Canonical Allele Identifier: CA1839161204
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971020C= , CM000671.2:g.21971020C= GRCh38
NC_000009.11:g.21971019C= , CM000671.1:g.21971019C= GRCh37
NC_000009.10:g.21961019C= NCBI36
NG_007485.1:g.28472G= , LRG_11:g.28472G=

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.339G= MANE Select ENSP00000307101.5:p.Leu113=
ENST00000404796.3:c.348-58413C= ENSP00000385916.2:n.348-58413C=
ENST00000579755.2:c.382G= MANE Plus Clinical ENSP00000462950.1:p.Ala128=
ENST00000304494.9:c.339G= ENSP00000307101.5:p.Leu113=
ENST00000361570.4:c.381G= ENSP00000355153.4:p.Leu127=
ENST00000380150.2:n.313G=
ENST00000380151.3:c.613G= ENSP00000369496.3:n.613G=
ENST00000404796.2:c.348-58413C= ENSP00000385916.2:n.348-58413C=
ENST00000479692.2:c.186G= ENSP00000466887.1:p.Leu62=
ENST00000494262.5:c.186G= ENSP00000464952.1:p.Leu62=
ENST00000497750.1:c.186G= ENSP00000468510.1:p.Leu62=
ENST00000498124.1:c.339G= ENSP00000418915.1:p.Leu113=
ENST00000498628.6:c.186G= ENSP00000467857.1:p.Leu62=
ENST00000530628.2:c.382G= ENSP00000432664.2:p.Ala128=
ENST00000578845.2:c.186G= ENSP00000467390.1:p.Leu62=
ENST00000579122.1:c.339G= ENSP00000464202.1:p.Leu113=
ENST00000579755.1:c.382G= ENSP00000462950.1:p.Ala128=
NM_000077.4:c.339G= , LRG_11t1:c.339G= NP_000068.1:p.Leu113=
NM_001195132.1:c.339G= NP_001182061.1:p.Leu113=
NM_058195.3:c.382G= , LRG_11t2:c.382G= NP_478102.2:p.Ala128=
NM_058197.4:c.613G= NP_478104.2:n.613G=
XM_005251343.1:c.186G= XP_005251400.1:p.Leu62=
XM_011517675.1:c.339G= XP_011515977.1:p.Leu113=
XM_011517676.1:c.339G= XP_011515978.1:p.Leu113=
XM_011517679.1:c.186G= XP_011515981.1:p.Leu62=
XR_929159.1:n.740G=
XR_929161.1:n.529G=
XR_929162.1:n.529G=
XR_929163.1:n.478G=
XR_929164.1:n.261G=
NM_001363763.1:c.186G= NP_001350692.1:p.Leu62=
XM_011517675.2:c.339G= XP_011515977.1:p.Leu113=
XM_011517676.2:c.339G= XP_011515978.1:p.Leu113=
XR_929159.2:n.669G=
NM_001363763.2:c.186G= NP_001350692.1:p.Leu62=
NM_000077.5:c.339G= MANE Select NP_000068.1:p.Leu113=
NM_001195132.2:c.339G= NP_001182061.1:p.Leu113=
NM_058195.4:c.382G= MANE Plus Clinical NP_478102.2:p.Ala128=
NM_058197.5:c.*262G= NP_478104.2:n.*262G=