Canonical Allele Identifier: CA55081993

Gene:

Linked Data

• dbSNP Id: rs557359466
• gnomAD v2: 2-123641417-G-T
• gnomAD v3: 2-122883841-G-T
• gnomAD v4: 2-122883841-G-T
• MyVariant Identifiers: chr2:g.123641417G>T (hg19) ; chr2:g.122883841G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122883841G>T , CM000664.2:g.122883841G>T	GRCh38
NC_000002.11:g.123641417G>T , CM000664.1:g.123641417G>T	GRCh37
NC_000002.10:g.123357887G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923292.1:n.1125-1101G>T
XR_001739692.1:n.1451-1101G>T
XR_923292.2:n.1358-1101G>T