CHEK2 checkpoint kinase 2

Information
Symbol
CHEK2
Type
protein-coding
Description
checkpoint kinase 2
Entrez Gene ID
11200
Genome
hg19
Position
chr22:29,083,751-29,137,826
Genome
hg38
Position
chr22:28,687,763-28,741,838
MIM
604373 OMIM
HGNC
HGNC:16627 HGNC
Ensembl
ENSG00000183765 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 33 1,308
Likely pathogenic 2 612
Benign 29 135
Likely benign 8 1,694
Conflicting classifications of pathogenicity 0 362
Conflicting classifications of pathogenicity; risk factor 0 2
Established risk allele 0 2
low penetrance 0 2
not provided 55 6
other 4 0
Uncertain significance 126 3,772
Ranking
ClinVar
0
0
3,210
3,927
90
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CDS1
SYNONYM CHK2
SYNONYM HuCds1
SYNONYM LFS2
SYNONYM PP1425
SYNONYM RAD53
SYNONYM TPDS4
SYNONYM hCds1
MIM 604373 OMIM
HGNC HGNC:16627 HGNC
Ensembl ENSG00000183765 Ensembl
AllianceGenome HGNC:16627
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000649563.1 hg38 chr22 28,687,751 28,741,806 54,056
ENST00000403642.5 hg38 chr22 28,687,897 28,734,721 46,825
ENST00000382580.6 hg38 chr22 28,687,763 28,741,838 54,076
ENST00000650281.1 hg38 chr22 28,687,766 28,741,806 54,041
ENST00000402731.6 hg38 chr22 28,687,743 28,734,727 46,985
ENST00000348295.7 hg38 chr22 28,687,743 28,741,834 54,092
ENST00000425190.7 hg38 chr22 28,687,743 28,741,811 54,069
ENST00000464581.6 hg38 chr22 28,687,743 28,712,146 24,404
ENST00000405598.5 hg38 chr22 28,687,762 28,741,800 54,039
ENST00000404276.6 hg38 chr22 28,687,743 28,741,820 54,078
ENST00000348295.7 hg19 chr22 29,083,731 29,137,822 54,092
ENST00000382580.6 hg19 chr22 29,083,751 29,137,826 54,076
ENST00000402731.6 hg19 chr22 29,083,731 29,130,715 46,985
ENST00000403642.5 hg19 chr22 29,083,885 29,130,709 46,825
ENST00000404276.6 hg19 chr22 29,083,731 29,137,808 54,078
ENST00000405598.5 hg19 chr22 29,083,750 29,137,788 54,039
ENST00000425190.7 hg19 chr22 29,083,731 29,137,799 54,069
ENST00000464581.6 hg19 chr22 29,083,731 29,108,134 24,404
ENST00000649563.1 hg19 chr22 29,083,739 29,137,794 54,056
ENST00000650281.1 hg19 chr22 29,083,754 29,137,794 54,041
KeyValue
strand-
UniProtTSG
start29,083,730
Gene SymbolCHEK2
Entrez GeneId11,200
Chr Band22q12.1
end29,137,821
chrchr22
NameCHK2 checkpoint homolog (S. pombe)
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