Canonical Allele Identifier: CA55082023

Gene:

Linked Data

• dbSNP Id: rs183275706
• gnomAD v2: 2-123641511-C-T
• gnomAD v3: 2-122883935-C-T
• gnomAD v4: 2-122883935-C-T
• MyVariant Identifiers: chr2:g.123641511C>T (hg19) ; chr2:g.122883935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122883935C>T , CM000664.2:g.122883935C>T	GRCh38
NC_000002.11:g.123641511C>T , CM000664.1:g.123641511C>T	GRCh37
NC_000002.10:g.123357981C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923292.1:n.1125-1007C>T
XR_001739692.1:n.1451-1007C>T
XR_923292.2:n.1358-1007C>T