Canonical Allele Identifier: CA125604
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15658
ClinVar RCV Id: RCV000016944
dbSNP Id: rs41507451
MyVariant Identifiers: chr16:g.223593C>A (hg19) chr16:g.173594C>A (hg38)
PubMed: PMID:3191134
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173594C>A , CM000678.2:g.173594C>A GRCh38
NC_000016.9:g.223593C>A , CM000678.1:g.223593C>A GRCh37
NC_000016.8:g.163593C>A NCBI36
NG_000006.1:g.34457C>A
NG_059186.1:g.1944C>A
NG_059271.1:g.5748C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.423C>A MANE Select ENSP00000251595.6:p.Tyr141Ter
ENST00000251595.10:c.423C>A ENSP00000251595.6:p.Tyr141Ter
ENST00000397806.1:c.327C>A ENSP00000380908.1:p.Tyr109Ter
ENST00000482565.1:n.559C>A
NM_000517.4:c.423C>A NP_000508.1:p.Tyr141Ter
NM_000517.6:c.423C>A MANE Select NP_000508.1:p.Tyr141Ter
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