Unique variants in the HBA2 gene

Information The variants shown are described using the NM_000517.4 transcript reference sequence.

438 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 1 2 c.153C>R Hb Frankfurt r.(?) p.(His51Gln) - VUS g.223181C>R g.173182C>R - - HBA2_000330 - data from Globin Gene Server (HbVar-73), Wajcman H (D-2111-2010), PubMed: Prehu C - rs281860627 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.171G>Y Hb Belliard r.(?) p.Lys57Asn - VUS g.223199G>Y g.173200G>Y - - HBA2_000338 - data from Globin Gene Server (HbVar-81), OMIM:var0161, PubMed: Wajcman H - rs281860629 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.183G>Y Hb Zambia r.(?) p.Lys61Asn - VUS g.223211G>Y g.173212G>Y - - HBA2_000345 - data from Globin Gene Server (HbVar-88), OMIM:var0160, ExPASy_002780, PubMed: Barclay GP - rs111033598 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.186G>Y Hb J-Buda r.(?) p.Lys62Asn - VUS g.223214G>Y g.173215G>Y - - HBA2_000347 - data from Globin Gene Server (HbVar-90), OMIM:var0008, ExPASy_002782, PubMed: Hollan SR - rs281864775 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.207C>R Hb G-Philadelphia r.(?) p.Asn69Lys - VUS g.223235C>R g.173236C>R - - HBA2_000356 - 1 more item - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.237C>R Hb Stanleyville-II r.(?) p.Asn79Lys - VUS g.223265C>R g.173266C>R - - HBA2_000372 - 1 more item - rs281860607 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.258C>R Hb AYLESBURY r.(?) p.Asp86Glu - VUS g.223286C>R g.173287C>R - - HBA2_001736 - data from Globin Gene Server (HbVar-2813), Henthorn J; HbVar A-2391-2010; - rs281864579 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.36G>Y Hb Albany-Suma r.(?) p.Lys12Asn - VUS g.222947G>Y g.172948G>Y - - HBA2_000273 - data from Globin Gene Server (HbVar-14), OMIM:var0002, PubMed: Webber BB - rs281860614 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 3 c.384G>Y Hb Jackson r.(?) p.Lys128Asn - VUS g.223554G>Y g.173555G>Y - - HBA2_000440 - 1 more item - rs33972894 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.43T>M Hb Evanston r.(?) p.Trp15Arg - VUS g.222954T>M g.172955T>M - - HBA2_000275 - 1 more item - rs281864810 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.51G>Y Hb Beijing r.(?) p.Lys17Asn - VUS g.222962G>Y g.172963G>Y - - HBA2_000278 - data from Globin Gene Server (HbVar-20), OMIM:var0010, ExPASy_002734, PubMed: Liang CC - rs281860619 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 2 c.96G>Y Hb Prato r.spl? p.Arg32Ser - VUS g.223124G>Y g.173125G>Y - - HBA2_000305 - 1 more item - rs111033606 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 12 2, 3, 1 c.? Hb Nile, Hb Val de Marne, Hb Zaïre, Hb Grady, Hb Neuilly-sur-Marne, Hb Anantharaj, 4 more items r.(?), r.? p.Pro78Ser, p.Ser134Arg, p.Glu117_Phe118insHisLeuProAlaGlu, p.Thr119_Pro120insGluPheThr, p.Lys12Glu, 5 more items - VUS g.?, g.217820_223066del, g.103625_193676del, g.[203508_203509del(;)203509_225435del] g.167821_173067del, g.53625_143676del NM_000558.3:c.232C>T (or HBA2), Ser134Arg, Glu117_Phe118insHisLeuProAlaGlu, Leu87_His88insSerAspLeu, 6 more items - HBA2_001999, HBA2_000446, HBA2_000473, HBA2_000474, HBA2_000478, HBA2_000271, HBA2_000282, HBA2_001494, 4 more items 5.3 kb deletion; alpha-Thal-2 Hbvar-?, PubMed: van Zwieten R, data from Globin Gene Server (HbVar-902),, 10 more items - rs281860615 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
