Canonical Allele Identifier: CA2579316288
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs2131078806
gnomAD v4: 9-21968148-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968148G>T , CM000671.2:g.21968148G>T GRCh38
NC_000009.11:g.21968147G>T , CM000671.1:g.21968147G>T GRCh37
NC_000009.10:g.21958147G>T NCBI36
NG_007485.1:g.31344C>A , LRG_11:g.31344C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*81C>A MANE Select ENSP00000307101.5:n.*81C>A
ENST00000404796.3:c.348-61285G>T ENSP00000385916.2:n.348-61285G>T
ENST00000579755.2:c.*196C>A MANE Plus Clinical ENSP00000462950.1:n.*196C>A
ENST00000304494.9:c.*81C>A ENSP00000307101.5:n.*81C>A
ENST00000361570.4:c.*81C>A ENSP00000355153.4:n.*81C>A
ENST00000404796.2:c.348-61285G>T ENSP00000385916.2:n.348-61285G>T
ENST00000498124.1:c.*245C>A ENSP00000418915.1:n.*245C>A
ENST00000498628.6:c.*81C>A ENSP00000467857.1:n.*81C>A
ENST00000530628.2:c.*122C>A ENSP00000432664.2:n.*122C>A
ENST00000578845.2:c.*81C>A ENSP00000467390.1:n.*81C>A
ENST00000579122.1:c.*61C>A ENSP00000464202.1:n.*61C>A
ENST00000579755.1:c.*196C>A ENSP00000462950.1:n.*196C>A
NM_000077.4:c.*81C>A , LRG_11t1:c.*81C>A NP_000068.1:n.*81C>A
NM_001195132.1:c.*245C>A NP_001182061.1:n.*245C>A
NM_058195.3:c.*196C>A , LRG_11t2:c.*196C>A NP_478102.2:n.*196C>A
NM_058197.4:c.826C>A NP_478104.2:n.826C>A
XM_005251343.1:c.*81C>A XP_005251400.1:n.*81C>A
XM_011517679.1:c.*81C>A XP_011515981.1:n.*81C>A
NM_001363763.1:c.*81C>A NP_001350692.1:n.*81C>A
NM_001363763.2:c.*81C>A NP_001350692.1:n.*81C>A
NM_000077.5:c.*81C>A MANE Select NP_000068.1:n.*81C>A
NM_001195132.2:c.*245C>A NP_001182061.1:n.*245C>A
NM_058195.4:c.*196C>A MANE Plus Clinical NP_478102.2:n.*196C>A
NM_058197.5:c.*475C>A NP_478104.2:n.*475C>A