Canonical Allele Identifier: CA125654

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15688
• ClinVar RCV Id: RCV000016979 ; RCV000016978 ; RCV003736541 ; RCV002051788
• dbSNP Id: rs41328049
• ExAC: 16:223206 G / C
• gnomAD v2: 16-223206-G-C
• gnomAD v4: 16-173207-G-C
• MyVariant Identifiers: chr16:g.223206G>C (hg19) ; chr16:g.173207G>C (hg38)
• PubMed: PMID:15658192

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173207G>C , CM000678.2:g.173207G>C	GRCh38
NC_000016.9:g.223206G>C , CM000678.1:g.223206G>C	GRCh37
NC_000016.8:g.163206G>C	NCBI36
NG_000006.1:g.34070G>C
NG_059186.1:g.1557G>C
NG_059271.1:g.5361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.178G>C MANE Select	ENSP00000251595.6:p.Gly60Arg
ENST00000251595.10:c.178G>C	ENSP00000251595.6:p.Gly60Arg
ENST00000397806.1:c.82G>C	ENSP00000380908.1:p.Gly28Arg
ENST00000482565.1:n.314G>C
ENST00000484216.1:n.147G>C
NM_000517.4:c.178G>C	NP_000508.1:p.Gly60Arg
NM_000517.6:c.178G>C MANE Select	NP_000508.1:p.Gly60Arg