./. 3 _1_3_ c.-21292_*8695del - r.? p.? - VUS g.201620_232294del g.151621_182295del - - HBA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. 12 - c.-7512_*11101del - r.0? p.0? - pathogenic g.215401_234701del g.165402_184702del -╬▒SEA - HBA1_004000 - PubMed: He 2017, Journal: He 2017 - - Germline - 4/951 individuals, 1/951 individuals, 2/951 individuals, 8/951 individuals, 75/951 individuals, 1 more item - - - Baosheng Zhu
+?/. 1 _1 c.-91G>A - r.(?) p.(=) - VUS g.222821G>A g.172822G>A - - HBA2_001906 - data from Globin Gene Server (HbVar-3017), PubMed: Qadah T - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 _1 c.-81C>A - r.(?) p.(=) - VUS g.222831C>A g.172832C>A - - HBA2_001900 - data from Globin Gene Server (HbVar-2990), PubMed: Qadah T - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.-59C>T - r.(?) p.(=) - VUS g.222853C>T g.172854C>T - - HBA2_001898 - data from Globin Gene Server (HbVar-2986), PubMed: Qadah T - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
?/., +?/. 2 1 c.-24C>G - r.(?) p.(=) - VUS g.222888C>G g.172889C>G HBA2(NM_000517.6):c.-24C>G - HBA2_001842 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, HbVar - Belinda Giardine and Ross Hardison
-?/. 1 - c.-21C>T - r.(?) p.(=) - likely benign g.222891C>T g.172892C>T HBA2(NM_000517.6):c.-21C>T - HBA2_004003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 1 c.1A>G - r.(?) p.0? - VUS g.222912A>G g.172913A>G Initiation codon (A->G) alpha2alpha1 hybrid gene -alpha(-3.7 kb) alpha-Thal-1, Met1Val - HBA2_000492 - data from Globin Gene Server (HbVar-1059), OMIM:var0022, PubMed: Olivieri NF - rs121909803 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+/. 2 1 c.1del - r.(?) p.(Met1?) - pathogenic g.222912del g.172913del HBA2: c.1del, HBA2: c.1delA - HBA2_004001 - PubMed: He 2017, Journal: He 2017 - - Germline - 1/951 individuals - - - Baosheng Zhu
+?/. 1 1 c.2del - r.(?) p.0? - VUS g.222913del g.172914del Initiation codon (-T); ATG->A-G of the alpha2 gene alpha-Thal-2, 2delT - HBA2_000494 - data from Globin Gene Server (HbVar-1062), OMIM:var0069 - rs63750678 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.2T>C - r.(?) p.0? - VUS g.222913T>C g.172914T>C ATG->ACG alpha2 gene alpha-Thal-2, Met1Thr - HBA2_000493 - data from Globin Gene Server (HbVar-1061), OMIM:var0020, Giordano P (A-9724-2010), PubMed: Pirastu M - rs111033603 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.2T>G alpha2 ATG>AGG r.(?) p.0? - VUS g.222913T>G g.172914T>G p.Met1Arg - HBA2_001786 - data from Globin Gene Server (HbVar-2866), Dr. Nooshin BAYAT (D-7936-2012), PubMed: Zandian K - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.3G>T Hb Valdecilla r.(?) p.0? - VUS g.222914G>T g.172915G>T p.Met1Ile - HBA2_002017 - Hbvar-?, PubMed: de la Fuente-Gonzalo F - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.4G>A Hb A2-Fontanabuona r.(?) p.(Val2Met) - VUS g.222915G>A g.172916G>A - - HBA2_000550 - data from Globin Gene Server (HbVar-2577), - rs63751178 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.4G>C Hb St.Jozef r.(?) p.(Val2Leu) - VUS g.222915G>C g.172916G>C - - HBA2_000559 - data from Globin Gene Server (HbVar-2605), PubMed: Harteveld CL - rs63751178 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.5T>A Hb Thionville r.(?) p.(Val2Glu) - VUS g.222916T>A g.172917T>A - - HBA2_000468 - data from Globin Gene Server (HbVar-711), OMIM:var0168, ExPASy_002719 - rs33981821 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.5T>C Hb Lyon-Bron r.(?) p.(Val2Ala) - VUS g.222916T>C g.172917T>C - - HBA2_000504 - data from Globin Gene Server (HbVar-1111), Francina A (E-3974-2010), PubMed: Lacan P - rs33981821 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.5T>G Hb Antananarivo r.(?) p.(Val2Gly) - VUS g.222916T>G g.172917T>G - - HBA2_000260 - data from Globin Gene Server (HbVar-1), OMIM:var0038, PubMed: Kister J - rs33981821 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
