Canonical Allele Identifier: CA2689596972
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs2131078840
gnomAD v4: 9-21968152-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968152G>A , CM000671.2:g.21968152G>A GRCh38
NC_000009.11:g.21968151G>A , CM000671.1:g.21968151G>A GRCh37
NC_000009.10:g.21958151G>A NCBI36
NG_007485.1:g.31340C>T , LRG_11:g.31340C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*77C>T MANE Select ENSP00000307101.5:n.*77C>T
ENST00000404796.3:c.348-61281G>A ENSP00000385916.2:n.348-61281G>A
ENST00000579755.2:c.*192C>T MANE Plus Clinical ENSP00000462950.1:n.*192C>T
ENST00000304494.9:c.*77C>T ENSP00000307101.5:n.*77C>T
ENST00000361570.4:c.*77C>T ENSP00000355153.4:n.*77C>T
ENST00000404796.2:c.348-61281G>A ENSP00000385916.2:n.348-61281G>A
ENST00000498124.1:c.*241C>T ENSP00000418915.1:n.*241C>T
ENST00000498628.6:c.*77C>T ENSP00000467857.1:n.*77C>T
ENST00000530628.2:c.*118C>T ENSP00000432664.2:n.*118C>T
ENST00000578845.2:c.*77C>T ENSP00000467390.1:n.*77C>T
ENST00000579122.1:c.*57C>T ENSP00000464202.1:n.*57C>T
ENST00000579755.1:c.*192C>T ENSP00000462950.1:n.*192C>T
NM_000077.4:c.*77C>T , LRG_11t1:c.*77C>T NP_000068.1:n.*77C>T
NM_001195132.1:c.*241C>T NP_001182061.1:n.*241C>T
NM_058195.3:c.*192C>T , LRG_11t2:c.*192C>T NP_478102.2:n.*192C>T
NM_058197.4:c.822C>T NP_478104.2:n.822C>T
XM_005251343.1:c.*77C>T XP_005251400.1:n.*77C>T
XM_011517679.1:c.*77C>T XP_011515981.1:n.*77C>T
NM_001363763.1:c.*77C>T NP_001350692.1:n.*77C>T
NM_001363763.2:c.*77C>T NP_001350692.1:n.*77C>T
NM_000077.5:c.*77C>T MANE Select NP_000068.1:n.*77C>T
NM_001195132.2:c.*241C>T NP_001182061.1:n.*241C>T
NM_058195.4:c.*192C>T MANE Plus Clinical NP_478102.2:n.*192C>T
NM_058197.5:c.*471C>T NP_478104.2:n.*471C>T