Canonical Allele Identifier: CA125624

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15668
• ClinVar RCV Id: RCV000016954 ; RCV000022607 ; RCV001078244 ; RCV002496386
• dbSNP Id: rs587776827
• gnomAD v4: 16-173471-G-A
• MyVariant Identifiers: chr16:g.223470G>A (hg19) ; chr16:g.173471G>A (hg38)
• PubMed: PMID:11570724

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173471G>A , CM000678.2:g.173471G>A	GRCh38
NC_000016.9:g.223470G>A , CM000678.1:g.223470G>A	GRCh37
NC_000016.8:g.163470G>A	NCBI36
NG_000006.1:g.34334G>A
NG_059186.1:g.1821G>A
NG_059271.1:g.5625G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.301-1G>A MANE Select	ENSP00000251595.6:n.301-1G>A
ENST00000251595.10:c.301-1G>A	ENSP00000251595.6:n.301-1G>A
ENST00000397806.1:c.205-1G>A	ENSP00000380908.1:n.205-1G>A
ENST00000482565.1:n.437-1G>A
NM_000517.4:c.301-1G>A	NP_000508.1:n.301-1G>A
NM_000517.6:c.301-1G>A MANE Select	NP_000508.1:n.301-1G>A