-?/. 1 - c.7C>T - r.(?) p.(Leu3=) - likely benign g.222918C>T g.172919C>T HBA2(NM_000517.6):c.7C>T (p.L3=) - HBA2_004004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 1 c.8T>C Hb Kaiser West End r.(?) p.(Leu3Pro) - VUS g.222919T>C g.172920T>C - - HBA2_001648 - data from Globin Gene Server (HbVar-2756), Gallivan (A-9986-2010) - rs63750585 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.8T>G Hb Chongqing r.(?) p.(Leu3Arg) - VUS g.222919T>G g.172920T>G - - HBA2_000261 - data from Globin Gene Server (HbVar-2), OMIM:var0021, ExPASy_002720, PubMed: Zeng YT - rs63750585 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.10T>C Hb Central Middlesex r.(?) p.(Ser4Pro) - VUS g.222921T>C g.172922T>C - - HBA2_001577 - data from Globin Gene Server (HbVar-2635), Green B; Henthorn J; Mantio D; HbVar A-2391-2010; - rs281864478 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.11C>A Hb Tallahassee r.(?) p.(Ser4Tyr) - VUS g.222922C>A g.172923C>A - - HBA2_001998 - Hbvar-?, PubMed: Kutlar F - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.11C>G Hb Teterboro r.(?) p.(Ser4Cys) - VUS g.222922C>G g.172923C>G - - HBA2_001704 - data from Globin Gene Server (HbVar-2768), Hoyer JD (F-7016-2010); - rs281864556 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.14C>A Hb Bellevue r.(?) p.(Pro5His) - VUS g.222925C>A g.172926C>A - - HBA2_000543 - data from Globin Gene Server (HbVar-2541), Hoyer JD (F-7016-2010); - rs63750946 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.14C>G Hb Goree r.(?) p.(Pro5Arg) - VUS g.222925C>G g.172926C>G - - HBA2_001583 - data from Globin Gene Server (HbVar-2643), Francina A (E-3974-2010);Joly P (E-4142-2010); - rs63750946 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.16G>C Hb Karachi r.(?) p.(Ala6Pro) - VUS g.222927G>C g.172928G>C - - HBA2_000263 - data from Globin Gene Server (HbVar-4), OMIM:var0080, ExPASy_002722, PubMed: Ahmad A - rs281864804 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.17C>A Hb J-Toronto r.(?) p.(Ala6Asp) - VUS g.222928C>A g.172929C>A - - HBA2_000262 - 1 more item - rs281864803 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.19G>A Hb Dunn r.(?) p.(Asp7Asn) - VUS g.222930G>A g.172931G>A - - HBA2_000265 - 1 more item - rs281864806 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.19G>C Hb Galliera II r.(?) p.(Asp7His) - VUS g.222930G>C g.172931G>C - - HBA2_000551 - 1 more item - rs281864806 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.19G>T Hb Woodville r.(?) p.(Asp7Tyr) - VUS g.222930G>T g.172931G>T - - HBA2_000267 - data from Globin Gene Server (HbVar-8), OMIM:var0158, ExPASy_002727, PubMed: Como PF - rs281864806 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.19_21del Hb Boyle Heights r.(?) p.(Asp7del) - VUS g.222930_222932del g.172931_172933del 19_21delGAC - HBA2_000469 - data from Globin Gene Server (HbVar-715), OMIM:var0018, PubMed: Zhao W, PubMed: Johnson CS - rs34623271 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.20A>C Hb Sawara r.(?) p.(Asp7Ala) - VUS g.222931A>C g.172932A>C - - HBA2_000264 - 1 more item - rs281864805 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.20A>G Hb Swan River r.(?) p.(Asp7Gly) - VUS g.222931A>G g.172932A>G - - HBA2_000268 - 1 more item - rs281864805 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.20A>T Hb Ferndown r.(?) p.(Asp7Val) - VUS g.222931A>T g.172932A>T - - HBA2_000266 - data from Globin Gene Server (HbVar-7), OMIM:var0032, ExPASy_002726, PubMed: Lee-Potter JP - rs281864805 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.22A>C Hb J-Brainerd r.