The CDKN2A gene homepage

General information
Gene symbol CDKN2A
Gene name cyclin-dependent kinase inhibitor 2A
Chromosome 9
Chromosomal band p21
Imprinted Unknown
Genomic reference LRG_11
Transcript reference NM_000077.4, NM_058195.3
Exon/intron information NM_000077.4 exon/intron table, NM_058195.3 exon/intron table
Associated with diseases CMM-2, melanoma, syndrome, melanoma astrocytoma, syndrome, melanoma-pancreatic cancer
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Nienke van der Stoep
Total number of public variants reported 494
Unique public DNA variants reported 179
Individuals with public variants 677
Hidden variants 2
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 March 10, 2007
Date last updated September 17, 2021
Version CDKN2A: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_000077.4, NM_058195.3.
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 https://www.LOVD.nl/CDKN2A
HGNC 1787
Entrez Gene 1029
PubMed articles CDKN2A
OMIM - Gene 600160
OMIM - Diseases CMM-2 (melanoma, cutaneous, malignant, susceptibility to, type 2 (CMM-2))
syndrome, melanoma astrocytoma
syndrome, melanoma-pancreatic cancer
HGMD CDKN2A
GeneCards CDKN2A
GeneTests CDKN2A
Orphanet CDKN2A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004876 9 cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4), transcript variant 1 NM_000077.4 NP_000068.1 494
00024207 9 transcript variant 4 NM_058195.3 NP_478102.2 484


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