Canonical Allele Identifier: CA1839161530
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971060G= , CM000671.2:g.21971060G= GRCh38
NC_000009.11:g.21971059G= , CM000671.1:g.21971059G= GRCh37
NC_000009.10:g.21961059G= NCBI36
NG_007485.1:g.28432C= , LRG_11:g.28432C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.299C= MANE Select ENSP00000307101.5:p.Ala100=
ENST00000404796.3:c.348-58373G= ENSP00000385916.2:n.348-58373G=
ENST00000579755.2:c.342C= MANE Plus Clinical ENSP00000462950.1:p.Gly114=
ENST00000304494.9:c.299C= ENSP00000307101.5:p.Ala100=
ENST00000361570.4:c.341C= ENSP00000355153.4:p.Ala114=
ENST00000380150.2:n.273C=
ENST00000380151.3:c.573C= ENSP00000369496.3:n.573C=
ENST00000404796.2:c.348-58373G= ENSP00000385916.2:n.348-58373G=
ENST00000479692.2:c.146C= ENSP00000466887.1:p.Ala49=
ENST00000494262.5:c.146C= ENSP00000464952.1:p.Ala49=
ENST00000497750.1:c.146C= ENSP00000468510.1:p.Ala49=
ENST00000498124.1:c.299C= ENSP00000418915.1:p.Ala100=
ENST00000498628.6:c.146C= ENSP00000467857.1:p.Ala49=
ENST00000530628.2:c.342C= ENSP00000432664.2:p.Gly114=
ENST00000578845.2:c.146C= ENSP00000467390.1:p.Ala49=
ENST00000579122.1:c.299C= ENSP00000464202.1:p.Ala100=
ENST00000579755.1:c.342C= ENSP00000462950.1:p.Gly114=
NM_000077.4:c.299C= , LRG_11t1:c.299C= NP_000068.1:p.Ala100=
NM_001195132.1:c.299C= NP_001182061.1:p.Ala100=
NM_058195.3:c.342C= , LRG_11t2:c.342C= NP_478102.2:p.Gly114=
NM_058197.4:c.573C= NP_478104.2:n.573C=
XM_005251343.1:c.146C= XP_005251400.1:p.Ala49=
XM_011517675.1:c.299C= XP_011515977.1:p.Ala100=
XM_011517676.1:c.299C= XP_011515978.1:p.Ala100=
XM_011517679.1:c.146C= XP_011515981.1:p.Ala49=
XR_929159.1:n.700C=
XR_929161.1:n.489C=
XR_929162.1:n.489C=
XR_929163.1:n.438C=
XR_929164.1:n.221C=
NM_001363763.1:c.146C= NP_001350692.1:p.Ala49=
XM_011517675.2:c.299C= XP_011515977.1:p.Ala100=
XM_011517676.2:c.299C= XP_011515978.1:p.Ala100=
XR_929159.2:n.629C=
NM_001363763.2:c.146C= NP_001350692.1:p.Ala49=
NM_000077.5:c.299C= MANE Select NP_000068.1:p.Ala100=
NM_001195132.2:c.299C= NP_001182061.1:p.Ala100=
NM_058195.4:c.342C= MANE Plus Clinical NP_478102.2:p.Gly114=
NM_058197.5:c.*222C= NP_478104.2:n.*222C=