(?) p.(Lys8Gln) - VUS g.222933A>C g.172934A>C - - HBA2_001710 - data from Globin Gene Server (HbVar-2792), Hoyer JD (F-7016-2010); - rs34817956 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.22A>G Hb Kurosaki r.(?) p.(Lys8Glu) - VUS g.222933A>G g.172934A>G - - HBA2_000270 - 1 more item - rs34817956 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.22A>T - r.(?) p.(Lys8*) - VUS g.222933A>T g.172934A>T Codon 7 Lys>Stop (Alpha 2) - HBA2_001819 - data from Globin Gene Server (HbVar-2903), BAYAT Nooshin (D-7936-2012), PubMed: Bayat N - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.23A>C Hb Nayarit r.(?) p.(Lys8Thr) - VUS g.222934A>C g.172935A>C - - HBA2_001711 - data from Globin Gene Server (HbVar-2794), Hoyer JD (F-7016-2010); - rs63749921 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.23A>G Hb Guanajuato r.(?) p.(Lys8Arg) - VUS g.222934A>G g.172935A>G - - HBA2_000561 - data from Globin Gene Server (HbVar-2610), Gallivan (A-9986-2010) - rs63749921 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.24G>C Hb Tatras r.(?) p.(Lys8Asn) - VUS g.222935G>C g.172936G>C - - HBA2_000269 - data from Globin Gene Server (HbVar-10), OMIM:var0187, PubMed: Wajcman H - rs281860604 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.27del - r.(?) p.(Asn10Thrfs*40) - VUS g.222938del g.172939del codon 8 (-C); ACC (Thr)>AC- Alpha0, 27delC - HBA2_001765 - data from Globin Gene Server (HbVar-2841), - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.29A>C Hb Broomfield r.(?) p.(Asn10Thr) - VUS g.222940A>C g.172941A>C - - HBA2_000527 - data from Globin Gene Server (HbVar-1239), Wild B; HbVar A-2391-2010; - rs281860608 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.29A>G Hb Zurich-Hottingen r.(?) p.(Asn10Ser) - VUS g.222940A>G g.172941A>G - - HBA2_000506 - 1 more item - rs281860608 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.30C>A Hb Zhaoqing r.(?) p.(Asn10Lys) - VUS g.222941C>A g.172942C>A - - HBA2_002042 - Hbvar-?, Anping Xu (K-9299-2018) - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.30C>G Hb Park Ridge r.(?) p.(Asn10Lys) - VUS g.222941C>G g.172942C>G - - HBA2_000482 - 1 more item - rs111033604 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.34A>C Hb J-Wenchang-Wuming r.(?) p.(Lys12Gln) - VUS g.222945A>C g.172946A>C - - HBA2_000272 - 1 more item - rs281864808 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.38C>A Hb J-Paris-I r.(?) p.(Ala13Asp) - VUS g.222949C>A g.172950C>A - - HBA2_000274 - 1 more item - rs281864809 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.40G>C Hb Ravenscourt Park r.(?) p.(Ala14Pro) - VUS g.222951G>C g.172952G>C - - HBA2_000528 - data from Globin Gene Server (HbVar-1240), Wild B; HbVar A-2391-2010; - rs281860609 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.41C>A Hb Litle Waltham r.(?) p.(Ala14Asp) - VUS g.222952C>A g.172953C>A - - HBA2_001901 - data from Globin Gene Server (HbVar-3005), - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.41_46del Hb Souli r.(?) p.(Ala14_Trp15del) - VUS g.222952_222957del g.172953_172958del 40_45delGCCTGG - HBA2_001847 - data from Globin Gene Server (HbVar-2933), KATTAMIS A.; TRAEGER-SYNODINOS J.; HbVar A-2391-2010; - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.44G>T - r.(?) p.(Trp15Leu) - VUS g.222955G>T g.172956G>T codon 14 (TGG>TTG) - HBA2_001641 - data from Globin Gene Server (HbVar-2737), Barnaby C (E-6612-2010); - rs281864546 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.45G>A - r.(?) p.(Trp15*) - VUS g.222956G>A g.172957G>A Alpha-2 codon 14 G>A (Trp>Stop) - HBA2_001849 - 1 more item - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.45G>C Hb Bladensburg r.