Canonical Allele Identifier: CA534498901

Gene:

Linked Data

• dbSNP Id: rs1246441010
• gnomAD v2: 2-88315707-G-C
• gnomAD v3: 2-88016188-G-C
• gnomAD v4: 2-88016188-G-C
• MyVariant Identifiers: chr2:g.88315707G>C (hg19) ; chr2:g.88016188G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016188G>C , CM000664.2:g.88016188G>C	GRCh38
NC_000002.11:g.88315707G>C , CM000664.1:g.88315707G>C	GRCh37
NC_000002.10:g.88096822G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.533G>C
XR_940336.3:n.533G>C