Canonical Allele Identifier: CA125652
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15687
dbSNP Id: rs63751457
gnomAD v2: 16-222980-C-T
gnomAD v4: 16-172981-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172981C>T , CM000678.2:g.172981C>T GRCh38
NC_000016.9:g.222980C>T , CM000678.1:g.222980C>T GRCh37
NC_000016.8:g.162980C>T NCBI36
NG_000006.1:g.33844C>T
NG_059186.1:g.1331C>T
NG_059271.1:g.5135C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.69C>T MANE Select ENSP00000251595.6:p.Gly23=
ENST00000251595.10:c.69C>T ENSP00000251595.6:p.Gly23=
ENST00000397806.1:c.-2+23C>T ENSP00000380908.1:n.-2+23C>T
ENST00000482565.1:n.88C>T
ENST00000484216.1:n.38C>T
NM_000517.4:c.69C>T NP_000508.1:p.Gly23=
NM_000517.6:c.69C>T MANE Select NP_000508.1:p.Gly23=