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_007194.3
Exon/intron information NM_007194.3 exon/intron table
Associated with diseases cancer, prostate, LFS-2, cancer, breast, familial, osteosarcoma
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1154
Unique public DNA variants reported 615
Individuals with public variants 6094
Hidden variants 21
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated September 17, 2021
Version CHEK2:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_007194.3.
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
Homepage URL http://www.LOVD.nl/CHEK2
HGNC 16627
Entrez Gene 11200
PubMed articles CHEK2
OMIM - Gene 604373
OMIM - Diseases cancer, prostate
LFS-2 (Li-Fraumeni syndrome, type 2 (LFS-2))
cancer, breast, familial
osteosarcoma
HGMD CHEK2
GeneCards CHEK2
GeneTests CHEK2
Orphanet CHEK2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024043 22 CHK2 checkpoint homolog (S. pombe), transcript variant 1 NM_007194.3 NP_009125.1 1154


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