Canonical Allele Identifier: CA125582

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15645
• ClinVar RCV Id: RCV000016931 ; RCV001078242 ; RCV001284141
• dbSNP Id: rs121909803
• gnomAD v4: 16-172913-A-G
• MyVariant Identifiers: chr16:g.222912A>G (hg19) ; chr16:g.172913A>G (hg38)
• PubMed: PMID:3620699

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.172913A>G , CM000678.2:g.172913A>G	GRCh38
NC_000016.9:g.222912A>G , CM000678.1:g.222912A>G	GRCh37
NC_000016.8:g.162912A>G	NCBI36
NG_000006.1:g.33776A>G
NG_059186.1:g.1263A>G
NG_059271.1:g.5067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.1A>G MANE Select	ENSP00000251595.6:p.Met1Val
ENST00000251595.10:c.1A>G	ENSP00000251595.6:p.Met1Val
ENST00000397806.1:c.-47A>G	ENSP00000380908.1:n.-47A>G
ENST00000482565.1:n.20A>G
NM_000517.4:c.1A>G	NP_000508.1:p.Met1Val
NM_000517.6:c.1A>G MANE Select	NP_000508.1:p.Met1Val