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

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The variants below are all in the HBG2 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 HBG2, 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 HBG2 full legend here.

85 public entries
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Path.

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

HbVar link

Disease

Reference

Template

Technique

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# Reported

Ethnic origin

Disease Mesh ID

Geographic origin


+?/?	1	HBG2:c.-163A>C	-	-	-	-	HBG2_00617	HbVar	HPFH	dbSNP;Indrak K et al.;	DNA	SEQ	-110 (A->C) Ggamma; the Czech nd-HPFH	1	-	D013789	-
+?/?	1	HBG2:c.-167C>A	-	-	-	-	HBG2_00620	HbVar	HPFH	(OMIM 0046);dbSNP;Zertal-Zidani S et al.;	DNA	SEQ	-114(C->A)Ggamma; the Algerian nd-HPFH	1	-	D013789	-
+?/?	1	HBG2:c.-167C>G	-	-	-	-	HBG2_00615	HbVar	HPFH	dbSNP;Motum PI et al.;	DNA	SEQ	-114 (C->G) Ggamma; the Australian nd-HPFH	1	-	D013789	-
+?/?	1	HBG2:c.-167C>T	-	-	-	-	HBG2_00616	HbVar	HPFH	(OMIM 0035);dbSNP;Fucharoen S et al.;	DNA	SEQ	-114 (C->T) Ggamma; the Japanese nd-HPFH	1	-	D013789	-
+?/?	1	HBG2:c.-211C>T	-	-	-	-	HBG2_02171	-	Thalassemia	Gilman JG et al.;Serge Pissard et al.;Labie D et al.;	Protein	Amino	Ggamma -158C>T	1	-	-	-
+?/?	1	HBG2:c.-228T>C	-	-	-	-	HBG2_00614	HbVar	HPFH	(OMIM 0027);dbSNP;Friedman S et al.;	DNA	SEQ	-175 (T->C) Ggamma; nd-HPFH	1	-	D013789	-
+?/?	1	HBG2:c.-250C>T	-	-	-	-	HBG2_01650	HbVar	HPFH	dbSNP;Barnaby C (E-6612-2010);	Protein	Amino	G Gamma -197 C>T	1	-	D013789	-
+?/?	1	HBG2:c.-255C>G	-	-	-	-	HBG2_00613	HbVar	HPFH	(OMIM 0026);dbSNP;Huisman TH et al.;Collins FS et al.;	DNA	SEQ	-202 (C->G) Ggamma; nd-HPFH	1	-	D013789	-
+?/?	1	HBG2:c.17A>G	-	p.Glu6Gly	-	-	HBG2_00569	HbVar	Hb variants	(OMIM 0016);dbSNP;SwissVar VAR_003126;Ohta Y et al.;	Protein	Amino	Hb F-Meinohama	1	-	C033429	-
+?/?	1	HBG2:c.19G>A	-	p.Glu7Lys	-	-	HBG2_00607	HbVar	Hb variants	dbSNP;dbSNP;Larkin IL et al.;	Protein	Amino	Hb F-Texas-II	1	-	C055794	-
+?/?	1	HBG2:c.22G>A	-	p.Asp8Asn	-	-	HBG2_00570	HbVar	Hb variants	(OMIM 0002);dbSNP;SwissVar VAR_003129;Chen SS et al.;Carrell RW et al.;	Protein	Amino	Hb F-Auckland	1	-	C047885	-
+?/?	1	HBG2:c.38C>A	-	p.Thr13Lys	-	-	HBG2_00608	HbVar	Hb variants	dbSNP;dbSNP;Loukopoulos D et al.;Vella F et al.;	Protein	Amino	Hb F-Alexandra	1	-	D006455	-
