Canonical Allele Identifier: CA12983324
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1227284
dbSNP Id: rs3088440
gnomAD v2: 9-21968159-G-A
gnomAD v3: 9-21968160-G-A
gnomAD v4: 9-21968160-G-A
COSMIC: COSM14252

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968160G>A , CM000671.2:g.21968160G>A GRCh38
NC_000009.11:g.21968159G>A , CM000671.1:g.21968159G>A GRCh37
NC_000009.10:g.21958159G>A NCBI36
NG_007485.1:g.31332C>T , LRG_11:g.31332C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.*69C>T MANE Select ENSP00000307101.5:n.*69C>T
ENST00000404796.3:c.348-61273G>A ENSP00000385916.2:n.348-61273G>A
ENST00000579755.2:c.*184C>T MANE Plus Clinical ENSP00000462950.1:n.*184C>T
ENST00000304494.9:c.*69C>T ENSP00000307101.5:n.*69C>T
ENST00000361570.4:c.*69C>T ENSP00000355153.4:n.*69C>T
ENST00000404796.2:c.348-61273G>A ENSP00000385916.2:n.348-61273G>A
ENST00000498124.1:c.*233C>T ENSP00000418915.1:n.*233C>T
ENST00000498628.6:c.*69C>T ENSP00000467857.1:n.*69C>T
ENST00000530628.2:c.*110C>T ENSP00000432664.2:n.*110C>T
ENST00000578845.2:c.*69C>T ENSP00000467390.1:n.*69C>T
ENST00000579122.1:c.*49C>T ENSP00000464202.1:n.*49C>T
ENST00000579755.1:c.*184C>T ENSP00000462950.1:n.*184C>T
NM_000077.4:c.*69C>T , LRG_11t1:c.*69C>T NP_000068.1:n.*69C>T
NM_001195132.1:c.*233C>T NP_001182061.1:n.*233C>T
NM_058195.3:c.*184C>T , LRG_11t2:c.*184C>T NP_478102.2:n.*184C>T
NM_058197.4:c.814C>T NP_478104.2:n.814C>T
XM_005251343.1:c.*69C>T XP_005251400.1:n.*69C>T
XM_011517679.1:c.*69C>T XP_011515981.1:n.*69C>T
NM_001363763.1:c.*69C>T NP_001350692.1:n.*69C>T
NM_001363763.2:c.*69C>T NP_001350692.1:n.*69C>T
NM_000077.5:c.*69C>T MANE Select NP_000068.1:n.*69C>T
NM_001195132.2:c.*233C>T NP_001182061.1:n.*233C>T
NM_058195.4:c.*184C>T MANE Plus Clinical NP_478102.2:n.*184C>T
NM_058197.5:c.*463C>T NP_478104.2:n.*463C>T