Canonical Allele Identifier: CA862193454
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs1415627358
gnomAD v3: 9-21968013-A-T
gnomAD v4: 9-21968013-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968013A>T , CM000671.2:g.21968013A>T GRCh38
NC_000009.11:g.21968012A>T , CM000671.1:g.21968012A>T GRCh37
NC_000009.10:g.21958012A>T NCBI36
NG_007485.1:g.31479T>A , LRG_11:g.31479T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*216T>A MANE Select ENSP00000307101.5:n.*216T>A
ENST00000404796.3:c.348-61420A>T ENSP00000385916.2:n.348-61420A>T
ENST00000579755.2:c.*331T>A MANE Plus Clinical ENSP00000462950.1:n.*331T>A
ENST00000304494.9:c.*216T>A ENSP00000307101.5:n.*216T>A
ENST00000361570.4:c.*216T>A ENSP00000355153.4:n.*216T>A
ENST00000404796.2:c.348-61420A>T ENSP00000385916.2:n.348-61420A>T
ENST00000530628.2:c.*257T>A ENSP00000432664.2:n.*257T>A
ENST00000578845.2:c.*216T>A ENSP00000467390.1:n.*216T>A
ENST00000579122.1:c.*196T>A ENSP00000464202.1:n.*196T>A
ENST00000579755.1:c.*331T>A ENSP00000462950.1:n.*331T>A
NM_000077.4:c.*216T>A , LRG_11t1:c.*216T>A NP_000068.1:n.*216T>A
NM_001195132.1:c.*380T>A NP_001182061.1:n.*380T>A
NM_058195.3:c.*331T>A , LRG_11t2:c.*331T>A NP_478102.2:n.*331T>A
NM_058197.4:c.961T>A NP_478104.2:n.961T>A
XM_005251343.1:c.*216T>A XP_005251400.1:n.*216T>A
XM_011517679.1:c.*216T>A XP_011515981.1:n.*216T>A
NM_001363763.1:c.*216T>A NP_001350692.1:n.*216T>A
NM_001363763.2:c.*216T>A NP_001350692.1:n.*216T>A
NM_000077.5:c.*216T>A MANE Select NP_000068.1:n.*216T>A
NM_001195132.2:c.*380T>A NP_001182061.1:n.*380T>A
NM_058195.4:c.*331T>A MANE Plus Clinical NP_478102.2:n.*331T>A
NM_058197.5:c.*610T>A NP_478104.2:n.*610T>A