CDKN2A gene homepage

General information
Gene symbol CDKN2A
Gene name cyclin dependent kinase inhibitor 2A
Chromosome 9
Chromosomal band p21.3
Imprinted Unknown
Genomic reference LRG_11
Transcript reference NM_000077.4, NM_001195132.1, NM_058195.3, NM_058197.4
Associated with diseases CMM2, MAS, MPCS
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 78
Unique public DNA variants reported 30
Individuals with public variants 86
Hidden variants 0
Date created May 20, 2020
Date last updated September 10, 2020
Version CDKN2A:200910

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 1787
Entrez Gene 1029
PubMed articles CDKN2A
OMIM - Gene 600160
OMIM - Diseases CMM2 (Melanoma, cutaneous malignant, 2)
MAS (Melanoma and Neural System Tumor Syndrome)
MPCS (Pancreatic cancer/melanoma syndrome)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000029 9 cyclin-dependent kinase inhibitor 2A, transcript variant 4 NM_058195.3 NP_478102.2 78
00000027 9 cyclin-dependent kinase inhibitor 2A, transcript variant 1 NM_000077.4 NP_000068.1 74
00000028 9 cyclin-dependent kinase inhibitor 2A, transcript variant 5 NM_001195132.1 NP_001182061.1 74
00000030 9 cyclin-dependent kinase inhibitor 2A, transcript variant 3 NM_058197.4 NP_478104.2 74

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