Canonical Allele Identifier: CA63405660

Gene:

Linked Data

• dbSNP Id: rs755421773
• gnomAD v3: 2-195006982-C-A
• gnomAD v4: 2-195006982-C-A
• MyVariant Identifiers: chr2:g.195871706C>A (hg19) ; chr2:g.195006982C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195006982C>A , CM000664.2:g.195006982C>A	GRCh38
NC_000002.11:g.195871706C>A , CM000664.1:g.195871706C>A	GRCh37
NC_000002.10:g.195579951C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52453G>T