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HBA2

From SNPedia

is agene
is mentioned by
Full namehemoglobin, alpha 2
EntrezGene3040
PheGenI3040
VariationViewer3040
ClinVarHBA2
GeneCardsHBA2
dbSNP3040
SADR3040
HugeNav3040
wikipediaHBA2
googleHBA2
gopubmedHBA2
EVSHBA2
HEFalMpHBA2
MyGene2HBA2
23andMeHBA2
UniProtP69905
EnsemblENSG00000188536
OMIM141850
# SNPs126
 Max MagnitudeChromosome positionSummary
i5004432
i5004436
i5900654
i5900722
i5900735
rs10610090177,103
rs1110335980173,212
rs111033599173,215
rs111033600172,959
rs1110336010173,236
rs1110336020173,264
rs1110336033172,914
rs111033604172,942
rs1110336050173,003
rs1110336060173,125
rs111033607172,934
rs1219098033172,913
rs2818606023173,012
rs2818645433173,007
rs2818645503172,987
rs2818645603173,003
rs2818648103172,955
rs2818648173172,976
rs2818648193172,982
rs2818648773173,310
rs2818648893173,560
rs281865555172,961
rs289288820173,248
rs289288870223,211
rs289288880172,914
rs289288893173,503
rs339144700177,106
rs339238440222,962
rs339334810173,550
rs339577660173,551
rs339594830223,199
rs339607900173,571
rs339728940173,555
rs339774790223,124
rs339818210172,917
rs339834160173,295
rs339855740173,215
rs339870533173,520
rs339969020222,947
rs341023390177,116
rs344623880223,153
rs348179563172,934
rs348680360177,110
rs349562020172,959
rs351875670173,535
... further results

Alpha thalassemias are hemoglobin disorders arising from mutations in the HBA1 or HBA2 genes.

The table below (you may need to scroll pretty far due to formatting issues) lists all known HBA1 and HBA2 carrier mutations with dbSNP rs-ids. The last column (phenotype) shows whether the variant is considered an alpha-thalassemia silent allele (α+), or an alpha-thalassemia trait (α0) allele.[PMID 20507641OA-icon.png]

