Canonical Allele Identifier: CA762732316

Gene:

Linked Data

• dbSNP Id: rs1374782733
• gnomAD v3: 2-195007121-T-C
• gnomAD v4: 2-195007121-T-C
• MyVariant Identifiers: chr2:g.195871845T>C (hg19) ; chr2:g.195007121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195007121T>C , CM000664.2:g.195007121T>C	GRCh38
NC_000002.11:g.195871845T>C , CM000664.1:g.195871845T>C	GRCh37
NC_000002.10:g.195580090T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001739836.1:n.553+52314A>G