Canonical Allele Identifier: CA51761763

Gene:

Linked Data

• dbSNP Id: rs12052359
• gnomAD v2: 2-81872922-C-A
• gnomAD v3: 2-81645798-C-A
• gnomAD v4: 2-81645798-C-A
• MyVariant Identifiers: chr2:g.81872922C>A (hg19) ; chr2:g.81645798C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.81645798C>A , CM000664.2:g.81645798C>A	GRCh38
NC_000002.11:g.81872922C>A , CM000664.1:g.81872922C>A	GRCh37
NC_000002.10:g.81726433C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940294.1:n.563+66189C>A
XR_940295.1:n.485+97051C>A
XR_001739571.1:n.485+97051C>A