View all contents - The Globin Gene Server - Leiden Open Variation Database

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The variants below are all in the HBA2 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than HBA2, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the HBA2 full legend here.

476 public entries
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Path.

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

HbVar link

Disease

Reference

Template

Technique

Remarks

# Reported

Ethnic origin

Disease Mesh ID

Geographic origin


+?/?	1	HBA2:c.-24C>G	-	-	-	-	HBA2_01842	HbVar	rare variant	COUQUE N.; JOLY P. (E-4142-2010);PISSARD S.; HbVar A-2391-2010;	Protein	Amino	HBA2:c.-24A>G	1	-	-	-
+?/?	1	HBA2:c.-59C>T	-	-	-	-	HBA2_01898	HbVar	alpha-2 thal	Qadah T et al.;	Protein	Amino	HBA2:c.-59C>T	1	-	D013789	-
+?/?	1	HBA2:c.-81C>A	-	-	-	-	HBA2_01900	HbVar	rare variant	Qadah T et al.;	Protein	Amino	HBA2:c.-81C>A	1	-	-	-
+?/?	1	HBA2:c.-91G>A	-	-	-	-	HBA2_01906	HbVar	alpha-2 thal	Qadah T et al.;	Protein	Amino	HBA2:c.-91G>A	1	-	D013789	-
+?/?	1	HBA2:c.10T>C	-	p.Ser4Pro	-	-	HBA2_01577	HbVar	Hb variants	dbSNP;dbSNP;Green B; Henthorn J; Mantio D; HbVar A-2391-2010;	Protein	Amino	Hb Central Middlesex	1	-	D006455	-
+?/?	1	HBA2:c.11C>A	-	p.Ser4Tyr	-	-	HBA2_01998	-	Hb variants	Kutlar F et al.;	Protein	Amino	Hb Tallahassee	1	-	-	-
+?/?	1	HBA2:c.11C>A	-	p.Ser4Tyr	-	-	HBA2_02131	-	Hb variants	Kutlar F et al.;	Protein	Amino	Hb Tallahassee	1	-	-	-
+?/?	1	HBA2:c.11C>G	-	p.Ser4Cys	-	-	HBA2_01704	HbVar	Hb variants	dbSNP;Hoyer JD (F-7016-2010);	DNA	SEQ	Hb Teterboro	1	-	D006455	-
+?/?	1	HBA2:c.14C>A	-	p.Pro5His	-	-	HBA2_00543	HbVar	Hb variants	dbSNP;Hoyer JD (F-7016-2010);	Protein	Amino	Hb Bellevue	1	-	D006455	-
+?/?	1	HBA2:c.14C>G	-	p.Pro5Arg	-	-	HBA2_01583	HbVar	Hb variants	dbSNP;Francina A (E-3974-2010);Joly P (E-4142-2010);	DNA	SEQ	Hb Gorée	1	-	D006455	-
+?/?	1	HBA2:c.16G>C	-	p.Ala6Pro	-	-	HBA2_00263	HbVar	Hb variants	(OMIM 0080);dbSNP;dbSNP;SwissVar VAR_002722;Ahmad A et al.;	Protein	Amino	Hb Karachi	1	-	C050799	-
+?/?	1	HBA2:c.17C>A	-	p.Ala6Asp	-	-	HBA2_00262	HbVar	Hb variants	(OMIM 0078);dbSNP;dbSNP;SwissVar VAR_002721;VAN LAER C.; HbVar A-2391-2010;Vella F et al.;Crookston JH et al.;	Protein	Amino	Hb J-Toronto	1	-	D006455	-
