Canonical Allele Identifier: CA5012160

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 483327
• ClinVar RCV Id: RCV001821674 ; RCV003476343
• dbSNP Id: rs749588877
• ExAC: 9:21970950 G / GC
• gnomAD v2: 9-21970950-G-GC
• gnomAD v3: 9-21970951-G-GC
• gnomAD v4: 9-21970951-G-GC
• COSMIC: COSM3092237 ; COSM3092238 ; COSM3092239
• MyVariant Identifiers: chr9:g.21970951dup (hg19) ; chr9:g.21970950_21970951insC (hg19) ; chr9:g.21970952dup (hg38) ; chr9:g.21970951_21970952insC (hg38)
• PubMed: PMID:9439668 ; PMID:19500876 ; PMID:25064638

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970957dup , CM000671.2:g.21970957dup	GRCh38
NC_000009.11:g.21970956dup , CM000671.1:g.21970956dup	GRCh37
NC_000009.10:g.21960956dup	NCBI36
NG_007485.1:g.28540dup , LRG_11:g.28540dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.407dup MANE Select	ENSP00000307101.5:p.Thr137HisfsTer5
ENST00000404796.3:c.348-58476dup	ENSP00000385916.2:n.348-58476dup
ENST00000579755.2:c.*51dup MANE Plus Clinical	ENSP00000462950.1:n.*51dup
ENST00000304494.9:c.407dup	ENSP00000307101.5:p.Thr137HisfsTer5
ENST00000361570.4:c.449dup	ENSP00000355153.4:p.Thr151HisfsTer5
ENST00000380150.2:n.381dup
ENST00000380151.3:c.681dup	ENSP00000369496.3:n.681dup
ENST00000404796.2:c.348-58476dup	ENSP00000385916.2:n.348-58476dup
ENST00000479692.2:c.254dup	ENSP00000466887.1:p.Thr86HisfsTer5
ENST00000494262.5:c.254dup	ENSP00000464952.1:p.Thr86HisfsTer5
ENST00000497750.1:c.254dup	ENSP00000468510.1:p.Thr86HisfsTer5
ENST00000498124.1:c.407dup	ENSP00000418915.1:p.Thr137HisfsTer5
ENST00000498628.6:c.254dup	ENSP00000467857.1:p.Thr86HisfsTer5
ENST00000530628.2:c.*27+24dup	ENSP00000432664.2:n.*27+24dup
ENST00000578845.2:c.254dup	ENSP00000467390.1:p.Thr86HisfsTer5
ENST00000579122.1:c.383+24dup	ENSP00000464202.1:n.383+24dup
ENST00000579755.1:c.*51dup	ENSP00000462950.1:n.*51dup
NM_000077.4:c.407dup , LRG_11t1:c.407dup	NP_000068.1:p.Thr137HisfsTer5
NM_001195132.1:c.407dup	NP_001182061.1:p.Thr137HisfsTer5
NM_058195.3:c.*51dup , LRG_11t2:c.*51dup	NP_478102.2:n.*51dup
NM_058197.4:c.681dup	NP_478104.2:n.681dup
XM_005251343.1:c.254dup	XP_005251400.1:p.Thr86HisfsTer5
XM_011517675.1:c.407dup	XP_011515977.1:p.Thr137HisfsTer5
XM_011517676.1:c.407dup	XP_011515978.1:p.Thr137HisfsTer5
XM_011517679.1:c.254dup	XP_011515981.1:p.Thr86HisfsTer5
XR_929159.1:n.808dup
XR_929161.1:n.597dup
XR_929162.1:n.597dup
XR_929163.1:n.546dup
XR_929164.1:n.329dup
NM_001363763.1:c.254dup	NP_001350692.1:p.Thr86HisfsTer5
XM_011517675.2:c.407dup	XP_011515977.1:p.Thr137HisfsTer5
XM_011517676.2:c.407dup	XP_011515978.1:p.Thr137HisfsTer5
XR_929159.2:n.737dup
NM_001363763.2:c.254dup	NP_001350692.1:p.Thr86HisfsTer5
NM_000077.5:c.407dup MANE Select	NP_000068.1:p.Thr137HisfsTer5
NM_001195132.2:c.407dup	NP_001182061.1:p.Thr137HisfsTer5
NM_058195.4:c.*51dup MANE Plus Clinical	NP_478102.2:n.*51dup
NM_058197.5:c.*330dup	NP_478104.2:n.*330dup