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) LOVD-team, but with Curator vacancy
Total number of public variants reported 386
Unique public DNA variants reported 199
Individuals with public variants 2585
Hidden variants 4
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 30, 2019
Version CHEK2:190930

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
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
GeneCards CHEK2
GeneTests CHEK2

Active transcripts




NCBI ID     

NCBI Protein ID     

00024043 22 CHK2 checkpoint homolog (S. pombe), transcript variant 1 NM_007194.3 NP_009125.1 386

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