Canonical Allele Identifier: CA125616
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15664
ClinVar RCV Id: RCV000016950
dbSNP Id: rs41378349
MyVariant Identifiers: chr16:g.223205C>A (hg19) chr16:g.173206C>A (hg38)
PubMed: PMID:10569723
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173206C>A , CM000678.2:g.173206C>A GRCh38
NC_000016.9:g.223205C>A , CM000678.1:g.223205C>A GRCh37
NC_000016.8:g.163205C>A NCBI36
NG_000006.1:g.34069C>A
NG_059186.1:g.1556C>A
NG_059271.1:g.5360C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.177C>A MANE Select ENSP00000251595.6:p.His59Gln
ENST00000251595.10:c.177C>A ENSP00000251595.6:p.His59Gln
ENST00000397806.1:c.81C>A ENSP00000380908.1:p.His27Gln
ENST00000482565.1:n.313C>A
ENST00000484216.1:n.146C>A
NM_000517.4:c.177C>A NP_000508.1:p.His59Gln
NM_000517.6:c.177C>A MANE Select NP_000508.1:p.His59Gln
Search 100 bp 5'
Search 100 bp 3'