Canonical Allele Identifier: CA770000106

Gene:

Linked Data

• dbSNP Id: rs1355069958
• gnomAD v3: 2-52722509-G-A
• gnomAD v4: 2-52722509-G-A
• MyVariant Identifiers: chr2:g.52949647G>A (hg19) ; chr2:g.52722509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.52722509G>A , CM000664.2:g.52722509G>A	GRCh38
NC_000002.11:g.52949647G>A , CM000664.1:g.52949647G>A	GRCh37
NC_000002.10:g.52803151G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002959384.1:n.748C>T