(?) p.(Trp15Cys) - VUS g.222956G>C g.172957G>C - - HBA2_000552 - data from Globin Gene Server (HbVar-2587), Gallivan (A-9986-2010) - rs63750367 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.46G>C Hb Ottawa r.(?) p.(Gly16Arg) - VUS g.222957G>C g.172958G>C - - HBA2_000276 - 1 more item - rs281864811 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.49A>G Hb I r.(?) p.(Lys17Glu) - VUS g.222960A>G g.172961A>G - - HBA2_000277 - 1 more item - rs281865555 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.50A>C Hb Boa Esperanca r.(?) p.(Lys17Thr) - VUS g.222961A>C g.172962A>C - - HBA2_000523 - data from Globin Gene Server (HbVar-1217), PubMed: Jorge SE - rs281864812 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.50A>T Hb Harbin r.(?) p.(Lys17Met) - VUS g.222961A>T g.172962A>T - - HBA2_000279 - data from Globin Gene Server (HbVar-21), OMIM:var0050, ExPASy_002733, PubMed: Zeng YT - rs281864812 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.52G>T Hb Dapu r.(?) p.(Val18Phe) - VUS g.222963G>T g.172964G>T - - HBA2_001978 - Hbvar-?, PubMed: Yang Y - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.53T>A Hb Oxford r.(?) p.(Val18Asp) - VUS g.222964T>A g.172965T>A - - HBA2_001902 - data from Globin Gene Server (HbVar-3006), - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.55G>C Hb Handsworth r.(?) p.(Gly19Arg) - VUS g.222966G>C g.172967G>C - - HBA2_000280 - 1 more item - rs63750294 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.56del - r.(?) p.(Gly19Alafs*31) - VUS g.222967del g.172968del 56delG, Codon 19 (-G) - HBA2_000537 - data from Globin Gene Server (HbVar-2516), PubMed: Harteveld CL - rs63751096 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.56G>A Hb Al-Ain Abu Dhabi r.(?) p.(Gly19Asp) - VUS g.222967G>A g.172968G>A - - HBA2_000281 - data from Globin Gene Server (HbVar-23), OMIM:var0175, ExPASy_002735, PubMed: Abbes S - rs63750679 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.59C>A Hb J-Tashikuergan r.(?) p.(Ala20Glu) - VUS g.222970C>A g.172971C>A - - HBA2_000283 - data from Globin Gene Server (HbVar-25), OMIM:var0076, ExPASy_002738, PubMed: Li HJ - rs281864813 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.60del - r.(?) p.(His21Thrfs*29) - VUS g.222971del g.172972del 60delG - HBA2_001808 - data from Globin Gene Server (HbVar-2889), Elisabeth Saller (B-1147-2010); - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.61C>G Hb Nikaia r.(?) p.(His21Asp) - VUS g.222972C>G g.172973C>G - - HBA2_000480 - data from Globin Gene Server (HbVar-911), OMIM:var0042, PubMed: Prehu C - rs281864814 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.61C>T Hb Necker Enfants-Malades r.(?) p.(His21Tyr) - VUS g.222972C>T g.172973C>T - - HBA2_000284 - data from Globin Gene Server (HbVar-26), OMIM:var0104, PubMed: Wajcman H - rs281864814 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.62A>C Hb Anderlecht r.(?) p.(His21Pro) - VUS g.222973A>C g.172974A>C - - HBA2_000479 - data from Globin Gene Server (HbVar-910), PubMed: Cotton F. - rs281864815 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.62A>G Hb Hobart r.(?) p.(His21Arg) - VUS g.222973A>G g.172974A>G - - HBA2_000286 - data from Globin Gene Server (HbVar-28), OMIM:var0053, ExPASy_002740, PubMed: Fleming PJ - rs281864815 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.63C>A Hb Le Lamentin r.(?) p.(His21Gln) - VUS g.222974C>A g.172975C>A - - HBA2_000285 - 1 more item - rs41525149 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.64G>C Hb Fontainebleau r.(?) p.