+?/?	1	HBG2:c.38C>G	-	p.Thr13Arg	-	-	HBG2_00572	HbVar	Hb variants	(OMIM 0008);dbSNP;SwissVar VAR_020645;Bradley TB; HbVar A-2391-2010;	Protein	Amino	Hb F-Heather	1	-	D006455	-
+?/?	1	HBG2:c.42C>A	-	p.Ser14Arg	-	-	HBG2_02168	-	Hb variants	James D. Hoyer (F-7016-2010)	DNA	SEQ	Hb F-Millennium Park	1	-	-	-
+?/?	1	HBG2:c.46T>C	-	p.Trp16Arg	-	-	HBG2_00573	HbVar	Hb variants	(OMIM 0036);dbSNP;SwissVar VAR_003131;Plaseska D et al.;	Protein	Amino	Hb F-Catalonia	1	-	C067965	-
+?/?	1	HBG2:c.49G>C	-	p.Gly17Arg	-	-	HBG2_00574	HbVar	Hb variants	(OMIM 0017);dbSNP;SwissVar VAR_003132;Brennan SO et al.;	Protein	Amino	Hb F-Melbourne	1	-	D006455	-
+?/?	1	HBG2:c.4G>A	-	p.Gly2Ser	-	-	HBG2_01771	HbVar	Hb variants	FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010;	Protein	Amino	Hb F-Montchat	1	-	D006455	-
+?/?	1	HBG2:c.4G>T	-	p.Gly2Cys	-	-	HBG2_00568	HbVar	Hb variants	(OMIM 0013);dbSNP;SwissVar VAR_003123;Eng LI et al.;	Protein	Amino	Hb F-Malaysia	1	-	D006455	-
+?/?	1	HBG2:c.5G>A	-	p.Gly2Asp	-	-	HBG2_01988	-	Hb variants	Cui J et al.;	Protein	Amino	Hb F-Hayward	1	-	-	-
+?/?	1	HBG2:c.5G>A	-	p.Gly2Asp	-	-	HBG2_02162	-	Hb variants	Cui J et al.;	Protein	Amino	Hb F-Hayward	1	-	-	-
+?/?	1	HBG2:c.62T>C	-	p.Val21Ala	-	-	HBG2_00621	HbVar	Hb variants	dbSNP;Lacan P et al.;	Protein	Amino	Hb F-Bron	1	-	C508164	-
+?/?	1	HBG2:c.64G>A	-	p.Glu22Lys	-	-	HBG2_00576	HbVar	Hb variants	dbSNP;SwissVar VAR_003133;Pobedimskaya DD et al.;	Protein	Amino	Hb F-Saskatoon	1	-	C086554	-
+?/?	1	HBG2:c.64G>C	-	p.Glu22Gln	-	-	HBG2_00575	HbVar	Hb variants	(OMIM 0007);dbSNP;SwissVar VAR_003134;Wada Y et al.;	Protein	Amino	Hb F-Fuchu	1	-	D006455	-
+?/?	1	HBG2:c.68A>G	-	p.Asp23Gly	-	-	HBG2_00577	HbVar	Hb variants	(OMIM 0024);dbSNP;SwissVar VAR_020648;Hu HY et al.;	Protein	Amino	Hb F-Urumqi	1	-	C048605	-
+?/?	1	HBG2:c.68A>T	-	p.Asp23Val	-	-	HBG2_00578	HbVar	Hb variants	(OMIM 0029);dbSNP;SwissVar VAR_003136;de Pablos JM et al.;	Protein	Amino	Hb F-Granada	1	-	C055565	-
+?/?	1	HBG2:c.74G>A	-	p.Gly25Glu	-	-	HBG2_02167	-	Hb variants	James D. Hoyer (F-7016-2010)Semkiu KM et al.;	Protein	Amino	Hb F-Wentzville	1	-	-	-
+?/?	1	HBG2:c.77G>A	-	p.Gly26Glu	-	-	HBG2_00579	HbVar	Hb variants	(OMIM 0037);dbSNP;SwissVar VAR_003137;Qualtieri A et al.;	Protein	Amino	Hb F-Cosenza	1	-	C074594	-
+?/?	1	HBG2:c.79G>A	-	p.Glu27Lys	-	-	HBG2_00580	HbVar	Hb variants	(OMIM 0019);dbSNP;SwissVar VAR_003139;Kleman K et al.;	Protein	Amino	Hb F-Oakland	1	-	C053465	-
