Canonical Allele Identifier: CA373086189
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971091A>C , CM000671.2:g.21971091A>C GRCh38
NC_000009.11:g.21971090A>C , CM000671.1:g.21971090A>C GRCh37
NC_000009.10:g.21961090A>C NCBI36
NG_007485.1:g.28401T>G , LRG_11:g.28401T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.268T>G MANE Select ENSP00000307101.5:p.Phe90Val
ENST00000404796.3:c.348-58342A>C ENSP00000385916.2:n.348-58342A>C
ENST00000579755.2:c.311T>G MANE Plus Clinical ENSP00000462950.1:p.Leu104Arg
ENST00000304494.9:c.268T>G ENSP00000307101.5:p.Phe90Val
ENST00000361570.4:c.310T>G ENSP00000355153.4:p.Phe104Val
ENST00000380150.2:n.242T>G
ENST00000380151.3:c.542T>G ENSP00000369496.3:n.542T>G
ENST00000404796.2:c.348-58342A>C ENSP00000385916.2:n.348-58342A>C
ENST00000479692.2:c.115T>G ENSP00000466887.1:p.Phe39Val
ENST00000494262.5:c.115T>G ENSP00000464952.1:p.Phe39Val
ENST00000497750.1:c.115T>G ENSP00000468510.1:p.Phe39Val
ENST00000498124.1:c.268T>G ENSP00000418915.1:p.Phe90Val
ENST00000498628.6:c.115T>G ENSP00000467857.1:p.Phe39Val
ENST00000530628.2:c.311T>G ENSP00000432664.2:p.Leu104Arg
ENST00000578845.2:c.115T>G ENSP00000467390.1:p.Phe39Val
ENST00000579122.1:c.268T>G ENSP00000464202.1:p.Phe90Val
ENST00000579755.1:c.311T>G ENSP00000462950.1:p.Leu104Arg
NM_000077.4:c.268T>G , LRG_11t1:c.268T>G NP_000068.1:p.Phe90Val
NM_001195132.1:c.268T>G NP_001182061.1:p.Phe90Val
NM_058195.3:c.311T>G , LRG_11t2:c.311T>G NP_478102.2:p.Leu104Arg
NM_058197.4:c.542T>G NP_478104.2:n.542T>G
XM_005251343.1:c.115T>G XP_005251400.1:p.Phe39Val
XM_011517675.1:c.268T>G XP_011515977.1:p.Phe90Val
XM_011517676.1:c.268T>G XP_011515978.1:p.Phe90Val
XM_011517679.1:c.115T>G XP_011515981.1:p.Phe39Val
XR_929159.1:n.669T>G
XR_929161.1:n.458T>G
XR_929162.1:n.458T>G
XR_929163.1:n.407T>G
XR_929164.1:n.190T>G
NM_001363763.1:c.115T>G NP_001350692.1:p.Phe39Val
XM_011517675.2:c.268T>G XP_011515977.1:p.Phe90Val
XM_011517676.2:c.268T>G XP_011515978.1:p.Phe90Val
XR_929159.2:n.598T>G
NM_001363763.2:c.115T>G NP_001350692.1:p.Phe39Val
NM_000077.5:c.268T>G MANE Select NP_000068.1:p.Phe90Val
NM_001195132.2:c.268T>G NP_001182061.1:p.Phe90Val
NM_058195.4:c.311T>G MANE Plus Clinical NP_478102.2:p.Leu104Arg
NM_058197.5:c.*191T>G NP_478104.2:n.*191T>G