Canonical Allele Identifier: CA373085059
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1742377
ClinVar RCV Id: RCV002330529

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968233T>A , CM000671.2:g.21968233T>A GRCh38
NC_000009.11:g.21968232T>A , CM000671.1:g.21968232T>A GRCh37
NC_000009.10:g.21958232T>A NCBI36
NG_007485.1:g.31259A>T , LRG_11:g.31259A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.467A>T MANE Select ENSP00000307101.5:p.Asp156Val
ENST00000404796.3:c.348-61200T>A ENSP00000385916.2:n.348-61200T>A
ENST00000579755.2:c.*111A>T MANE Plus Clinical ENSP00000462950.1:n.*111A>T
ENST00000304494.9:c.467A>T ENSP00000307101.5:p.Asp156Val
ENST00000361570.4:c.509A>T ENSP00000355153.4:p.Asp170Val
ENST00000380151.3:c.741A>T ENSP00000369496.3:n.741A>T
ENST00000404796.2:c.348-61200T>A ENSP00000385916.2:n.348-61200T>A
ENST00000494262.5:c.314A>T ENSP00000464952.1:p.Asp105Val
ENST00000498124.1:c.*160A>T ENSP00000418915.1:n.*160A>T
ENST00000498628.6:c.314A>T ENSP00000467857.1:p.Asp105Val
ENST00000530628.2:c.*37A>T ENSP00000432664.2:n.*37A>T
ENST00000578845.2:c.314A>T ENSP00000467390.1:p.Asp105Val
ENST00000579122.1:c.393A>T ENSP00000464202.1:p.Arg131=
ENST00000579755.1:c.*111A>T ENSP00000462950.1:n.*111A>T
NM_000077.4:c.467A>T , LRG_11t1:c.467A>T NP_000068.1:p.Asp156Val
NM_001195132.1:c.*160A>T NP_001182061.1:n.*160A>T
NM_058195.3:c.*111A>T , LRG_11t2:c.*111A>T NP_478102.2:n.*111A>T
NM_058197.4:c.741A>T NP_478104.2:n.741A>T
XM_005251343.1:c.314A>T XP_005251400.1:p.Asp105Val
XM_011517679.1:c.314A>T XP_011515981.1:p.Asp105Val
NM_001363763.1:c.314A>T NP_001350692.1:p.Asp105Val
NM_001363763.2:c.314A>T NP_001350692.1:p.Asp105Val
NM_000077.5:c.467A>T MANE Select NP_000068.1:p.Asp156Val
NM_001195132.2:c.*160A>T NP_001182061.1:n.*160A>T
NM_058195.4:c.*111A>T MANE Plus Clinical NP_478102.2:n.*111A>T
NM_058197.5:c.*390A>T NP_478104.2:n.*390A>T