+?/?	1	HBA2:c.19G>A	-	p.Asp7Asn	-	-	HBA2_00265	HbVar	Hb variants	(OMIM 0029);dbSNP;dbSNP;SwissVar VAR_002725;Baklouti F et al.;Nakatsuji T et al.;Charache S et al.;	Protein	Amino	Hb Dunn	1	-	C040493	-
+?/?	1	HBA2:c.19G>C	-	p.Asp7His	-	-	HBA2_00551	HbVar	Hb variants	dbSNP;Dagna-Bricarelli F; Forni G; Ivaldi G; Leone D; Parastatidou S; Viaggi C; HbVar A-2391-2010;	DNA	SEQ	Hb Galliera II	1	-	D006455	-
+?/?	1	HBA2:c.19G>T	-	p.Asp7Tyr	-	-	HBA2_00267	HbVar	Hb variants	(OMIM 0158);dbSNP;dbSNP;SwissVar VAR_002727;Como PF et al.;	Protein	Amino	Hb Woodville	1	-	C048298	-
+?/?	1	HBA2:c.19_21delGAC	-	-	-	-	HBA2_00469	HbVar	Hb variants	(OMIM 0018);dbSNP;dbSNP;Zhao W et al.;Johnson CS et al.;	Protein	Amino	Hb Boyle Heights	1	-	C040844	-
+?/?	1	HBA2:c.1A>G	-	-	-	-	HBA2_00492	HbVar	alpha-1 thal	dbSNP;Olivieri NF et al.;	DNA	SEQ	Initiation codon (A->G); of an alpha2alpha1 hybrid gene -alpha(-3.7 kb) alpha-Thal-1	1	-	D013789	-
+?/?	1	HBA2:c.1A>G	-	p.Met1Val	-	-	HBA2_00514	HbVar	alpha-2 thal	(OMIM 0022);Olivieri NF et al.;	Protein	Amino	alpha2 ATG->GTG	1	-	D013789	-
+?/?	1	HBA2:c.20A>C	-	p.Asp7Ala	-	-	HBA2_00264	HbVar	Hb variants	(OMIM 0128);dbSNP;dbSNP;SwissVar VAR_002723;Sasaki J et al.;Sumida I et al.;Sumida I et al.;	Protein	Amino	Hb Sawara	1	-	D006455	-
+?/?	1	HBA2:c.20A>G	-	p.Asp7Gly	-	-	HBA2_00268	HbVar	Hb variants	(OMIM 0145);dbSNP;dbSNP;SwissVar VAR_002724;Harano T et al.;Moo-Penn WF et al.;Como PF et al.;	Protein	Amino	Hb Swan River	1	-	C052834	-
+?/?	1	HBA2:c.20A>T	-	p.Asp7Val	-	-	HBA2_00266	HbVar	Hb variants	(OMIM 0032);dbSNP;dbSNP;SwissVar VAR_002726;Lee-Potter JP et al.;	Protein	Amino	Hb Ferndown	1	-	C030557	-
+?/?	1	HBA2:c.22A>C	-	p.Lys8Gln	-	-	HBA2_01710	HbVar	Hb variants	dbSNP;Hoyer JD (F-7016-2010);	DNA	SEQ	Hb J-Brainerd	1	-	D006455	-
+?/?	1	HBA2:c.22A>G	-	p.Lys8Glu	-	-	HBA2_00270	HbVar	Hb variants	(OMIM 0068);dbSNP;dbSNP;SwissVar VAR_002728;Wenning MR et al.;Harano T et al.;	Protein	Amino	Hb Kurosaki	1	-	C095951	-
+?/?	1	HBA2:c.22A>T	-	p.Lys8Stop	-	-	HBA2_01819	HbVar	alpha-2 thal	BAYAT Nooshin (D-7936-2012);Bayat N et al.;	Protein	Amino	Codon 7 Lys>Stop (Alpha 2)	1	-	D013789	-
+?/?	1	HBA2:c.23A>C	-	p.Lys8Thr	-	-	HBA2_01711	HbVar	Hb variants	dbSNP;Hoyer JD (F-7016-2010);	DNA	SEQ	Hb Nayarit	1	-	D006455	-
+?/?	1	HBA2:c.23A>G	-	p.Lys8Arg	-	-	HBA2_00561	HbVar	Hb variants	dbSNP;Gallivan M (A-9986-2010);	DNA	SEQ	Hb Guanajuato	1	-	D006455	-
