Canonical Allele Identifier: CA276415325
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs41457351
gnomAD v2: 16-223505-C-T
gnomAD v3: 16-173506-C-T
gnomAD v4: 16-173506-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173506C>T , CM000678.2:g.173506C>T GRCh38
NC_000016.9:g.223505C>T , CM000678.1:g.223505C>T GRCh37
NC_000016.8:g.163505C>T NCBI36
NG_000006.1:g.34369C>T
NG_059186.1:g.1856C>T
NG_059271.1:g.5660C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.335C>T MANE Select ENSP00000251595.6:p.Ala112Val
ENST00000251595.10:c.335C>T ENSP00000251595.6:p.Ala112Val
ENST00000397806.1:c.239C>T ENSP00000380908.1:p.Ala80Val
ENST00000482565.1:n.471C>T
NM_000517.4:c.335C>T NP_000508.1:p.Ala112Val
NM_000517.6:c.335C>T MANE Select NP_000508.1:p.Ala112Val