Canonical Allele Identifier: CA63405652

Gene:

Linked Data

• dbSNP Id: rs749497987
• gnomAD v2: 2-195871630-G-A
• gnomAD v3: 2-195006906-G-A
• gnomAD v4: 2-195006906-G-A
• MyVariant Identifiers: chr2:g.195871630G>A (hg19) ; chr2:g.195006906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195006906G>A , CM000664.2:g.195006906G>A	GRCh38
NC_000002.11:g.195871630G>A , CM000664.1:g.195871630G>A	GRCh37
NC_000002.10:g.195579875G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001739836.1:n.553+52529C>T