Canonical Allele Identifier: CA158067

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 41578
• ClinVar RCV Id: RCV000034480 ; RCV000120541 ; RCV000129667 ; RCV000411295 ; RCV001081463 ; RCV002490457
• dbSNP Id: rs6413464
• ExAC: 9:21970979 C / A
• gnomAD v2: 9-21970979-C-A
• gnomAD v3: 9-21970980-C-A
• gnomAD v4: 9-21970980-C-A
• COSMIC: COSM12514
• MyVariant Identifiers: chr9:g.21970979C>A (hg19) ; chr9:g.21970980C>A (hg38)
• PubMed: PMID:7640518 ; PMID:7658499 ; PMID:7777061 ; PMID:7970734 ; PMID:7972006 ; PMID:8028660 ; PMID:8595411 ; PMID:9823374 ; PMID:10498896 ; PMID:11595726 ; PMID:12485439 ; PMID:15860862 ; PMID:18573309 ; PMID:18983535 ; PMID:19141585 ; PMID:20505745 ; PMID:21462282 ; PMID:22703879 ; PMID:22995991 ; PMID:24728327 ; PMID:25064638 ; PMID:25780468 ; PMID:26104880 ; PMID:26775776

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970980C>A , CM000671.2:g.21970980C>A	GRCh38
NC_000009.11:g.21970979C>A , CM000671.1:g.21970979C>A	GRCh37
NC_000009.10:g.21960979C>A	NCBI36
NG_007485.1:g.28512G>T , LRG_11:g.28512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.379G>T MANE Select	ENSP00000307101.5:p.Ala127Ser
ENST00000404796.3:c.348-58453C>A	ENSP00000385916.2:n.348-58453C>A
ENST00000579755.2:c.*23G>T MANE Plus Clinical	ENSP00000462950.1:n.*23G>T
ENST00000304494.9:c.379G>T	ENSP00000307101.5:p.Ala127Ser
ENST00000361570.4:c.421G>T	ENSP00000355153.4:p.Ala141Ser
ENST00000380150.2:n.353G>T
ENST00000380151.3:c.653G>T	ENSP00000369496.3:n.653G>T
ENST00000404796.2:c.348-58453C>A	ENSP00000385916.2:n.348-58453C>A
ENST00000479692.2:c.226G>T	ENSP00000466887.1:p.Ala76Ser
ENST00000494262.5:c.226G>T	ENSP00000464952.1:p.Ala76Ser
ENST00000497750.1:c.226G>T	ENSP00000468510.1:p.Ala76Ser
ENST00000498124.1:c.379G>T	ENSP00000418915.1:p.Ala127Ser
ENST00000498628.6:c.226G>T	ENSP00000467857.1:p.Ala76Ser
ENST00000530628.2:c.*23G>T	ENSP00000432664.2:n.*23G>T
ENST00000578845.2:c.226G>T	ENSP00000467390.1:p.Ala76Ser
ENST00000579122.1:c.379G>T	ENSP00000464202.1:p.Ala127Ser
ENST00000579755.1:c.*23G>T	ENSP00000462950.1:n.*23G>T
NM_000077.4:c.379G>T , LRG_11t1:c.379G>T	NP_000068.1:p.Ala127Ser
NM_001195132.1:c.379G>T	NP_001182061.1:p.Ala127Ser
NM_058195.3:c.*23G>T , LRG_11t2:c.*23G>T	NP_478102.2:n.*23G>T
NM_058197.4:c.653G>T	NP_478104.2:n.653G>T
XM_005251343.1:c.226G>T	XP_005251400.1:p.Ala76Ser
XM_011517675.1:c.379G>T	XP_011515977.1:p.Ala127Ser
XM_011517676.1:c.379G>T	XP_011515978.1:p.Ala127Ser
XM_011517679.1:c.226G>T	XP_011515981.1:p.Ala76Ser
XR_929159.1:n.780G>T
XR_929161.1:n.569G>T
XR_929162.1:n.569G>T
XR_929163.1:n.518G>T
XR_929164.1:n.301G>T
NM_001363763.1:c.226G>T	NP_001350692.1:p.Ala76Ser
XM_011517675.2:c.379G>T	XP_011515977.1:p.Ala127Ser
XM_011517676.2:c.379G>T	XP_011515978.1:p.Ala127Ser
XR_929159.2:n.709G>T
NM_001363763.2:c.226G>T	NP_001350692.1:p.Ala76Ser
NM_000077.5:c.379G>T MANE Select	NP_000068.1:p.Ala127Ser
NM_001195132.2:c.379G>T	NP_001182061.1:p.Ala127Ser
NM_058195.4:c.*23G>T MANE Plus Clinical	NP_478102.2:n.*23G>T
NM_058197.5:c.*302G>T	NP_478104.2:n.*302G>T