Canonical Allele Identifier: CA2689596771
Gene: CDKN2A HGNC NCBI

Linked Data

gnomAD v4: 9-21967962-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21967962A>G , CM000671.2:g.21967962A>G GRCh38
NC_000009.11:g.21967961A>G , CM000671.1:g.21967961A>G GRCh37
NC_000009.10:g.21957961A>G NCBI36
NG_007485.1:g.31530T>C , LRG_11:g.31530T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*267T>C MANE Select ENSP00000307101.5:n.*267T>C
ENST00000404796.3:c.348-61471A>G ENSP00000385916.2:n.348-61471A>G
ENST00000579755.2:c.*382T>C MANE Plus Clinical ENSP00000462950.1:n.*382T>C
ENST00000304494.9:c.*267T>C ENSP00000307101.5:n.*267T>C
ENST00000361570.4:c.*267T>C ENSP00000355153.4:n.*267T>C
ENST00000404796.2:c.348-61471A>G ENSP00000385916.2:n.348-61471A>G
ENST00000579755.1:c.*382T>C ENSP00000462950.1:n.*382T>C
NM_000077.4:c.*267T>C , LRG_11t1:c.*267T>C NP_000068.1:n.*267T>C
NM_001195132.1:c.*431T>C NP_001182061.1:n.*431T>C
NM_058195.3:c.*382T>C , LRG_11t2:c.*382T>C NP_478102.2:n.*382T>C
NM_058197.4:c.1012T>C NP_478104.2:n.1012T>C
XM_005251343.1:c.*267T>C XP_005251400.1:n.*267T>C
XM_011517679.1:c.*267T>C XP_011515981.1:n.*267T>C
NM_001363763.1:c.*267T>C NP_001350692.1:n.*267T>C
NM_001363763.2:c.*267T>C NP_001350692.1:n.*267T>C
NM_000077.5:c.*267T>C MANE Select NP_000068.1:n.*267T>C
NM_001195132.2:c.*431T>C NP_001182061.1:n.*431T>C
NM_058195.4:c.*382T>C MANE Plus Clinical NP_478102.2:n.*382T>C
NM_058197.5:c.*661T>C NP_478104.2:n.*661T>C