Canonical Allele Identifier: CA125631
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15673
ClinVar RCV Id: RCV000016959
dbSNP Id: rs63750073
MyVariant Identifiers: chr16:g.223480C>T (hg19) chr16:g.173481C>T (hg38)
PubMed: PMID:12144061
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173481C>T , CM000678.2:g.173481C>T GRCh38
NC_000016.9:g.223480C>T , CM000678.1:g.223480C>T GRCh37
NC_000016.8:g.163480C>T NCBI36
NG_000006.1:g.34344C>T
NG_059186.1:g.1831C>T
NG_059271.1:g.5635C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.310C>T MANE Select ENSP00000251595.6:p.His104Tyr
ENST00000251595.10:c.310C>T ENSP00000251595.6:p.His104Tyr
ENST00000397806.1:c.214C>T ENSP00000380908.1:p.His72Tyr
ENST00000482565.1:n.446C>T
NM_000517.4:c.310C>T NP_000508.1:p.His104Tyr
NM_000517.6:c.310C>T MANE Select NP_000508.1:p.His104Tyr
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