Canonical Allele Identifier: CA2689597064
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs2131079285
gnomAD v4: 9-21968215-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968215C>T , CM000671.2:g.21968215C>T GRCh38
NC_000009.11:g.21968214C>T , CM000671.1:g.21968214C>T GRCh37
NC_000009.10:g.21958214C>T NCBI36
NG_007485.1:g.31277G>A , LRG_11:g.31277G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.*14G>A MANE Select ENSP00000307101.5:n.*14G>A
ENST00000404796.3:c.348-61218C>T ENSP00000385916.2:n.348-61218C>T
ENST00000579755.2:c.*129G>A MANE Plus Clinical ENSP00000462950.1:n.*129G>A
ENST00000304494.9:c.*14G>A ENSP00000307101.5:n.*14G>A
ENST00000361570.4:c.*14G>A ENSP00000355153.4:n.*14G>A
ENST00000380151.3:c.759G>A ENSP00000369496.3:n.759G>A
ENST00000404796.2:c.348-61218C>T ENSP00000385916.2:n.348-61218C>T
ENST00000494262.5:c.*14G>A ENSP00000464952.1:n.*14G>A
ENST00000498124.1:c.*178G>A ENSP00000418915.1:n.*178G>A
ENST00000498628.6:c.*14G>A ENSP00000467857.1:n.*14G>A
ENST00000530628.2:c.*55G>A ENSP00000432664.2:n.*55G>A
ENST00000578845.2:c.*14G>A ENSP00000467390.1:n.*14G>A
ENST00000579122.1:c.411G>A ENSP00000464202.1:p.Arg137=
ENST00000579755.1:c.*129G>A ENSP00000462950.1:n.*129G>A
NM_000077.4:c.*14G>A , LRG_11t1:c.*14G>A NP_000068.1:n.*14G>A
NM_001195132.1:c.*178G>A NP_001182061.1:n.*178G>A
NM_058195.3:c.*129G>A , LRG_11t2:c.*129G>A NP_478102.2:n.*129G>A
NM_058197.4:c.759G>A NP_478104.2:n.759G>A
XM_005251343.1:c.*14G>A XP_005251400.1:n.*14G>A
XM_011517679.1:c.*14G>A XP_011515981.1:n.*14G>A
NM_001363763.1:c.*14G>A NP_001350692.1:n.*14G>A
NM_001363763.2:c.*14G>A NP_001350692.1:n.*14G>A
NM_000077.5:c.*14G>A MANE Select NP_000068.1:n.*14G>A
NM_001195132.2:c.*178G>A NP_001182061.1:n.*178G>A
NM_058195.4:c.*129G>A MANE Plus Clinical NP_478102.2:n.*129G>A
NM_058197.5:c.*408G>A NP_478104.2:n.*408G>A