Canonical Allele Identifier: CA125601

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15656
• ClinVar RCV Id: RCV000016942 ; RCV000022606 ; RCV002051787 ; RCV001811170
• dbSNP Id: rs41417548
• ExAC: 16:223484 G / A
• gnomAD v2: 16-223484-G-A
• gnomAD v4: 16-173485-G-A
• MyVariant Identifiers: chr16:g.223484G>A (hg19) ; chr16:g.173485G>A (hg38)
• PubMed: PMID:8555062 ; PMID:10722113

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173485G>A , CM000678.2:g.173485G>A	GRCh38
NC_000016.9:g.223484G>A , CM000678.1:g.223484G>A	GRCh37
NC_000016.8:g.163484G>A	NCBI36
NG_000006.1:g.34348G>A
NG_059186.1:g.1835G>A
NG_059271.1:g.5639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.314G>A MANE Select	ENSP00000251595.6:p.Cys105Tyr
ENST00000251595.10:c.314G>A	ENSP00000251595.6:p.Cys105Tyr
ENST00000397806.1:c.218G>A	ENSP00000380908.1:p.Cys73Tyr
ENST00000482565.1:n.450G>A
NM_000517.4:c.314G>A	NP_000508.1:p.Cys105Tyr
NM_000517.6:c.314G>A MANE Select	NP_000508.1:p.Cys105Tyr