Canonical Allele Identifier: CA51878338

Gene:

Linked Data

• dbSNP Id: rs1008674075
• gnomAD v2: 2-88315816-T-C
• gnomAD v3: 2-88016297-T-C
• gnomAD v4: 2-88016297-T-C
• MyVariant Identifiers: chr2:g.88315816T>C (hg19) ; chr2:g.88016297T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016297T>C , CM000664.2:g.88016297T>C	GRCh38
NC_000002.11:g.88315816T>C , CM000664.1:g.88315816T>C	GRCh37
NC_000002.10:g.88096931T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.642T>C
XR_940336.3:n.642T>C