The CHEK2 gene homepage

General information
Gene symbol CHEK2
Gene name checkpoint kinase 2
Chromosome 22
Chromosomal band q12.1
Imprinted Unknown
Genomic reference NG_008150.1
Transcript reference NM_001005735.1, NM_001257387.1, NM_007194.3, NM_145862.2
Associated with diseases LFS-2, cancer, breast, familial, cancer, prostate, osteosarcoma
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 28
Unique public DNA variants reported 7
Individuals with public variants 26
Hidden variants 38
Date created November 30, -0001
Date last updated September 28, 2016
Version CHEK2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:16627
Entrez Gene 11200
PubMed articles CHEK2
OMIM - Gene 604373
OMIM - Diseases LFS-2 (Li-Fraumeni syndrome, type 2 (LFS-2))
cancer, breast, familial
cancer, prostate
osteosarcoma


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010785 22 transcript variant 4 NM_001257387.1 NP_001244316.1 28
00010783 22 transcript variant 2 NM_145862.2 NP_665861.1 10
00010784 22 transcript variant 1 NM_007194.3 NP_009125.1 10
00010786 22 transcript variant 3 NM_001005735.1 NP_001005735.1 10