+?/?	1	HBG2:c.85C>A	-	p.Leu29Met	-	-	HBG2_02000	-	Hb variants	Bento C et al.;	Protein	Amino	Hb F-Viseu	1	-	-	-
+?/?	1	HBG2:c.85C>A	-	p.Leu29Met	-	-	HBG2_02164	-	Hb variants	Carreira R et al.;Bento C et al.;	Protein	Amino	Hb F-M Viseu	1	-	-	-
+?/?	1	HBG2:c.[25A>C or 25A>G]	-	p.Lys9Glu	-	-	HBG2_00571	HbVar	Hb variants	(OMIM 0001);dbSNP;dbSNP;SwissVar VAR_020643;SwissVar VAR_020644;de Pablos JM et al.;	Protein	Amino	Hb F-Albaicin	1	-	C052164	-
+?/?	1	HBG2:c.[54G>C or 54G>T]	-	p.Lys18Asn	-	-	HBG2_00611	HbVar	Hb variants	(OMIM 0048);dbSNP;dbSNP;SwissVar VAR_020646;Wajcman H et al.;	Protein	Amino	Hb F-Clamart	1	-	C406706	-
+?/?	1	HBG2:c.[60T>A or 60T>G]	-	p.Asn20Lys	-	-	HBG2_00610	HbVar	Hb variants	(OMIM 0049);dbSNP;dbSNP;SwissVar VAR_020647;Wajcman H et al.;	Protein	Amino	Hb F-Ouled Rabah	1	-	C406705	-
+?/?	2	HBG2:c.103G>A	-	p.Val35Ile	-	-	HBG2_00581	HbVar	Hb variants	(OMIM 0023);dbSNP;SwissVar VAR_003140;Chen S et al.;	Protein	Amino	Hb F-Tokyo	1	-	C045641	-
+?/?	2	HBG2:c.112T>G	-	p.Trp38Gly	-	-	HBG2_01833	HbVar	Hb variants	Dr. Philippe JOLY (E-4142-2010);	Protein	Amino	Hb F-Cobb II	1	-	D006455	-
+?/?	2	HBG2:c.115A>C	-	p.Thr39Pro	-	-	HBG2_00619	HbVar	Hb variants	dbSNP;Van den Driessche M et al.;	DNA	SEQ	Hb F-Bonheiden	1	-	D006455	-
+?/?	2	HBG2:c.121A>G	-	p.Arg41Gly	-	-	HBG2_00583	HbVar	Hb variants	(OMIM 0044);dbSNP;SwissVar VAR_003144;de Pablos Gallego JM et al.;	Protein	Amino	Hb F-Veleta	1	-	C098896	-
+?/?	2	HBG2:c.122G>A	-	p.Arg41Lys	-	-	HBG2_00582	HbVar	Hb variants	(OMIM 0030);dbSNP;SwissVar VAR_020649;Kutlar A et al.;	Protein	Amino	Hb F-Austell	1	-	C057247	-
+?/?	2	HBG2:c.124T>C	-	p.Phe42Leu	-	-	HBG2_01832	HbVar	Hb variants	B. MASALA (A-2272-2011);	Protein	Amino	Hb F-Avellino	1	-	D006455	-
+?/?	2	HBG2:c.125T>C	-	p.Phe42Ser	-	-	HBG2_00584	HbVar	Hb variants	(OMIM 0041);dbSNP;SwissVar VAR_003146;Kohli-Kumar M et al.;	Protein	Amino	Hb F-Cincinnati	1	-	C093359	-
+?/?	2	HBG2:c.133A>C	-	p.Ser45Arg	-	-	HBG2_00585	HbVar	Hb variants	(OMIM 0012);dbSNP;SwissVar VAR_003148;Cepreganova B et al.;Honig GR et al.;	Protein	Amino	Hb F-Lodz	1	-	C036348	-
+?/?	2	HBG2:c.167T>G	-	p.Met56Arg	-	-	HBG2_00586	HbVar	Hb variants	(OMIM 0010);dbSNP;SwissVar VAR_003150;de Pablos JM et al.;Serjeant GR et al.;	Protein	Amino	Hb F-Kingston	1	-	C037090	-
