Canonical Allele Identifier: CA125587
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15648
ClinVar RCV Id: RCV000016934
dbSNP Id: rs281864834
MyVariant Identifiers: chr16:g.223170G>T (hg19) chr16:g.173171G>T (hg38)
PubMed: PMID:8195005
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173171G>T , CM000678.2:g.173171G>T GRCh38
NC_000016.9:g.223170G>T , CM000678.1:g.223170G>T GRCh37
NC_000016.8:g.163170G>T NCBI36
NG_000006.1:g.34034G>T
NG_059186.1:g.1521G>T
NG_059271.1:g.5325G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.142G>T MANE Select ENSP00000251595.6:p.Asp48Tyr
ENST00000251595.10:c.142G>T ENSP00000251595.6:p.Asp48Tyr
ENST00000397806.1:c.46G>T ENSP00000380908.1:p.Asp16Tyr
ENST00000482565.1:n.278G>T
ENST00000484216.1:n.111G>T
NM_000517.4:c.142G>T NP_000508.1:p.Asp48Tyr
NM_000517.6:c.142G>T MANE Select NP_000508.1:p.Asp48Tyr
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