Canonical Allele Identifier: CA11287392

Gene:

Linked Data

• dbSNP Id: rs2200245
• gnomAD v2: 2-52949477-C-T
• gnomAD v3: 2-52722339-C-T
• gnomAD v4: 2-52722339-C-T
• MyVariant Identifiers: chr2:g.52949477C>T (hg19) ; chr2:g.52722339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.52722339C>T , CM000664.2:g.52722339C>T	GRCh38
NC_000002.11:g.52949477C>T , CM000664.1:g.52949477C>T	GRCh37
NC_000002.10:g.52802981C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002959384.1:n.918G>A