Canonical Allele Identifier: CA120391

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 9414
• ClinVar RCV Id: RCV000010021 ; RCV000160421 ; RCV000212399 ; RCV000205342 ; RCV003473076
• dbSNP Id: rs104894095
• ExAC: 9:21971199 C / G
• gnomAD v2: 9-21971199-C-G
• gnomAD v3: 9-21971200-C-G
• gnomAD v4: 9-21971200-C-G
• COSMIC: COSM753727 ; COSM753728 ; COSM753729 ; COSM4859542
• MyVariant Identifiers: chr9:g.21971199C>G (hg19) ; chr9:g.21971200C>G (hg38)
• PubMed: PMID:7569991 ; PMID:8570179 ; PMID:8595405 ; PMID:8710906 ; PMID:9328469 ; PMID:9389568 ; PMID:9425228 ; PMID:9516223 ; PMID:9603434 ; PMID:9699728 ; PMID:10491434 ; PMID:11595726 ; PMID:15304098 ; PMID:16307646 ; PMID:16905682 ; PMID:20340136

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971200C>G , CM000671.2:g.21971200C>G	GRCh38
NC_000009.11:g.21971199C>G , CM000671.1:g.21971199C>G	GRCh37
NC_000009.10:g.21961199C>G	NCBI36
NG_007485.1:g.28292G>C , LRG_11:g.28292G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.159G>C MANE Select	ENSP00000307101.5:p.Met53Ile
ENST00000404796.3:c.348-58233C>G	ENSP00000385916.2:n.348-58233C>G
ENST00000579755.2:c.202G>C MANE Plus Clinical	ENSP00000462950.1:p.Asp68His
ENST00000304494.9:c.159G>C	ENSP00000307101.5:p.Met53Ile
ENST00000361570.4:c.202G>C	ENSP00000355153.4:p.Asp68His
ENST00000380150.2:n.133G>C
ENST00000380151.3:c.433G>C	ENSP00000369496.3:n.433G>C
ENST00000404796.2:c.348-58233C>G	ENSP00000385916.2:n.348-58233C>G
ENST00000479692.2:c.6G>C	ENSP00000466887.1:p.Met2Ile
ENST00000494262.5:c.6G>C	ENSP00000464952.1:p.Met2Ile
ENST00000497750.1:c.6G>C	ENSP00000468510.1:p.Met2Ile
ENST00000498124.1:c.159G>C	ENSP00000418915.1:p.Met53Ile
ENST00000498628.6:c.6G>C	ENSP00000467857.1:p.Met2Ile
ENST00000530628.2:c.202G>C	ENSP00000432664.2:p.Asp68His
ENST00000578845.2:c.6G>C	ENSP00000467390.1:p.Met2Ile
ENST00000579122.1:c.159G>C	ENSP00000464202.1:p.Met53Ile
ENST00000579755.1:c.202G>C	ENSP00000462950.1:p.Asp68His
NM_000077.4:c.159G>C , LRG_11t1:c.159G>C	NP_000068.1:p.Met53Ile
NM_001195132.1:c.159G>C	NP_001182061.1:p.Met53Ile
NM_058195.3:c.202G>C , LRG_11t2:c.202G>C	NP_478102.2:p.Asp68His
NM_058197.4:c.433G>C	NP_478104.2:n.433G>C
XM_005251343.1:c.6G>C	XP_005251400.1:p.Met2Ile
XM_011517675.1:c.159G>C	XP_011515977.1:p.Met53Ile
XM_011517676.1:c.159G>C	XP_011515978.1:p.Met53Ile
XM_011517679.1:c.6G>C	XP_011515981.1:p.Met2Ile
XR_929159.1:n.560G>C
XR_929161.1:n.349G>C
XR_929162.1:n.349G>C
XR_929163.1:n.298G>C
XR_929164.1:n.81G>C
NM_001363763.1:c.6G>C	NP_001350692.1:p.Met2Ile
XM_011517675.2:c.159G>C	XP_011515977.1:p.Met53Ile
XM_011517676.2:c.159G>C	XP_011515978.1:p.Met53Ile
XR_929159.2:n.489G>C
NM_001363763.2:c.6G>C	NP_001350692.1:p.Met2Ile
NM_000077.5:c.159G>C MANE Select	NP_000068.1:p.Met53Ile
NM_001195132.2:c.159G>C	NP_001182061.1:p.Met53Ile
NM_058195.4:c.202G>C MANE Plus Clinical	NP_478102.2:p.Asp68His
NM_058197.5:c.*82G>C	NP_478104.2:n.*82G>C