Canonical Allele Identifier: CA120400
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 9422
dbSNP Id: rs113798404

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.364G>C MANE Select ENSP00000307101.5:p.Gly122Arg
ENST00000404796.3:c.348-58438C>G ENSP00000385916.2:n.348-58438C>G
ENST00000579755.2:c.*8G>C MANE Plus Clinical ENSP00000462950.1:n.*8G>C
ENST00000304494.9:c.364G>C ENSP00000307101.5:p.Gly122Arg
ENST00000361570.4:c.406G>C ENSP00000355153.4:p.Gly136Arg
ENST00000380150.2:n.338G>C
ENST00000380151.3:c.638G>C ENSP00000369496.3:n.638G>C
ENST00000404796.2:c.348-58438C>G ENSP00000385916.2:n.348-58438C>G
ENST00000479692.2:c.211G>C ENSP00000466887.1:p.Gly71Arg
ENST00000494262.5:c.211G>C ENSP00000464952.1:p.Gly71Arg
ENST00000497750.1:c.211G>C ENSP00000468510.1:p.Gly71Arg
ENST00000498124.1:c.364G>C ENSP00000418915.1:p.Gly122Arg
ENST00000498628.6:c.211G>C ENSP00000467857.1:p.Gly71Arg
ENST00000530628.2:c.*8G>C ENSP00000432664.2:n.*8G>C
ENST00000578845.2:c.211G>C ENSP00000467390.1:p.Gly71Arg
ENST00000579122.1:c.364G>C ENSP00000464202.1:p.Gly122Arg
ENST00000579755.1:c.*8G>C ENSP00000462950.1:n.*8G>C
NM_000077.4:c.364G>C , LRG_11t1:c.364G>C NP_000068.1:p.Gly122Arg
NM_001195132.1:c.364G>C NP_001182061.1:p.Gly122Arg
NM_058195.3:c.*8G>C , LRG_11t2:c.*8G>C NP_478102.2:n.*8G>C
NM_058197.4:c.638G>C NP_478104.2:n.638G>C
XM_005251343.1:c.211G>C XP_005251400.1:p.Gly71Arg
XM_011517675.1:c.364G>C XP_011515977.1:p.Gly122Arg
XM_011517676.1:c.364G>C XP_011515978.1:p.Gly122Arg
XM_011517679.1:c.211G>C XP_011515981.1:p.Gly71Arg
XR_929159.1:n.765G>C
XR_929161.1:n.554G>C
XR_929162.1:n.554G>C
XR_929163.1:n.503G>C
XR_929164.1:n.286G>C
NM_001363763.1:c.211G>C NP_001350692.1:p.Gly71Arg
XM_011517675.2:c.364G>C XP_011515977.1:p.Gly122Arg
XM_011517676.2:c.364G>C XP_011515978.1:p.Gly122Arg
XR_929159.2:n.694G>C
NM_001363763.2:c.211G>C NP_001350692.1:p.Gly71Arg
NM_000077.5:c.364G>C MANE Select NP_000068.1:p.Gly122Arg
NM_001195132.2:c.364G>C NP_001182061.1:p.Gly122Arg
NM_058195.4:c.*8G>C MANE Plus Clinical NP_478102.2:n.*8G>C
NM_058197.5:c.*287G>C NP_478104.2:n.*287G>C