Canonical Allele Identifier: CA373086191
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs2131094698

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.268T>A MANE Select ENSP00000307101.5:p.Phe90Ile
ENST00000404796.3:c.348-58342A>T ENSP00000385916.2:n.348-58342A>T
ENST00000579755.2:c.311T>A MANE Plus Clinical ENSP00000462950.1:p.Leu104His
ENST00000304494.9:c.268T>A ENSP00000307101.5:p.Phe90Ile
ENST00000361570.4:c.310T>A ENSP00000355153.4:p.Phe104Ile
ENST00000380150.2:n.242T>A
ENST00000380151.3:c.542T>A ENSP00000369496.3:n.542T>A
ENST00000404796.2:c.348-58342A>T ENSP00000385916.2:n.348-58342A>T
ENST00000479692.2:c.115T>A ENSP00000466887.1:p.Phe39Ile
ENST00000494262.5:c.115T>A ENSP00000464952.1:p.Phe39Ile
ENST00000497750.1:c.115T>A ENSP00000468510.1:p.Phe39Ile
ENST00000498124.1:c.268T>A ENSP00000418915.1:p.Phe90Ile
ENST00000498628.6:c.115T>A ENSP00000467857.1:p.Phe39Ile
ENST00000530628.2:c.311T>A ENSP00000432664.2:p.Leu104His
ENST00000578845.2:c.115T>A ENSP00000467390.1:p.Phe39Ile
ENST00000579122.1:c.268T>A ENSP00000464202.1:p.Phe90Ile
ENST00000579755.1:c.311T>A ENSP00000462950.1:p.Leu104His
NM_000077.4:c.268T>A , LRG_11t1:c.268T>A NP_000068.1:p.Phe90Ile
NM_001195132.1:c.268T>A NP_001182061.1:p.Phe90Ile
NM_058195.3:c.311T>A , LRG_11t2:c.311T>A NP_478102.2:p.Leu104His
NM_058197.4:c.542T>A NP_478104.2:n.542T>A
XM_005251343.1:c.115T>A XP_005251400.1:p.Phe39Ile
XM_011517675.1:c.268T>A XP_011515977.1:p.Phe90Ile
XM_011517676.1:c.268T>A XP_011515978.1:p.Phe90Ile
XM_011517679.1:c.115T>A XP_011515981.1:p.Phe39Ile
XR_929159.1:n.669T>A
XR_929161.1:n.458T>A
XR_929162.1:n.458T>A
XR_929163.1:n.407T>A
XR_929164.1:n.190T>A
NM_001363763.1:c.115T>A NP_001350692.1:p.Phe39Ile
XM_011517675.2:c.268T>A XP_011515977.1:p.Phe90Ile
XM_011517676.2:c.268T>A XP_011515978.1:p.Phe90Ile
XR_929159.2:n.598T>A
NM_001363763.2:c.115T>A NP_001350692.1:p.Phe39Ile
NM_000077.5:c.268T>A MANE Select NP_000068.1:p.Phe90Ile
NM_001195132.2:c.268T>A NP_001182061.1:p.Phe90Ile
NM_058195.4:c.311T>A MANE Plus Clinical NP_478102.2:p.Leu104His
NM_058197.5:c.*191T>A NP_478104.2:n.*191T>A