rsid 23andMe term synonyms (c. or p.) OMIM On chip? HbVar ID Variant Name Phenotype
rs587776828 c.1delA (p.Met1fs) 141850.0071
rs121909803 c.1A>G (p.Met1Val) 141850.0022 Ancestry v2 1175,1059
rs63750678 c.2delT (p.Met1fs) 141850.0069
rs111033603 c.2T>C (p.Met1Thr) 141850.002 1061
rs111033603 c.2T>G 2866
rs34817956 c.22A>T 23andMe v3, 23andMe v4 2903
rs281864810 c.43T>G (p.Trp15Gly)
rs281864810 c.43T>C
rs281864810 c.43T>A
rs63750367 c.45G>A 2934
rs63751096 c.56delG 2516
rs281864817 i5900654 c.64G>C (p.Ala22Pro) 30 Fontainebleau α+
rs281864817 c.64G>T (p.Ala22Ser) 2606 Zoetermeer α+
rs63751457 rs63751457 c.69C>T (p.Gly23Gly) 141850.0064 23andMe v3, 23andMe v4 2514 α+
rs281864819 i5004436 c.70G>T (p.Glu24X) 141850.0063 2531 α0
rs281864550 c.75T>G 2750
rs41341344 rs41341344 c.89T>C (p.Leu30Pro) 141850.0026 23andMe v3, 23andMe v4 45 Agrinio α+
rs281864560 c.91_93delGAG (p.Glu31del) 2776 α+ - α0
rs281864543 c.95G>A 2734 α+ - α0
rs41474145 i5900735 c.95+2_95+6delTGAGG 1065 α+
rs281860602 c.95+5G>A 2598
rs41457746 rs41457746 c.96-2A>G 141850.0056 23andMe v3, 23andMe v4 1066 α+
rs41515552 rs41515552 c.99G>A (p.Met33Ile) 1235 Amsterdam α+ - α0
rs41430445 rs41430445 c.101T>C (p.Phe34Ser) 141850.0058 23andMe v3, 23andMe v4 1159 Chartres α+
rs63750776 rs63750776 c.106T>C (p.Ser36Pro) 2570 Evora α+ - α0
rs63750531 c.149_150delGC 2575
rs41323248 rs41323248 c.200T>C (p.Leu67Pro) 141850.0045 23andMe v3, 23andMe v4 916 Dartmouth α+ - α0
rs63750093 rs63750093 c.271A>T (p.Lys91X) 2532 α+
rs281864877 c.281T>G (p.Val94Gly) 150 Bronte α+
rs63751238 rs63751238 c.300+2T>A 2522 α+ - α0
rs587776827 i5004432 c.301-1G>A 141850.0044 α+ - α0
rs63750752 c.311A>T (p.His104Leu) 2519 Bronovo α+
rs41417548 rs41417548 c.314G>A (p.Cys105Tyr) 141850.0031 23andMe v3, 23andMe v4 167 Sallanches α+
rs63750010 rs63750010 c.326C>A (p.Thr109Asn) 2539 Bleuland α+
rs41479844 rs41479844 c.329T>G (p.Leu110Arg) 141850.0007 23andMe v3, 23andMe v4 168 Suan Dok α+
rs28928889 c.332C>A (p.Ala111Asp) 23andMe v1, 23andMe v3, 23andMe v4 169 Petah Tikva α+
rs63750404 c.339C>G 937 Leida α+ - α0
rs63751471 c.340_351delCTCCCCGCCGAG 937 Leida α+ - α0
rs746988006 c.342_343delC (p.Leu114fs)
rs33987053 i5004445 c.349G>T (p.Glu117X) 141850.0021 1069 α+
rs41397847 c.377T>G (p.Leu126Arg) 141850.0067 1226 Plasencia α+
rs41397847 c.377T>C (p.Leu126Pro) 141850.0005 187 Quong Sze α+
rs41397847 c.377T>A (p.Leu126Gln) 2592 Westeinde α0
rs281864889 i5900722 c.389T>C (p.Leu130Pro) 196 Utrecht α+
rs41529844 c.391G>C (p.Ala131Pro) 141850.0017 197 Sun Prairie α+
rs63751417 rs63751417 c.394T>C (p.Ser132Pro) 23andMe v3, 23andMe v4 199 Questembert α+
rs63750708 rs63750708 c.398T>G (p.Val133Gly) 23andMe v3, 23andMe v4 200 Caen α+
rs41469945 rs41469945 c.410T>C (p.Leu137Pro) 141850.003 23andMe v3, 23andMe v4 204 Bibba α+
rs41464951 c.427T>C (p.X143Gln) 141850.0001 703 Constant Spring α+
rs41464951 c.427T>A (p.X143Lys) 141850.0002 704 Icaria α+
rs41464951 c.427T>G (p.X143Glu) 141850.0028 706 Seal Rock α+
rs41321345 rs41321345 c.428A>C (p.X143Ser) 141850.0003 23andMe v3, 23andMe v4 705 Koya Dora α+
rs41412046 rs41412046 c.429A>T (p.X143Leu) 141850.0027 23andMe v3, 23andMe v4, Ancestry v2 707 Paksé α+
rs63750067 c.*92A>G 141850.0024 Ancestry v2 1071 α+ - α0
rs63751269 c.*94A>C 1192 α+ - α0
rs63751269 c.*94A>G 1070 α+ - α0
rs34220980 c.1A>G (p.Met1Val) 1063 α+
rs33964317 c.43T>G (p.Trp15Gly) 141800.0031 16 Evanston α+
rs33964317 c.43T>C 16 Evanston α+
rs33964317 c.43T>A 16 Evanston α+
rs63750090 c.44G>A (p.Trp15X) 2515 α0
rs281864571 c.62_63insT 2800
rs33939620 c.70G>T (p.Glu24X) 1176 α0
rs63750918 c.95+5G>A 2614
rs34883113 c.96-1G>A 1067 α+
rs35992350 c.112_114delCCC 905 Heraklion α+ - α0
rs28928878 c.179G>A (p.Gly60Asp) 141800.0174 87 Adana α+ - α0
rs34353199 c.184_186delAAG 936 Clinic α+ - α0
rs35672478 c.187_189delGTG 141800.0202 23andMe v3 906 Aghia Sophia α0
rs281864545 c.189delG 2736
rs767911847 c.237delC (p.Asn79fs)
rs34806456 i4990131 c.298A>T or c.298A>G 2901
rs35059618 rs35059618 c.313T>A (p.Cys105Ser) 141800.0217 23andMe v2, 23andMe v3, 23andMe v4, Ancestry v2 1224 Oegstgeest α+
rs754313225 c.326delC (p.Thr109fs) α+ - α0
rs63749948 c.332C>A (p.Ala111Asp) 141800.0117 169 Petah Tikva α+
rs63750751 rs63750751 c.358C>T (p.Pro120Ser) 1123 Groene Hart or Bernalda α+
rs35993655 c.389T>C (p.Leu130Pro) 141800.0191 195 Tunis-Bizerte α+
rs35974739 rs35974739 c.394T>C (p.Ser132Pro) 141800.0167 23andMe v4 199 Questembert α+
rs34021271 c.396_397insT 1142 Pak Num Po α0