Canonical Allele Identifier: CA120380

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 9409
• ClinVar RCV Id: RCV000010012 ; RCV000429694 ; RCV001186483 ; RCV001255666 ; RCV001588807
• dbSNP Id: rs121913388
• gnomAD v2: 9-21971120-G-A
• gnomAD v4: 9-21971121-G-A
• COSMIC: COSM12475 ; COSM99191 ; COSM99935 ; COSM1314729
• MyVariant Identifiers: chr9:g.21971120G>A (hg19) ; chr9:g.21971121G>A (hg38)
• PubMed: PMID:8153634 ; PMID:21609436 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971121G>A , CM000671.2:g.21971121G>A	GRCh38
NC_000009.11:g.21971120G>A , CM000671.1:g.21971120G>A	GRCh37
NC_000009.10:g.21961120G>A	NCBI36
NG_007485.1:g.28371C>T , LRG_11:g.28371C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.238C>T MANE Select	ENSP00000307101.5:p.Arg80Ter
ENST00000404796.3:c.348-58312G>A	ENSP00000385916.2:n.348-58312G>A
ENST00000579755.2:c.281C>T MANE Plus Clinical	ENSP00000462950.1:p.Pro94Leu
ENST00000304494.9:c.238C>T	ENSP00000307101.5:p.Arg80Ter
ENST00000361570.4:c.281C>T	ENSP00000355153.4:p.Pro94Leu
ENST00000380150.2:n.212C>T
ENST00000380151.3:c.512C>T	ENSP00000369496.3:n.512C>T
ENST00000404796.2:c.348-58312G>A	ENSP00000385916.2:n.348-58312G>A
ENST00000479692.2:c.85C>T	ENSP00000466887.1:p.Arg29Ter
ENST00000494262.5:c.85C>T	ENSP00000464952.1:p.Arg29Ter
ENST00000497750.1:c.85C>T	ENSP00000468510.1:p.Arg29Ter
ENST00000498124.1:c.238C>T	ENSP00000418915.1:p.Arg80Ter
ENST00000498628.6:c.85C>T	ENSP00000467857.1:p.Arg29Ter
ENST00000530628.2:c.281C>T	ENSP00000432664.2:p.Pro94Leu
ENST00000578845.2:c.85C>T	ENSP00000467390.1:p.Arg29Ter
ENST00000579122.1:c.238C>T	ENSP00000464202.1:p.Arg80Ter
ENST00000579755.1:c.281C>T	ENSP00000462950.1:p.Pro94Leu
NM_000077.4:c.238C>T , LRG_11t1:c.238C>T	NP_000068.1:p.Arg80Ter
NM_001195132.1:c.238C>T	NP_001182061.1:p.Arg80Ter
NM_058195.3:c.281C>T , LRG_11t2:c.281C>T	NP_478102.2:p.Pro94Leu
NM_058197.4:c.512C>T	NP_478104.2:n.512C>T
XM_005251343.1:c.85C>T	XP_005251400.1:p.Arg29Ter
XM_011517675.1:c.238C>T	XP_011515977.1:p.Arg80Ter
XM_011517676.1:c.238C>T	XP_011515978.1:p.Arg80Ter
XM_011517679.1:c.85C>T	XP_011515981.1:p.Arg29Ter
XR_929159.1:n.639C>T
XR_929161.1:n.428C>T
XR_929162.1:n.428C>T
XR_929163.1:n.377C>T
XR_929164.1:n.160C>T
NM_001363763.1:c.85C>T	NP_001350692.1:p.Arg29Ter
XM_011517675.2:c.238C>T	XP_011515977.1:p.Arg80Ter
XM_011517676.2:c.238C>T	XP_011515978.1:p.Arg80Ter
XR_929159.2:n.568C>T
NM_001363763.2:c.85C>T	NP_001350692.1:p.Arg29Ter
NM_000077.5:c.238C>T MANE Select	NP_000068.1:p.Arg80Ter
NM_001195132.2:c.238C>T	NP_001182061.1:p.Arg80Ter
NM_058195.4:c.281C>T MANE Plus Clinical	NP_478102.2:p.Pro94Leu
NM_058197.5:c.*161C>T	NP_478104.2:n.*161C>T