+?/?	1	HBA2:c.24G>C	-	p.Lys8Asn	-	-	HBA2_00269	HbVar	Hb variants	(OMIM 0187);dbSNP;dbSNP;Wajcman H et al.;	Protein	Amino	Hb Tatras	1	-	C093038	-
+?/?	1	HBA2:c.27delC	-	-	-	-	HBA2_01765	HbVar	Thalassemia	-	Protein	Amino	Hb Codon 8 (-C); ACC (Thr)>AC- Alpha0	1	-	D013789	-
+?/?	1	HBA2:c.29A>C	-	p.Asn10Thr	-	-	HBA2_00527	HbVar	Hb variants	dbSNP;dbSNP;Wild B; HbVar A-2391-2010;	Protein	Amino	Hb Broomfield	1	-	D006455	-
+?/?	1	HBA2:c.29A>G	-	p.Asn10Ser	-	-	HBA2_00506	HbVar	Hb variants	dbSNP;Frishknecht H.; Troxler H.; HbVar A-2391-2010;Troxler H. et al.;	DNA	SEQ	Hb Zurich-Hottingen	1	-	C454108	-
+?/?	1	HBA2:c.2delT	-	-	-	-	HBA2_00494	HbVar	alpha-2 thal	(OMIM 0069);dbSNP;	DNA	SEQ	Initiation codon (-T); ATG->A-G of the alpha2 gene alpha-Thal-2	1	-	D013789	-
+?/?	1	HBA2:c.2T>C	-	p.Met1Thr	-	-	HBA2_00493	HbVar	alpha-2 thal	(OMIM 0020);dbSNP;Giordano P (A-9724-2010);Pirastu M et al.;	DNA	SEQ	Initiation codon (T->C); ATG->ACG of the alpha2 gene alpha-Thal-2	1	-	D013789	-
+?/?	1	HBA2:c.2T>G	-	p.Met1Arg	-	-	HBA2_01786	HbVar	alpha-2 thal	Dr. Nooshin BAYAT (D-7936-2012);Zandian K et al.;	Protein	Amino	alpha2 ATG>AGG	1	-	D013789	-
+?/?	1	HBA2:c.30C>A	-	p.Asn10Lys	-	-	HBA2_02042	-	Hb variants	Anping Xu (K-9299-2018)	Protein	Amino	Hb Zhaoqing	1	-	-	-
+?/?	1	HBA2:c.30C>A	-	p.Asn10Lys	-	-	HBA2_02143	-	Hb variants	Anping Xu (K-9299-2018)	Protein	Amino	Hb Zhaoqing	1	-	-	-
+?/?	1	HBA2:c.30C>G	-	p.Asn10Lys	-	-	HBA2_00482	HbVar	Hb variants	(OMIM 0048);dbSNP;Fairbanks VF; HbVar A-2391-2010;Hoyer JD et al.;	DNA	SEQ	Hb Park Ridge	1	-	D006455	-
+?/?	1	HBA2:c.34A>C	-	p.Lys12Gln	-	-	HBA2_00272	HbVar	Hb variants	(OMIM 0159);dbSNP;dbSNP;Wang WC et al.;Qualtieri A et al.;Zeng YT et al.;Svasti J et al.;	Protein	Amino	Hb J-Wenchang-Wuming	1	-	D006455	-
+?/?	1	HBA2:c.34A>G	-	p.Lys12Glu	-	-	HBA2_02154	-	Hb variants	Dr. Philippe JOLY (0000-0002-2351-9441)	Protein	Amino	Hb Arbresle	1	-	-	-
+?/?	1	HBA2:c.38C>A	-	p.Ala13Asp	-	-	HBA2_00274	HbVar	Hb variants	(OMIM 0070);dbSNP;dbSNP;SwissVar VAR_002730;Molchanova TP et al.;Dash S et al.;Niazi GA et al.;	Protein	Amino	Hb J-Paris-I	1	-	C049661	-
+?/?	1	HBA2:c.3G>T	-	p.Met1Ile	-	-	HBA2_02017	-	Hb variants	de la Fuente-Gonzalo F et al.;	Protein	Amino	Hb Valdecilla	1	-	-	-
+?/?	1	HBA2:c.3G>T	-	p.Met1Ile	-	-	HBA2_02139	-	Hb variants	De La Fuente-Gonzalo F et al.;	Protein	Amino	Hb Valdecilla	1	-	-	-
