Canonical Allele Identifier: CA756214904

Gene:

Linked Data

• dbSNP Id: rs1419544933
• gnomAD v3: 2-122883889-T-C
• gnomAD v4: 2-122883889-T-C
• MyVariant Identifiers: chr2:g.123641465T>C (hg19) ; chr2:g.122883889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122883889T>C , CM000664.2:g.122883889T>C	GRCh38
NC_000002.11:g.123641465T>C , CM000664.1:g.123641465T>C	GRCh37
NC_000002.10:g.123357935T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923292.1:n.1125-1053T>C
XR_001739692.1:n.1451-1053T>C
XR_923292.2:n.1358-1053T>C