Canonical Allele Identifier: CA190729820
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1468600
ClinVar RCV Id: RCV001970690
dbSNP Id: rs113798404
COSMIC: COSM13548

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970995C>T , CM000671.2:g.21970995C>T GRCh38
NC_000009.11:g.21970994C>T , CM000671.1:g.21970994C>T GRCh37
NC_000009.10:g.21960994C>T NCBI36
NG_007485.1:g.28497G>A , LRG_11:g.28497G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.364G>A MANE Select ENSP00000307101.5:p.Gly122Ser
ENST00000404796.3:c.348-58438C>T ENSP00000385916.2:n.348-58438C>T
ENST00000579755.2:c.*8G>A MANE Plus Clinical ENSP00000462950.1:n.*8G>A
ENST00000304494.9:c.364G>A ENSP00000307101.5:p.Gly122Ser
ENST00000361570.4:c.406G>A ENSP00000355153.4:p.Gly136Ser
ENST00000380150.2:n.338G>A
ENST00000380151.3:c.638G>A ENSP00000369496.3:n.638G>A
ENST00000404796.2:c.348-58438C>T ENSP00000385916.2:n.348-58438C>T
ENST00000479692.2:c.211G>A ENSP00000466887.1:p.Gly71Ser
ENST00000494262.5:c.211G>A ENSP00000464952.1:p.Gly71Ser
ENST00000497750.1:c.211G>A ENSP00000468510.1:p.Gly71Ser
ENST00000498124.1:c.364G>A ENSP00000418915.1:p.Gly122Ser
ENST00000498628.6:c.211G>A ENSP00000467857.1:p.Gly71Ser
ENST00000530628.2:c.*8G>A ENSP00000432664.2:n.*8G>A
ENST00000578845.2:c.211G>A ENSP00000467390.1:p.Gly71Ser
ENST00000579122.1:c.364G>A ENSP00000464202.1:p.Gly122Ser
ENST00000579755.1:c.*8G>A ENSP00000462950.1:n.*8G>A
NM_000077.4:c.364G>A , LRG_11t1:c.364G>A NP_000068.1:p.Gly122Ser
NM_001195132.1:c.364G>A NP_001182061.1:p.Gly122Ser
NM_058195.3:c.*8G>A , LRG_11t2:c.*8G>A NP_478102.2:n.*8G>A
NM_058197.4:c.638G>A NP_478104.2:n.638G>A
XM_005251343.1:c.211G>A XP_005251400.1:p.Gly71Ser
XM_011517675.1:c.364G>A XP_011515977.1:p.Gly122Ser
XM_011517676.1:c.364G>A XP_011515978.1:p.Gly122Ser
XM_011517679.1:c.211G>A XP_011515981.1:p.Gly71Ser
XR_929159.1:n.765G>A
XR_929161.1:n.554G>A
XR_929162.1:n.554G>A
XR_929163.1:n.503G>A
XR_929164.1:n.286G>A
NM_001363763.1:c.211G>A NP_001350692.1:p.Gly71Ser
XM_011517675.2:c.364G>A XP_011515977.1:p.Gly122Ser
XM_011517676.2:c.364G>A XP_011515978.1:p.Gly122Ser
XR_929159.2:n.694G>A
NM_001363763.2:c.211G>A NP_001350692.1:p.Gly71Ser
NM_000077.5:c.364G>A MANE Select NP_000068.1:p.Gly122Ser
NM_001195132.2:c.364G>A NP_001182061.1:p.Gly122Ser
NM_058195.4:c.*8G>A MANE Plus Clinical NP_478102.2:n.*8G>A
NM_058197.5:c.*287G>A NP_478104.2:n.*287G>A