+?/?	1	HBA2:c.40G>C	-	p.Ala14Pro	-	-	HBA2_00528	HbVar	Hb variants	dbSNP;dbSNP;Wild B; HbVar A-2391-2010;	Protein	Amino	Hb Ravenscourt Park	1	-	D006455	-
+?/?	1	HBA2:c.40G>T	-	p.Ala14Ser	-	-	HBA2_02156	-	Hb variants	James D. Hoyer (F-7016-2010)Xiong F et al.;Shang X et al.;Scheps KG et al.;	DNA	SEQ	Hb Binyang	1	-	-	-
+?/?	1	HBA2:c.40_45delGCCTGG	-	-	-	-	HBA2_01847	HbVar	alpha-2 thal	KATTAMIS A.; TRAEGER-SYNODINOS J.; HbVar A-2391-2010;	Protein	Amino	Hb Souli	1	-	D013789	-
+?/?	1	HBA2:c.41C>A	-	p.Ala14Asp	-	-	HBA2_01901	HbVar	Hb variants	-	Protein	Amino	Hb Litle Waltham	1	-	D006455	-
+?/?	1	HBA2:c.44G>C	-	p.Trp15Ser	-	-	HBA2_02157	-	Hb variants	James D. Hoyer (F-7016-2010)	DNA	SEQ	Hb Jax	1	-	-	-
+?/?	1	HBA2:c.44G>T	-	p.Trp15Leu	-	-	HBA2_01641	HbVar	Hb variants	dbSNP;Barnaby C (E-6612-2010);	Protein	Amino	Hb Codon 14 (TGG>TTG)	1	-	D006455	-
+?/?	1	HBA2:c.45G>A	-	p.Trp15Stop	-	-	HBA2_01849	HbVar	alpha-2 thal	Desmond Rogers; Dr Barnaby Clark (G-6612-2010);Matthew Oakley (G-8434-2014);HbVar A-2391-2010;	Protein	Amino	Alpha-2 codon 14 G>A (Trp>Stop)	1	-	D013789	-
+?/?	1	HBA2:c.45G>C	-	p.Trp15Cys	-	-	HBA2_00552	HbVar	Hb variants	dbSNP;Gallivan M (A-9986-2010);	DNA	SEQ	Hb Bladensburg	1	-	D006455	-
+?/?	1	HBA2:c.46G>C	-	p.Gly16Arg	-	-	HBA2_00276	HbVar	Hb variants	(OMIM 0114);dbSNP;dbSNP;SwissVar VAR_002732;Turbpaiboon C et al.;Pootrakul S et al.;	Protein	Amino	Hb Ottawa	1	-	C406708	-
+?/?	1	HBA2:c.46G>T	-	p.Gly16Cys	-	-	HBA2_02158	-	Hb variants	Dr. MANDRILE Giorgia (AFZ-2487-2022)Dr. NICOLO Cinzia (AGG-7402-2022)Dr. CURCIO Cristina (D-3898-2011)	DNA	SEQ	Hb Orbassano	1	-	-	-
+?/?	1	HBA2:c.49A>G	-	p.Lys17Glu	-	-	HBA2_00277	HbVar	Hb variants	(OMIM 0055);dbSNP;Saito S et al.;Liebhaber SA et al.;Fleming PJ et al.;Esan GJ et al.;	Protein	Amino	Hb I	1	-	D006455	-
+?/?	1	HBA2:c.4delG	-	-	-	-	HBA2_02273	-	alpha-2 thal	Wei Li (0009-0007-4859-0387)	Protein	Amino	alpha 2 codon 1(-G)	1	-	-	-
+?/?	1	HBA2:c.4G>A	-	p.Val2Met	-	-	HBA2_00550	HbVar	Hb variants	dbSNP;	DNA	SEQ	Hb A2-Fontanabuona	1	-	D006455	-
+?/?	1	HBA2:c.4G>C	-	p.Val2Leu	-	-	HBA2_00559	HbVar	Hb variants	dbSNP;Harteveld CL et al.;	DNA	SEQ	Hb St.Jozef	1	-	D006455	-
+?/?	1	HBA2:c.50A>C	-	p.Lys17Thr	-	-	HBA2_00523	HbVar	Hb variants	dbSNP;Jorge SE et al.;	DNA	SEQ	Hb Boa Esperanca	1	-	D006455	-
+?/?	1	HBA2:c.50A>T	-	p.Lys17Met	-	-	HBA2_00279	HbVar	Hb variants	(OMIM 0050);dbSNP;dbSNP;SwissVar VAR_002733;Zeng YT et al.;	Protein	Amino	Hb Harbin	1	-	C044393	-
