Canonical Allele Identifier: CA47693359

Gene:

Linked Data

• dbSNP Id: rs1056922541
• gnomAD v3: 2-52722470-T-C
• gnomAD v4: 2-52722470-T-C
• MyVariant Identifiers: chr2:g.52949608T>C (hg19) ; chr2:g.52722470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.52722470T>C , CM000664.2:g.52722470T>C	GRCh38
NC_000002.11:g.52949608T>C , CM000664.1:g.52949608T>C	GRCh37
NC_000002.10:g.52803112T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002959384.1:n.787A>G