Canonical Allele Identifier: CA2689597040
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs2131079136
gnomAD v4: 9-21968192-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968192A>G , CM000671.2:g.21968192A>G GRCh38
NC_000009.11:g.21968191A>G , CM000671.1:g.21968191A>G GRCh37
NC_000009.10:g.21958191A>G NCBI36
NG_007485.1:g.31300T>C , LRG_11:g.31300T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*37T>C MANE Select ENSP00000307101.5:n.*37T>C
ENST00000404796.3:c.348-61241A>G ENSP00000385916.2:n.348-61241A>G
ENST00000579755.2:c.*152T>C MANE Plus Clinical ENSP00000462950.1:n.*152T>C
ENST00000304494.9:c.*37T>C ENSP00000307101.5:n.*37T>C
ENST00000361570.4:c.*37T>C ENSP00000355153.4:n.*37T>C
ENST00000380151.3:c.782T>C ENSP00000369496.3:n.782T>C
ENST00000404796.2:c.348-61241A>G ENSP00000385916.2:n.348-61241A>G
ENST00000494262.5:c.*37T>C ENSP00000464952.1:n.*37T>C
ENST00000498124.1:c.*201T>C ENSP00000418915.1:n.*201T>C
ENST00000498628.6:c.*37T>C ENSP00000467857.1:n.*37T>C
ENST00000530628.2:c.*78T>C ENSP00000432664.2:n.*78T>C
ENST00000578845.2:c.*37T>C ENSP00000467390.1:n.*37T>C
ENST00000579122.1:c.*17T>C ENSP00000464202.1:n.*17T>C
ENST00000579755.1:c.*152T>C ENSP00000462950.1:n.*152T>C
NM_000077.4:c.*37T>C , LRG_11t1:c.*37T>C NP_000068.1:n.*37T>C
NM_001195132.1:c.*201T>C NP_001182061.1:n.*201T>C
NM_058195.3:c.*152T>C , LRG_11t2:c.*152T>C NP_478102.2:n.*152T>C
NM_058197.4:c.782T>C NP_478104.2:n.782T>C
XM_005251343.1:c.*37T>C XP_005251400.1:n.*37T>C
XM_011517679.1:c.*37T>C XP_011515981.1:n.*37T>C
NM_001363763.1:c.*37T>C NP_001350692.1:n.*37T>C
NM_001363763.2:c.*37T>C NP_001350692.1:n.*37T>C
NM_000077.5:c.*37T>C MANE Select NP_000068.1:n.*37T>C
NM_001195132.2:c.*201T>C NP_001182061.1:n.*201T>C
NM_058195.4:c.*152T>C MANE Plus Clinical NP_478102.2:n.*152T>C
NM_058197.5:c.*431T>C NP_478104.2:n.*431T>C