Canonical Allele Identifier: CA276415096
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs63750460
MyVariant Identifiers: chr16:g.223318T>A (hg19) chr16:g.173319T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173319T>A , CM000678.2:g.173319T>A GRCh38
NC_000016.9:g.223318T>A , CM000678.1:g.223318T>A GRCh37
NC_000016.8:g.163318T>A NCBI36
NG_000006.1:g.34182T>A
NG_059186.1:g.1669T>A
NG_059271.1:g.5473T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.290T>A MANE Select ENSP00000251595.6:p.Val97Asp
ENST00000251595.10:c.290T>A ENSP00000251595.6:p.Val97Asp
ENST00000397806.1:c.194T>A ENSP00000380908.1:p.Val65Asp
ENST00000482565.1:n.426T>A
ENST00000484216.1:n.259T>A
NM_000517.4:c.290T>A NP_000508.1:p.Val97Asp
NM_000517.6:c.290T>A MANE Select NP_000508.1:p.Val97Asp
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