Canonical Allele Identifier: CA762732244

Gene:

Linked Data

• dbSNP Id: rs1262596454
• gnomAD v3: 2-195006901-T-G
• gnomAD v4: 2-195006901-T-G
• MyVariant Identifiers: chr2:g.195871625T>G (hg19) ; chr2:g.195006901T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195006901T>G , CM000664.2:g.195006901T>G	GRCh38
NC_000002.11:g.195871625T>G , CM000664.1:g.195871625T>G	GRCh37
NC_000002.10:g.195579870T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52534A>C