Canonical Allele Identifier: CA1122184732
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs1819673630

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970811dup , CM000671.2:g.21970811dup GRCh38
NC_000009.11:g.21970810dup , CM000671.1:g.21970810dup GRCh37
NC_000009.10:g.21960810dup NCBI36
NG_007485.1:g.28682dup , LRG_11:g.28682dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.457+92dup MANE Select ENSP00000307101.5:n.457+92dup
ENST00000404796.3:c.348-58622dup ENSP00000385916.2:n.348-58622dup
ENST00000579755.2:c.*101+92dup MANE Plus Clinical ENSP00000462950.1:n.*101+92dup
ENST00000304494.9:c.457+92dup ENSP00000307101.5:n.457+92dup
ENST00000361570.4:c.499+92dup ENSP00000355153.4:n.499+92dup
ENST00000380150.2:n.431+92dup
ENST00000380151.3:c.731+92dup ENSP00000369496.3:n.731+92dup
ENST00000404796.2:c.348-58622dup ENSP00000385916.2:n.348-58622dup
ENST00000479692.2:c.304+92dup ENSP00000466887.1:n.304+92dup
ENST00000494262.5:c.304+92dup ENSP00000464952.1:n.304+92dup
ENST00000497750.1:c.*81dup ENSP00000468510.1:n.*81dup
ENST00000498124.1:c.457+92dup ENSP00000418915.1:n.457+92dup
ENST00000498628.6:c.304+92dup ENSP00000467857.1:n.304+92dup
ENST00000530628.2:c.*27+166dup ENSP00000432664.2:n.*27+166dup
ENST00000578845.2:c.304+92dup ENSP00000467390.1:n.304+92dup
ENST00000579122.1:c.383+166dup ENSP00000464202.1:n.383+166dup
ENST00000579755.1:c.*101+92dup ENSP00000462950.1:n.*101+92dup
NM_000077.4:c.457+92dup , LRG_11t1:c.457+92dup NP_000068.1:n.457+92dup
NM_001195132.1:c.457+92dup NP_001182061.1:n.457+92dup
NM_058195.3:c.*101+92dup , LRG_11t2:c.*101+92dup NP_478102.2:n.*101+92dup
NM_058197.4:c.731+92dup NP_478104.2:n.731+92dup
XM_005251343.1:c.304+92dup XP_005251400.1:n.304+92dup
XM_011517675.1:c.457+92dup XP_011515977.1:n.457+92dup
XM_011517676.1:c.457+92dup XP_011515978.1:n.457+92dup
XM_011517679.1:c.304+92dup XP_011515981.1:n.304+92dup
XR_929159.1:n.858+92dup
XR_929161.1:n.647+92dup
XR_929162.1:n.647+92dup
XR_929163.1:n.596+92dup
XR_929164.1:n.379+92dup
NM_001363763.1:c.304+92dup NP_001350692.1:n.304+92dup
XM_011517675.2:c.457+92dup XP_011515977.1:n.457+92dup
XM_011517676.2:c.457+92dup XP_011515978.1:n.457+92dup
XR_929159.2:n.787+92dup
NM_001363763.2:c.304+92dup NP_001350692.1:n.304+92dup
NM_000077.5:c.457+92dup MANE Select NP_000068.1:n.457+92dup
NM_001195132.2:c.457+92dup NP_001182061.1:n.457+92dup
NM_058195.4:c.*101+92dup MANE Plus Clinical NP_478102.2:n.*101+92dup
NM_058197.5:c.*380+92dup NP_478104.2:n.*380+92dup