+?/?	2	HBG2:c.178A>C	-	p.Lys60Gln	-	-	HBG2_00587	HbVar	Hb variants	(OMIM 0038);dbSNP;SwissVar VAR_003152;Abbes S et al.;Pobedimskaya DD et al.;	Protein	Amino	Hb F-Sacromonte	1	-	C082238	-
+?/?	2	HBG2:c.178A>G	-	p.Lys60Glu	-	-	HBG2_00588	HbVar	Hb variants	(OMIM 0042);dbSNP;SwissVar VAR_003151;Abbes S et al.;	Protein	Amino	Hb F-Emirates	1	-	C095958	-
+?/?	2	HBG2:c.179A>G	-	p.Lys60Arg	-	-	HBG2_01989	-	Hb variants	Kutlar F et al.;	Protein	Amino	Hb F-Augusta GA	1	-	-	-
+?/?	2	HBG2:c.179A>G	-	p.Lys60Arg	-	-	HBG2_02163	-	Hb variants	Kutlar F et al.;	Protein	Amino	Hb F-Augusta GA	1	-	-	-
+?/?	2	HBG2:c.190C>T	-	p.His64Tyr	-	-	HBG2_00589	HbVar	Hb variants	(OMIM 0025);dbSNP;SwissVar VAR_003154;Prehu C et al.;Urabe D et al.;Glader BE et al.;	Protein	Amino	Hb F-M-Osaka	1	-	C063958	-
+?/?	2	HBG2:c.191A>T	-	p.His64Leu	-	-	HBG2_02012	-	Hb variants	Dainer E et al.;	Protein	Amino	Hb F-Circleville	1	-	-	-
+?/?	2	HBG2:c.191A>T	-	p.His64Leu	-	-	HBG2_02165	-	Hb variants	Dainer E et al.;	Protein	Amino	Hb F-Circleville	1	-	-	-
+?/?	2	HBG2:c.194G>A	-	p.Gly65Asp	-	-	HBG2_01824	HbVar	Hb variants	Pirastru; HbVar A-2391-2010;	DNA	SEQ	Hb F-Turritana	1	-	D006455	-
+?/?	2	HBG2:c.199A>C	-	p.Lys67Gln	-	-	HBG2_00592	HbVar	Hb variants	(OMIM 0031);dbSNP;SwissVar VAR_003157;Plaseska D et al.;	Protein	Amino	Hb F-Brooklyn	1	-	C066870	-
+?/?	2	HBG2:c.200A>G	-	p.Lys67Arg	-	-	HBG2_00591	HbVar	Hb variants	(OMIM 0022);dbSNP;SwissVar VAR_003156;Zeng YT et al.;	Protein	Amino	Hb F-Shanghai	1	-	C044375	-
+?/?	2	HBG2:c.202G>A	-	p.Val68Met	-	-	HBG2_01845	HbVar	Hb variants	Saller, E.; Speer, O.; Zurbriggen, K.; HbVar A-2391-2010;Crowley MA et al.;	Protein	Amino	Hb F-Heuried	1	-	D006455	-
+?/?	2	HBG2:c.217G>C	-	p.Gly73Arg	-	-	HBG2_00593	HbVar	Hb variants	(OMIM 0018);dbSNP;SwissVar VAR_020650;Wada Y et al.;	Protein	Amino	Hb F-Minoo	1	-	D006455	-
+?/?	2	HBG2:c.226A>G	-	p.Ile76Val	-	-	HBG2_00618	HbVar	Hb variants	dbSNP;Wajcman H (D-2111-2010);Wajcman H et al.;	Protein	Amino	Hb F-Coigneres	1	-	C473012	-
+?/?	2	HBG2:c.227T>C	-	p.Ile76Thr	-	-	HBG2_00594	HbVar	Hb variants	(OMIM 0039);dbSNP;SwissVar VAR_020651;Ferranti P et al.;Papadakis MN et al.;	Protein	Amino	Hb F-Lesvos	1	-	C097990	-
+?/?	2	HBG2:c.233A>G	-	p.His78Arg	-	-	HBG2_00595	HbVar	Hb variants	(OMIM 0009);dbSNP;SwissVar VAR_003162;Nakatsuji T et al.;	Protein	Amino	Hb F-Kennestone	1	-	C038624	-
