Canonical Allele Identifier: CA47693387

Gene:

Linked Data

• dbSNP Id: rs144102747
• gnomAD v2: 2-52949677-C-A
• gnomAD v3: 2-52722539-C-A
• gnomAD v4: 2-52722539-C-A
• MyVariant Identifiers: chr2:g.52949677C>A (hg19) ; chr2:g.52722539C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.52722539C>A , CM000664.2:g.52722539C>A	GRCh38
NC_000002.11:g.52949677C>A , CM000664.1:g.52949677C>A	GRCh37
NC_000002.10:g.52803181C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002959384.1:n.718G>T