Canonical Allele Identifier: CA299049
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 182420
dbSNP Id: rs730881680

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970925A>G , CM000671.2:g.21970925A>G GRCh38
NC_000009.11:g.21970924A>G , CM000671.1:g.21970924A>G GRCh37
NC_000009.10:g.21960924A>G NCBI36
NG_007485.1:g.28567T>C , LRG_11:g.28567T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.434T>C MANE Select ENSP00000307101.5:p.Ile145Thr
ENST00000404796.3:c.348-58508A>G ENSP00000385916.2:p.=
ENST00000579755.2:c.*78T>C MANE Plus Clinical ENSP00000462950.1:p.=
ENST00000304494.9:c.434T>C ENSP00000307101.5:p.Ile145Thr
ENST00000361570.4:c.476T>C ENSP00000355153.4:p.Ile159Thr
ENST00000380150.2:n.408T>C
ENST00000380151.3:n.708T>C ENSP00000369496.3:p.=
ENST00000404796.2:c.348-58508A>G ENSP00000385916.2:p.=
ENST00000479692.2:c.281T>C ENSP00000466887.1:p.Ile94Thr
ENST00000494262.5:c.281T>C ENSP00000464952.1:p.Ile94Thr
ENST00000497750.1:c.281T>C ENSP00000468510.1:p.Ile94Thr
ENST00000498124.1:c.434T>C ENSP00000418915.1:p.Ile145Thr
ENST00000498628.6:c.281T>C ENSP00000467857.1:p.Ile94Thr
ENST00000530628.2:c.*27+51T>C ENSP00000432664.2:p.=
ENST00000578845.2:c.281T>C ENSP00000467390.1:p.Ile94Thr
ENST00000579122.1:c.383+51T>C ENSP00000464202.1:p.=
ENST00000579755.1:c.*78T>C ENSP00000462950.1:p.=
NM_000077.4:c.434T>C , LRG_11t1:c.434T>C NP_000068.1:p.Ile145Thr
NM_001195132.1:c.434T>C NP_001182061.1:p.Ile145Thr
NM_058195.3:c.*78T>C , LRG_11t2:c.*78T>C NP_478102.2:p.=
NM_058197.4:n.708T>C NP_478104.2:p.=
XM_005251343.1:c.281T>C XP_005251400.1:p.Ile94Thr
XM_011517675.1:c.434T>C XP_011515977.1:p.Ile145Thr
XM_011517676.1:c.434T>C XP_011515978.1:p.Ile145Thr
XM_011517679.1:c.281T>C XP_011515981.1:p.Ile94Thr
XR_929159.1:n.835T>C
XR_929161.1:n.624T>C
XR_929162.1:n.624T>C
XR_929163.1:n.573T>C
XR_929164.1:n.356T>C
NM_001363763.1:c.281T>C NP_001350692.1:p.Ile94Thr
XM_011517675.2:c.434T>C XP_011515977.1:p.Ile145Thr
XM_011517676.2:c.434T>C XP_011515978.1:p.Ile145Thr
XR_929159.2:n.764T>C
NM_001363763.2:c.281T>C NP_001350692.1:p.Ile94Thr
NM_000077.5:c.434T>C MANE Select NP_000068.1:p.Ile145Thr
NM_001195132.2:c.434T>C NP_001182061.1:p.Ile145Thr
NM_058195.4:c.*78T>C MANE Plus Clinical NP_478102.2:p.=
NM_058197.5:c.*357T>C NP_478104.2:p.=