+?/?	2	HBG2:c.238G>C	-	p.Asp80His	-	-	HBG2_00623	HbVar	Hb variants	dbSNP;Francina A (E-3974-2010);	DNA	SEQ	Hb F-Saint-Etienne	1	-	D006455	-
+?/?	2	HBG2:c.239A>G	-	p.Asp80Gly	-	-	HBG2_02169	-	Hb variants	James D. Hoyer (F-7016-2010)	DNA	SEQ	Hb F-Northerly Island	1	-	-	-
+?/?	2	HBG2:c.241G>A	-	p.Asp81Asn	-	-	HBG2_00596	HbVar	Hb variants	(OMIM 0015);dbSNP;SwissVar VAR_020652;Nakatsuji T et al.;	Protein	Amino	Hb F-Marietta	1	-	C029517	-
+?/?	2	HBG2:c.241G>T	-	p.Asp81Tyr	-	-	HBG2_01713	HbVar	Hb variants	dbSNP;Mereu P et al.;	Protein	Amino	Hb F-Paulinia	1	-	D006455	-
+?/?	2	HBG2:c.269G>A	-	p.Ser90Asn	-	-	HBG2_02036	-	Hb variants	Maffei et al; HbVar A-2391-2010;	DNA	SEQ	Hb F-Careggi	1	-	-	-
+?/?	2	HBG2:c.269G>A	-	p.Ser90Asn	-	-	HBG2_02166	-	Hb variants	Maffei et al; HbVar A-2391-2010;	DNA	SEQ	Hb F-Careggi	1	-	-	-
+?/?	2	HBG2:c.277C>T	-	p.His93Tyr	-	-	HBG2_00597	HbVar	Hb variants	(OMIM 0034);dbSNP;SwissVar VAR_003166;Molchanova TP et al.;Glader BE et al.;Priest JR et al.;	Protein	Amino	Hb F-M-Fort Ripley	1	-	C059479	-
+?/?	2	HBG2:c.280T>C	-	p.Cys94Arg	-	-	HBG2_01726	HbVar	Hb variants	dbSNP;Masala B (A-2272-2011);Pellegrini M et al.;	Protein	Amino	Hb F-Monserrato-Sassari	1	-	D006455	-
+?/?	2	HBG2:c.283G>A	-	p.Asp95Asn	-	-	HBG2_00598	HbVar	Hb variants	(OMIM 0006);dbSNP;SwissVar VAR_003167;Nakatsuji T et al.;	Protein	Amino	Hb F-Columbus-GA	1	-	C036999	-
+?/?	2	HBG2:c.293A>G	-	p.His98Arg	-	-	HBG2_00622	HbVar	Hb variants	dbSNP;Francina A (E-3974-2010);	DNA	SEQ	Hb F-Lyon	1	-	D006455	-
+?/?	2	HBG2:c.304G>A	-	p.Glu102Lys	-	-	HBG2_00599	HbVar	Hb variants	(OMIM 0011);dbSNP;SwissVar VAR_003169;Nakatsuji T et al.;	Protein	Amino	Hb F-La Grange	1	-	C042751	-
+?/?	2	HBG2:c.304G>C	-	p.Glu102Gln	-	-	HBG2_01588	HbVar	Hb variants	dbSNP;	Protein	Amino	Hb F-Zheijang	1	-	D006455	-
+?/?	2	HBG2:c.308A>C	-	p.Asn103Thr	-	-	HBG2_00624	HbVar	Hb variants	dbSNP;Capalo R; Dutly F; Frischknecht H; Ruhs K; Saller E; Zimmermann U; HbVar A-2391-2010;	DNA	SEQ	Hb F-Sarajevo	1	-	D006455	-
+?/?	2	HBG2:c.315G>C	-	p.Lys105Asn	-	-	HBG2_00600	HbVar	Hb variants	(OMIM 0040);dbSNP;SwissVar VAR_003170;Plaseska D et al.;	Protein	Amino	Hb F-Macedonia-II	1	-	C093037	-
+?/?	2	HBG2:c.[198G>T or 198G>C]	-	p.Lys66Asn	-	-	HBG2_00590	HbVar	Hb variants	(OMIM 0005);dbSNP;dbSNP;SwissVar VAR_003155;Kutlar A et al.;	Protein	Amino	Hb F-Clarke	1	-	C053466	-
