Canonical Allele Identifier: CA373085833
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs876659307

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21970916G>T , CM000671.2:g.21970916G>T GRCh38
NC_000009.11:g.21970915G>T , CM000671.1:g.21970915G>T GRCh37
NC_000009.10:g.21960915G>T NCBI36
NG_007485.1:g.28576C>A , LRG_11:g.28576C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.443C>A MANE Select ENSP00000307101.5:p.Ala148Glu
ENST00000404796.3:c.348-58517G>T ENSP00000385916.2:n.348-58517G>T
ENST00000579755.2:c.*87C>A MANE Plus Clinical ENSP00000462950.1:n.*87C>A
ENST00000304494.9:c.443C>A ENSP00000307101.5:p.Ala148Glu
ENST00000361570.4:c.485C>A ENSP00000355153.4:p.Ala162Glu
ENST00000380150.2:n.417C>A
ENST00000380151.3:c.717C>A ENSP00000369496.3:n.717C>A
ENST00000404796.2:c.348-58517G>T ENSP00000385916.2:n.348-58517G>T
ENST00000479692.2:c.290C>A ENSP00000466887.1:p.Ala97Glu
ENST00000494262.5:c.290C>A ENSP00000464952.1:p.Ala97Glu
ENST00000497750.1:c.290C>A ENSP00000468510.1:p.Ala97Glu
ENST00000498124.1:c.443C>A ENSP00000418915.1:p.Ala148Glu
ENST00000498628.6:c.290C>A ENSP00000467857.1:p.Ala97Glu
ENST00000530628.2:c.*27+60C>A ENSP00000432664.2:n.*27+60C>A
ENST00000578845.2:c.290C>A ENSP00000467390.1:p.Ala97Glu
ENST00000579122.1:c.383+60C>A ENSP00000464202.1:n.383+60C>A
ENST00000579755.1:c.*87C>A ENSP00000462950.1:n.*87C>A
NM_000077.4:c.443C>A , LRG_11t1:c.443C>A NP_000068.1:p.Ala148Glu
NM_001195132.1:c.443C>A NP_001182061.1:p.Ala148Glu
NM_058195.3:c.*87C>A , LRG_11t2:c.*87C>A NP_478102.2:n.*87C>A
NM_058197.4:c.717C>A NP_478104.2:n.717C>A
XM_005251343.1:c.290C>A XP_005251400.1:p.Ala97Glu
XM_011517675.1:c.443C>A XP_011515977.1:p.Ala148Glu
XM_011517676.1:c.443C>A XP_011515978.1:p.Ala148Glu
XM_011517679.1:c.290C>A XP_011515981.1:p.Ala97Glu
XR_929159.1:n.844C>A
XR_929161.1:n.633C>A
XR_929162.1:n.633C>A
XR_929163.1:n.582C>A
XR_929164.1:n.365C>A
NM_001363763.1:c.290C>A NP_001350692.1:p.Ala97Glu
XM_011517675.2:c.443C>A XP_011515977.1:p.Ala148Glu
XM_011517676.2:c.443C>A XP_011515978.1:p.Ala148Glu
XR_929159.2:n.773C>A
NM_001363763.2:c.290C>A NP_001350692.1:p.Ala97Glu
NM_000077.5:c.443C>A MANE Select NP_000068.1:p.Ala148Glu
NM_001195132.2:c.443C>A NP_001182061.1:p.Ala148Glu
NM_058195.4:c.*87C>A MANE Plus Clinical NP_478102.2:n.*87C>A
NM_058197.5:c.*366C>A NP_478104.2:n.*366C>A