Canonical Allele Identifier: CA756214897

Gene:

Linked Data

• dbSNP Id: rs1220395709
• gnomAD v3: 2-122883870-T-G
• gnomAD v4: 2-122883870-T-G
• MyVariant Identifiers: chr2:g.123641446T>G (hg19) ; chr2:g.122883870T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122883870T>G , CM000664.2:g.122883870T>G	GRCh38
NC_000002.11:g.123641446T>G , CM000664.1:g.123641446T>G	GRCh37
NC_000002.10:g.123357916T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923292.1:n.1125-1072T>G
XR_001739692.1:n.1451-1072T>G
XR_923292.2:n.1358-1072T>G