+?/?	3	HBG2:c.317T>A	-	p.Leu106His	-	-	HBG2_01785	HbVar	Hb variants	Dr. U. Zimmermann ; Dr. H. Frischknecht ; Dr. R. Capalo; Dr. Elisabeth Saller; Dr. F. Dutly; Dr. G. Reinholz ; Dr. Joaquin Bintrup (G-1990-2010);Dr. Elisabeth Kohne; HbVar A-2391-2010;	Protein	Amino	Hb F-Feldkirch	1	-	D006455	-
+?/?	3	HBG2:c.327T>A	-	p.Asn109Lys	-	-	HBG2_00609	HbVar	Hb variants	dbSNP;dbSNP;	Protein	Amino	Hb F-Ube	1	-	D006455	-
+?/?	3	HBG2:c.353A>G	-	p.His118Arg	-	-	HBG2_00601	HbVar	Hb variants	(OMIM 0014);dbSNP;SwissVar VAR_003171;Altay G et al.;Cauchi MN et al.;Kutlar F et al.;	Protein	Amino	Hb F-Malta-I	1	-	C068751	-
+?/?	3	HBG2:c.355T>C	-	p.Phe119Leu	-	-	HBG2_00612	HbVar	Hb variants	(OMIM 0047);dbSNP;SwissVar VAR_015740;Manca L et al.;	DNA	SEQ	Hb F-Calabria	1	-	C406704	-
+?/?	3	HBG2:c.358G>C	-	p.Gly120Arg	-	-	HBG2_02170	-	Hb variants	James D. Hoyer (F-7016-2010)	DNA	SEQ	Hb F-Pill Hill	1	-	-	-
+?/?	3	HBG2:c.361A>C	-	p.Lys121Gln	-	-	HBG2_00602	HbVar	Hb variants	(OMIM 0003);dbSNP;SwissVar VAR_003172;Shelton JB et al.;	Protein	Amino	Hb F-Caltech	1	-	C036997	-
+?/?	3	HBG2:c.364G>A	-	p.Glu122Lys	-	-	HBG2_00603	HbVar	Hb variants	(OMIM 0004);dbSNP;SwissVar VAR_020653;Brennan SO et al.;	Protein	Amino	Hb F-Carlton	1	-	D006455	-
+?/?	3	HBG2:c.377A>C	-	p.Glu126Ala	-	-	HBG2_00604	HbVar	Hb variants	(OMIM 0021);dbSNP;SwissVar VAR_003174;Huisman THJ; HbVar A-2391-2010;Brimhall B et al.;	Protein	Amino	Hb F-Port Royal	1	-	D006455	-
+?/?	3	HBG2:c.391T>G	-	p.Trp131Gly	-	-	HBG2_00605	HbVar	Hb variants	(OMIM 0020);dbSNP;SwissVar VAR_003176;Lee-Potter JP et al.;	Protein	Amino	Hb F-Poole	1	-	D006455	-
+?/?	3	HBG2:c.410G>A	-	p.Gly137Glu	-	-	HBG2_01772	HbVar	Hb variants	FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010;	Protein	Amino	Hb F-Privas	1	-	D006455	-
+?/?	3	HBG2:c.422C>A	-	p.Ala141Asp	-	-	HBG2_02172	-	Hb variants	James D. Hoyer (F-7016-2010)	DNA	SEQ	Hb F-Wyandotte	1	-	-	-
+?/?	3	HBG2:c.439C>T	-	p.His147Tyr	-	-	HBG2_00606	HbVar	Hb variants	(OMIM 0032);dbSNP;SwissVar VAR_003179;Harano T et al.;	Protein	Amino	Hb F-Onoda	1	-	C066871	-
+?/?	3	HBG2:c.440A>G	-	p.His147Arg	-	-	HBG2_01725	HbVar	Hb variants	dbSNP;Brintrup J (G-1990-2010);Joly P; HbVar A-2391-2010;	Protein	Amino	Hb F-Istambul	1	-	D006455	-

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Legend: [ HBG2 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. HBG2 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

The Globin Gene Server

G-gamma globin (HBG2)