Canonical Allele Identifier: CA51878324

Gene:

Linked Data

• dbSNP Id: rs973412129
• gnomAD v2: 2-88315782-T-C
• gnomAD v3: 2-88016263-T-C
• gnomAD v4: 2-88016263-T-C
• MyVariant Identifiers: chr2:g.88315782T>C (hg19) ; chr2:g.88016263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016263T>C , CM000664.2:g.88016263T>C	GRCh38
NC_000002.11:g.88315782T>C , CM000664.1:g.88315782T>C	GRCh37
NC_000002.10:g.88096897T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.608T>C
XR_940336.3:n.608T>C