CDKN2A cyclin dependent kinase inhibitor 2A

Information
Symbol
CDKN2A
Type
protein-coding
Description
cyclin dependent kinase inhibitor 2A
Entrez Gene ID
1029
Genome
hg19
Position
chr9:21,968,055-21,974,865
Genome
hg38
Position
chr9:21,968,056-21,974,866
MIM
600160 OMIM
HGNC
HGNC:1787 HGNC
Ensembl
ENSG00000147889 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 206
Likely pathogenic 5 126
Benign 13 60
Likely benign 5 626
Conflicting classifications of pathogenicity 0 260
not provided 495 12
other 2 0
Pathogenic; risk factor 0 2
Uncertain significance 58 1,308
Ranking
ClinVar
0
0
1,026
1,196
18
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 :
Filtering :
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 ARF
SYNONYM CAI2
SYNONYM CDK4I
SYNONYM CDKN2
SYNONYM CMM2
SYNONYM INK4
SYNONYM INK4A
SYNONYM MLM
SYNONYM MTS-1
SYNONYM MTS1
SYNONYM P14
SYNONYM P14ARF
SYNONYM P16
SYNONYM P16-INK4A
SYNONYM P16INK4
SYNONYM P16INK4A
SYNONYM P19
SYNONYM P19ARF
SYNONYM TP16
MIM 600160 OMIM
HGNC HGNC:1787 HGNC
Ensembl ENSG00000147889 Ensembl
AllianceGenome HGNC:1787
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000479692.2 hg38 chr9 21,969,569 21,971,346 1,778
ENST00000579122.1 hg38 chr9 21,967,991 21,974,858 6,868
ENST00000304494.10 hg38 chr9 21,967,752 21,974,857 7,106
ENST00000498628.6 hg38 chr9 21,968,105 21,995,301 27,197
ENST00000530628.2 hg38 chr9 21,968,001 21,994,411 26,411
ENST00000579755.2 hg38 chr9 21,967,752 21,994,392 26,641
ENST00000498124.1 hg38 chr9 21,968,056 21,974,866 6,811
ENST00000494262.5 hg38 chr9 21,968,182 21,995,269 27,088
ENST00000578845.2 hg38 chr9 21,967,996 21,971,332 3,337
ENST00000497750.1 hg38 chr9 21,970,716 21,971,400 685
ENST00000304494.10 hg19 chr9 21,967,751 21,974,856 7,106
ENST00000579755.2 hg19 chr9 21,967,751 21,994,391 26,641
ENST00000579122.1 hg19 chr9 21,967,990 21,974,857 6,868
ENST00000578845.2 hg19 chr9 21,967,995 21,971,331 3,337
ENST00000530628.2 hg19 chr9 21,968,000 21,994,410 26,411
ENST00000498124.1 hg19 chr9 21,968,055 21,974,865 6,811
ENST00000498628.6 hg19 chr9 21,968,104 21,995,300 27,197
ENST00000494262.5 hg19 chr9 21,968,181 21,995,268 27,088
ENST00000479692.2 hg19 chr9 21,969,568 21,971,345 1,778
ENST00000497750.1 hg19 chr9 21,970,715 21,971,399 685
KeyValue
strand-
UniProtTSG
start21,967,750
VogelsteinTSG
Gene SymbolCDKN2A
Entrez GeneId1,029
Chr Band9p21
end21,994,489
chrchr9
Namecyclin-dependent kinase inhibitor 2A (p16(INK4a)) gene
Genome browser