Canonical Allele Identifier: CA2689596782
Gene: CDKN2A HGNC NCBI

Linked Data

gnomAD v4: 9-21967969-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21967969C>A , CM000671.2:g.21967969C>A GRCh38
NC_000009.11:g.21967968C>A , CM000671.1:g.21967968C>A GRCh37
NC_000009.10:g.21957968C>A NCBI36
NG_007485.1:g.31523G>T , LRG_11:g.31523G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*260G>T MANE Select ENSP00000307101.5:n.*260G>T
ENST00000404796.3:c.348-61464C>A ENSP00000385916.2:n.348-61464C>A
ENST00000579755.2:c.*375G>T MANE Plus Clinical ENSP00000462950.1:n.*375G>T
ENST00000304494.9:c.*260G>T ENSP00000307101.5:n.*260G>T
ENST00000361570.4:c.*260G>T ENSP00000355153.4:n.*260G>T
ENST00000404796.2:c.348-61464C>A ENSP00000385916.2:n.348-61464C>A
ENST00000579755.1:c.*375G>T ENSP00000462950.1:n.*375G>T
NM_000077.4:c.*260G>T , LRG_11t1:c.*260G>T NP_000068.1:n.*260G>T
NM_001195132.1:c.*424G>T NP_001182061.1:n.*424G>T
NM_058195.3:c.*375G>T , LRG_11t2:c.*375G>T NP_478102.2:n.*375G>T
NM_058197.4:c.1005G>T NP_478104.2:n.1005G>T
XM_005251343.1:c.*260G>T XP_005251400.1:n.*260G>T
XM_011517679.1:c.*260G>T XP_011515981.1:n.*260G>T
NM_001363763.1:c.*260G>T NP_001350692.1:n.*260G>T
NM_001363763.2:c.*260G>T NP_001350692.1:n.*260G>T
NM_000077.5:c.*260G>T MANE Select NP_000068.1:n.*260G>T
NM_001195132.2:c.*424G>T NP_001182061.1:n.*424G>T
NM_058195.4:c.*375G>T MANE Plus Clinical NP_478102.2:n.*375G>T
NM_058197.5:c.*654G>T NP_478104.2:n.*654G>T