Canonical Allele Identifier: CA63405680

Gene:

Linked Data

• dbSNP Id: rs562861346
• gnomAD v3: 2-195007214-T-C
• gnomAD v4: 2-195007214-T-C
• MyVariant Identifiers: chr2:g.195871938T>C (hg19) ; chr2:g.195007214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195007214T>C , CM000664.2:g.195007214T>C	GRCh38
NC_000002.11:g.195871938T>C , CM000664.1:g.195871938T>C	GRCh37
NC_000002.10:g.195580183T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52221A>G