+?/?	1	HBA2:c.52G>T	-	p.Val18Phe	-	-	HBA2_01978	-	alpha-2 thal	Yang Y et al.;	Protein	Amino	Hb Dapu	1	-	-	-
+?/?	1	HBA2:c.52G>T	-	p.Val18Phe	-	-	HBA2_02130	-	alpha-2 thal	Yang Y et al.;	Protein	Amino	Hb Dapu	1	-	-	-
+?/?	1	HBA2:c.53T>A	-	p.Val18Asp	-	-	HBA2_01902	HbVar	Hb variants	-	Protein	Amino	Hb Oxford	1	-	D006455	-
+?/?	1	HBA2:c.55G>C	-	p.Gly19Arg	-	-	HBA2_00280	HbVar	Hb variants	(OMIM 0049);dbSNP;dbSNP;SwissVar VAR_002736;Al-Awamy BH et al.;Chih-chuan L et al.;Griffiths KD et al.;	Protein	Amino	Hb Handsworth	1	-	C029520	-
+?/?	1	HBA2:c.56delG	-	-	-	-	HBA2_00537	HbVar	alpha-2 thal	dbSNP;Harteveld CL et al.;	DNA	SEQ	Codon 19 (-G)	1	-	D013789	-
+?/?	1	HBA2:c.56G>A	-	p.Gly19Asp	-	-	HBA2_00281	HbVar	Hb variants	(OMIM 0175);dbSNP;dbSNP;SwissVar VAR_002735;Abbes S et al.;	Protein	Amino	Hb Al-Ain Abu Dhabi	1	-	C077660	-
+?/?	1	HBA2:c.59C>A	-	p.Ala20Glu	-	-	HBA2_00283	HbVar	Hb variants	(OMIM 0076);dbSNP;dbSNP;SwissVar VAR_002738;Li HJ et al.;	Protein	Amino	Hb J-Tashikuergan	1	-	C043009	-
+?/?	1	HBA2:c.5T>A	-	p.Val2Glu	-	-	HBA2_00468	HbVar	Hb variants	(OMIM 0168);dbSNP;dbSNP;SwissVar VAR_002719;	Protein	Amino	Hb Thionville	1	-	C075442	-
+?/?	1	HBA2:c.5T>C	-	p.Val2Ala	-	-	HBA2_00504	HbVar	Hb variants	dbSNP;Francina A (E-3974-2010);Lacan P et al.;	DNA	SEQ	Hb Lyon-Bron	1	-	C451961	-
+?/?	1	HBA2:c.5T>G	-	p.Val2Gly	-	-	HBA2_00260	HbVar	Hb variants	(OMIM 0038);dbSNP;dbSNP;Kister J et al.;	Protein	Amino	Hb Antananarivo	1	-	C119411	-
+?/?	1	HBA2:c.60delG	-	-	-	-	HBA2_01808	HbVar	alpha-2 thal	Elisabeth Saller (B-1147-2010);	DNA	SEQ	HBA2:c.60delG	1	-	D013789	-
+?/?	1	HBA2:c.61C>G	-	p.His21Asp	-	-	HBA2_00480	HbVar	Hb variants	(OMIM 0042);dbSNP;Prehu C et al.;	DNA	SEQ	Hb Nikaia	1	-	C423022	-
+?/?	1	HBA2:c.61C>T	-	p.His21Tyr	-	-	HBA2_00284	HbVar	Hb variants	(OMIM 0104);dbSNP;dbSNP;Wajcman H et al.;	Protein	Amino	Hb Necker Enfants-Malades	1	-	D006455	-
+?/?	1	HBA2:c.62A>C	-	p.His21Pro	-	-	HBA2_00479	HbVar	Hb variants	dbSNP;dbSNP;Cotton F. et al.;	Protein	Amino	Hb Anderlecht	1	-	D006455	-
+?/?	1	HBA2:c.62A>G	-	p.His21Arg	-	-	HBA2_00286	HbVar	Hb variants	(OMIM 0053);dbSNP;dbSNP;SwissVar VAR_002740;Fleming PJ et al.;	Protein	Amino	Hb Hobart	1	-	C053835	-
+?/?	1	HBA2:c.63C>A	-	p.His21Gln	-	-	HBA2_00285	HbVar	Hb variants	(OMIM 0088);dbSNP;SwissVar VAR_002739;Wiener K et al.;Reynolds TM et al.;Malcorra-Azpiazu JJ et al.;	Protein	Amino	Hb Le Lamentin	1	-	C035852	-
