Canonical Allele Identifier: CA586896170
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs11515
gnomAD v2: 9-21968199-C-A
gnomAD v4: 9-21968200-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968200C>A , CM000671.2:g.21968200C>A GRCh38
NC_000009.11:g.21968199C>A , CM000671.1:g.21968199C>A GRCh37
NC_000009.10:g.21958199C>A NCBI36
NG_007485.1:g.31292G>T , LRG_11:g.31292G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.*29G>T MANE Select ENSP00000307101.5:n.*29G>T
ENST00000404796.3:c.348-61233C>A ENSP00000385916.2:n.348-61233C>A
ENST00000579755.2:c.*144G>T MANE Plus Clinical ENSP00000462950.1:n.*144G>T
ENST00000304494.9:c.*29G>T ENSP00000307101.5:n.*29G>T
ENST00000361570.4:c.*29G>T ENSP00000355153.4:n.*29G>T
ENST00000380151.3:c.774G>T ENSP00000369496.3:n.774G>T
ENST00000404796.2:c.348-61233C>A ENSP00000385916.2:n.348-61233C>A
ENST00000494262.5:c.*29G>T ENSP00000464952.1:n.*29G>T
ENST00000498124.1:c.*193G>T ENSP00000418915.1:n.*193G>T
ENST00000498628.6:c.*29G>T ENSP00000467857.1:n.*29G>T
ENST00000530628.2:c.*70G>T ENSP00000432664.2:n.*70G>T
ENST00000578845.2:c.*29G>T ENSP00000467390.1:n.*29G>T
ENST00000579122.1:c.*9G>T ENSP00000464202.1:n.*9G>T
ENST00000579755.1:c.*144G>T ENSP00000462950.1:n.*144G>T
NM_000077.4:c.*29G>T , LRG_11t1:c.*29G>T NP_000068.1:n.*29G>T
NM_001195132.1:c.*193G>T NP_001182061.1:n.*193G>T
NM_058195.3:c.*144G>T , LRG_11t2:c.*144G>T NP_478102.2:n.*144G>T
NM_058197.4:c.774G>T NP_478104.2:n.774G>T
XM_005251343.1:c.*29G>T XP_005251400.1:n.*29G>T
XM_011517679.1:c.*29G>T XP_011515981.1:n.*29G>T
NM_001363763.1:c.*29G>T NP_001350692.1:n.*29G>T
NM_001363763.2:c.*29G>T NP_001350692.1:n.*29G>T
NM_000077.5:c.*29G>T MANE Select NP_000068.1:n.*29G>T
NM_001195132.2:c.*193G>T NP_001182061.1:n.*193G>T
NM_058195.4:c.*144G>T MANE Plus Clinical NP_478102.2:n.*144G>T
NM_058197.5:c.*423G>T NP_478104.2:n.*423G>T