Canonical Allele Identifier: CA894254636

Gene:

Linked Data

• dbSNP Id: rs747892837
• gnomAD v4: 2-88016332-C-A
• MyVariant Identifiers: chr2:g.88315851C>A (hg19) ; chr2:g.88016332C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016332C>A , CM000664.2:g.88016332C>A	GRCh38
NC_000002.11:g.88315851C>A , CM000664.1:g.88315851C>A	GRCh37
NC_000002.10:g.88096966C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.677C>A
XR_940336.3:n.677C>A