(Ala22Pro) - VUS g.222975G>C g.172976G>C - - HBA2_000288 - data from Globin Gene Server (HbVar-30), OMIM:var0033, ExPASy_002742, PubMed: Wajcman H - rs281864817 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.64G>T Hb Zoetermeer r.(?) p.(Ala22Ser) - VUS g.222975G>T g.172976G>T - - HBA2_000560 - data from Globin Gene Server (HbVar-2606), PubMed: Harteveld CL - rs281864817 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.65C>A Hb J-Nyanza r.(?) p.(Ala22Asp) - VUS g.222976C>A g.172977C>A - - HBA2_000287 - data from Globin Gene Server (HbVar-29), OMIM:var0068, ExPASy_002741, PubMed: Kendall AG - rs281864816 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.65C>T Hb Venetia r.(?) p.(Ala22Val) - VUS g.222976C>T g.172977C>T - - HBA2_001643 - data from Globin Gene Server (HbVar-2742), Gallivan (A-9986-2010) - rs281864816 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.66dup - r.(?) p.(Gly23Trpfs*35) - VUS g.222977dup g.172978dup alpha-2 Codon 21/22 (+T), 66_67insT - HBA2_001634 - data from Globin Gene Server (HbVar-2727), Old J (E-5816-2010) - rs281864538 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.68G>A Hb J-Medellin r.(?) p.(Gly23Asp) - VUS g.222979G>A g.172980G>A - - HBA2_000289 - data from Globin Gene Server (HbVar-31), OMIM:var0067, ExPASy_002743 - rs281864818 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.69C>T - r.(?) p.(=) - VUS g.222980C>T g.172981C>T Codon 22 C>T - HBA2_000536 - data from Globin Gene Server (HbVar-2514), Harteveld C et al. (E-4552-2010); - rs63751457 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+/. 1 - c.69del - r.(?) p.(Glu24SerfsTer26) - pathogenic g.222980del g.172981del HBA2(NM_000517.6):c.69delC (p.E24Sfs*26) - HBA2_004005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 1 c.69_77del Hb Zhanjiang r.(?) p.(Glu24_Gly26del) - VUS g.222980_222988del g.172981_172989del 69_77delCGAGTATGG - HBA2_001752 - data from Globin Gene Server (HbVar-2834), PubMed: Liao C - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.70G>A Hb Chad r.(?) p.(Glu24Lys) - VUS g.222981G>A g.172982G>A - - HBA2_000291 - 1 more item - rs281864819 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.70G>C Hb Memphis r.(?) p.(Glu24Gln) - VUS g.222981G>C g.172982G>C - - HBA2_000290 - data from Globin Gene Server (HbVar-32), OMIM:var0096, PubMed: Cooper MR, PubMed: Kraus LM - rs281864819 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.70G>T - r.(?) p.(Glu24*) - VUS g.222981G>T g.172982G>T Cd23 (GAG>TAG) - HBA2_000540 - data from Globin Gene Server (HbVar-2531), PubMed: Siala H - rs281864819 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.71A>C Hb Dayton r.(?) p.(Glu24Ala) - VUS g.222982A>C g.172983A>C - - HBA2_001692 - data from Globin Gene Server (HbVar-2764), Hoyer JD (F-7016-2010); - rs281864820 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.71A>G Hb Reims r.(?) p.(Glu24Gly) - VUS g.222982A>G g.172983A>G - - HBA2_000293 - data from Globin Gene Server (HbVar-35), OMIM:var0124, ExPASy_002744, PubMed: Bardakdjian-Michau J - rs281864820 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.71A>T Hb G-Audhali r.(?) p.(Glu24Val) - VUS g.222982A>T g.172983A>T - - HBA2_000292 - 1 more item - rs281864820 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.72G>T Hb Lisbon r.(?) p.(Glu24Asp) - VUS g.222983G>T g.172984G>T - - HBA2_000294 - data from Globin Gene Server (HbVar-36), OMIM:var0188, PubMed: Wajcman H - rs281860621 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
+?/. 1 1 c.73T>C Hb Luxembourg r.(?) p.(Tyr25His) - VUS g.222984T>C g.172985T>C - - HBA2_000295 - 1 more item - rs281864821 Germline - - - - - HbVar - Belinda Giardine and Ross Hardison
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