CDKN2A gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

CDKN2A (cyclin dependent kinase inhibitor 2A)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
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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