+?/?	1	HBA2:c.64G>C	-	p.Ala22Pro	-	-	HBA2_00288	HbVar	Hb variants	(OMIM 0033);dbSNP;dbSNP;SwissVar VAR_002742;Wajcman H et al.;	Protein	Amino	Hb Fontainebleau	1	-	C062066	-
+?/?	1	HBA2:c.64G>T	-	p.Ala22Ser	-	-	HBA2_00560	HbVar	Hb variants	dbSNP;Harteveld CL et al.;	DNA	SEQ	Hb Zoetermeer	1	-	C523160	-
+?/?	1	HBA2:c.65C>A	-	p.Ala22Asp	-	-	HBA2_00287	HbVar	Hb variants	(OMIM 0068);dbSNP;dbSNP;SwissVar VAR_002741;Kendall AG et al.;	Protein	Amino	Hb J-Nyanza	1	-	D006455	-
+?/?	1	HBA2:c.65C>T	-	p.Ala22Val	-	-	HBA2_01643	HbVar	Hb variants	dbSNP;Gallivan M (A-9986-2010);	Protein	Amino	Hb Venetia	1	-	D006455	-
+?/?	1	HBA2:c.66_67insT	-	-	-	-	HBA2_01634	HbVar	alpha-2 thal	dbSNP;Old J (E-5816-2010);	Protein	Amino	α2 Codon 21/22 (+T)	1	-	D013789	-
+?/?	1	HBA2:c.68G>A	-	p.Gly23Asp	-	-	HBA2_00289	HbVar	Hb variants	(OMIM 0067);dbSNP;dbSNP;SwissVar VAR_002743;	Protein	Amino	Hb J-Medellin	1	-	D006455	-
+?/?	1	HBA2:c.69C>T	-	p.Gly23Gly	-	-	HBA2_00536	HbVar	alpha-2 thal	dbSNP;Harteveld C et al. (E-4552-2010);	DNA	SEQ	Codon 22 C>T	1	-	D013789	-
+?/?	1	HBA2:c.69_77delCGAGTATGG	-	-	-	-	HBA2_01752	HbVar	Hb variants	Liao C et al.;	Protein	Amino	Hb Zhanjiang	1	-	D006455	-
+?/?	1	HBA2:c.70G>A	-	p.Glu24Lys	-	-	HBA2_00291	HbVar	Hb variants	(OMIM 0016);dbSNP;dbSNP;SwissVar VAR_002745;Codrington JF et al.;Blackwell RQ et al.;Boyer SH et al.;	Protein	Amino	Hb Chad	1	-	C040492	-
+?/?	1	HBA2:c.70G>C	-	p.Glu24Gln	-	-	HBA2_00290	HbVar	Hb variants	(OMIM 0096);dbSNP;dbSNP;Cooper MR et al.;Kraus LM et al.;	Protein	Amino	Hb Memphis	1	-	D006455	-
+?/?	1	HBA2:c.70G>T	-	p.Glu24Stop	-	-	HBA2_00540	HbVar	alpha-2 thal	dbSNP;Siala H et al.;	DNA	SEQ	Cd23 (GAG>TAG)	1	-	D013789	-
+?/?	1	HBA2:c.71A>C	-	p.Glu24Ala	-	-	HBA2_01692	HbVar	Hb variants	dbSNP;Hoyer JD (F-7016-2010);	DNA	SEQ	Hb Dayton	1	-	D006455	-
+?/?	1	HBA2:c.71A>G	-	p.Glu24Gly	-	-	HBA2_00293	HbVar	Hb variants	(OMIM 0124);dbSNP;dbSNP;SwissVar VAR_002744;Bardakdjian-Michau J et al.;	Protein	Amino	Hb Reims	1	-	C063954	-
+?/?	1	HBA2:c.71A>T	-	p.Glu24Val	-	-	HBA2_00292	HbVar	Hb variants	(OMIM 0035);dbSNP;dbSNP;Beale D et al.;Blaschko H et al.;Lehmann H et al.;Marengo-Rowe AJ et al.;	Protein	Amino	Hb G-Audhali	1	-	D006455	-
+?/?	1	HBA2:c.72G>T	-	p.Glu24Asp	-	-	HBA2_00294	HbVar	Hb variants	(OMIM 0188);dbSNP;dbSNP;Wajcman H et al.;	Protein	Amino	Hb Lisbon	1	-	C093039	-
