LOVD - Variant listings for HBA2

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+?/? 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>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>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.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.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.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>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.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.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.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.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 -
+?/? 1 HBA2:c.84G>C - p.Glu28Asp - - HBA2_00301 HbVar Hb variants (OMIM 0051);dbSNP;SwissVar VAR_002748;Ngiwsara L et al.;Zhao W et al.;Merault G et al.;Harano T et al.; Protein Amino Hb Hekinan 1 - C056356 -
+?/? 1 HBA2:c.89T>C - p.Leu30Pro - - HBA2_00302 HbVar alpha-2 thal dbSNP;de la Fuente-Gonzalo F et al.;Traeger-Synodinos J et al.;Traeger-Synodinos J et al.;Papadakis M et al.; DNA SEQ Hb Agrinio 1 - C097403 -
+?/? 1 HBA2:c.8T>C - p.Leu3Pro - - HBA2_01648 HbVar Hb variants dbSNP;Gallivan M (A-9986-2010); Protein Amino Hb Kaiser West End 1 - D006455 -
+?/? 1 HBA2:c.8T>G - p.Leu3Arg - - HBA2_00261 HbVar Hb variants (OMIM 0021);dbSNP;dbSNP;SwissVar VAR_002720;Zeng YT et al.; Protein Amino Hb Chongqing 1 - C044392 -
+?/? 1 HBA2:c.91G>A - p.Glu31Lys - - HBA2_00303 HbVar Hb variants (OMIM 0111);dbSNP;dbSNP;SwissVar VAR_002751;Barbui T et al.;Martin G et al.;Schnedl WJ et al.; Protein Amino Hb O-Padova 1 - C038278 -
+?/? 1 HBA2:c.91G>C - p.Glu31Gln - - HBA2_00304 HbVar Hb variants dbSNP;dbSNP;Paleari R et al.;Blackwell RQ et al.;Liu GY et al.;Chang JG et al.; Protein Amino Hb G-Honolulu 1 - C043216 -
+?/? 1 HBA2:c.91_93delGAG - - - - HBA2_01708 HbVar alpha-2 thal dbSNP;Gallivan (A-9986-2010); Protein Amino Alpha2 Codon 30 del GAG 1 - D013789 -
+?/? 1 HBA2:c.94A>G - p.Arg32Gly - - HBA2_01874 HbVar alpha-2 thal De La Fuente-Gonzalo F. (A-7342-2015) Protein Amino Hb Maranon 1 - - -
+?/? 1 HBA2:c.94A>T - p.Arg32Trp - - HBA2_01980 - Hb variants Lin L et al.; Protein Amino Hb Debao 1 - - -
+?/? 1 HBA2:c.94_95delAG - - - - HBA2_01790 HbVar alpha-1 thal Zhao P et al.; Protein Amino Alpha-3.7KbAllele:c.94_95delAG 1 - D013789 -
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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