+?/?	1	HBA2:c.73T>C	-	p.Tyr25His	-	-	HBA2_00295	HbVar	Hb variants	(OMIM 0091);dbSNP;dbSNP;SwissVar VAR_002746;Moo-Penn WF et al.;Groff P et al.;	Protein	Amino	Hb Luxembourg	1	-	C062067	-
+?/?	1	HBA2:c.73T>G	-	p.Tyr25Asp	-	-	HBA2_00535	HbVar	Hb variants	dbSNP;Gallivan MV (A-9986-2010);	DNA	SEQ	Hb Creve Coeur	1	-	D006455	-
+?/?	1	HBA2:c.75T>G	-	p.Tyr25Stop	-	-	HBA2_01646	HbVar	alpha-2 thal	dbSNP;Gallivan M V (A-9986-2010);	Protein	Amino	Codon 24 (T>G)	1	-	D013789	-
+?/?	1	HBA2:c.77G>A	-	p.Gly26Asp	-	-	HBA2_01979	-	alpha-2 thal	de la Fuente-Gonzalo F et al.;	Protein	Amino	Hb Cibeles	1	-	-	-
+?/?	1	HBA2:c.77G>A	-	p.Gly26Asp	-	-	HBA2_02134	-	alpha-2 thal	De La Fuente-Gonzalo F et al.;	Protein	Amino	Hb Cibeles	1	-	-	-
+?/?	1	HBA2:c.79G>A	-	p.Ala27Thr	-	-	HBA2_00297	HbVar	Hb variants	dbSNP;	Protein	Amino	Hb Caserta	1	-	D006455	-
+?/?	1	HBA2:c.80C>A	-	p.Ala27Glu	-	-	HBA2_00296	HbVar	Hb variants	(OMIM 0132);dbSNP;dbSNP;SwissVar VAR_002747;Yi CH et al.;Zeng YT et al.;	Protein	Amino	Hb Shenyang	1	-	C037201	-
+?/?	1	HBA2:c.80C>T	-	p.Ala27Val	-	-	HBA2_00475	HbVar	Hb variants	(OMIM 0041);dbSNP;SwissVar VAR_025387;Torsoni MA et al.;Wenning MRSC et al.;	DNA	SEQ	Hb Campinas	1	-	C415474	-
+?/?	1	HBA2:c.82G>A	-	p.Glu28Lys	-	-	HBA2_00300	HbVar	Hb variants	(OMIM 0134);dbSNP;dbSNP;Huang CH et al.;Chihchuan L et al.;Chihchuan L et al.;	Protein	Amino	Hb Shuangfeng	1	-	C033983	-
+?/?	1	HBA2:c.83A>C	-	p.Glu28Ala	-	-	HBA2_00529	HbVar	Hb variants	dbSNP;dbSNP;Wild BJ et al.;	Protein	Amino	Hb Hackney	1	-	D006455	-
+?/?	1	HBA2:c.83A>G	-	p.Glu28Gly	-	-	HBA2_00298	HbVar	Hb variants	(OMIM 0037);dbSNP;dbSNP;SwissVar VAR_002749;Carstairs KC et al.;Schneider RG et al.;	Protein	Amino	Hb Fort Worth	1	-	C046190	-
+?/?	1	HBA2:c.83A>T	-	p.Glu28Val	-	-	HBA2_00299	HbVar	Hb variants	(OMIM 0009);dbSNP;dbSNP;SwissVar VAR_002750;Cash FE et al.;Ruiz-Reyes G et al.;Faustino P et al.;	Protein	Amino	Hb Spanish Town	1	-	C476051	-

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Legend: [ HBA2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. HBA2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Ethnic origin: Ethnic origin of patient Disease Mesh ID: Mesh ID Geographic origin: Geographic origin of patient

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alpha-2 globin (HBA2)