Canonical Allele Identifier: CA2689597030
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs748322307
gnomAD v4: 9-21968185-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968185A>G , CM000671.2:g.21968185A>G GRCh38
NC_000009.11:g.21968184A>G , CM000671.1:g.21968184A>G GRCh37
NC_000009.10:g.21958184A>G NCBI36
NG_007485.1:g.31307T>C , LRG_11:g.31307T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*44T>C MANE Select ENSP00000307101.5:n.*44T>C
ENST00000404796.3:c.348-61248A>G ENSP00000385916.2:n.348-61248A>G
ENST00000579755.2:c.*159T>C MANE Plus Clinical ENSP00000462950.1:n.*159T>C
ENST00000304494.9:c.*44T>C ENSP00000307101.5:n.*44T>C
ENST00000361570.4:c.*44T>C ENSP00000355153.4:n.*44T>C
ENST00000380151.3:c.789T>C ENSP00000369496.3:n.789T>C
ENST00000404796.2:c.348-61248A>G ENSP00000385916.2:n.348-61248A>G
ENST00000494262.5:c.*44T>C ENSP00000464952.1:n.*44T>C
ENST00000498124.1:c.*208T>C ENSP00000418915.1:n.*208T>C
ENST00000498628.6:c.*44T>C ENSP00000467857.1:n.*44T>C
ENST00000530628.2:c.*85T>C ENSP00000432664.2:n.*85T>C
ENST00000578845.2:c.*44T>C ENSP00000467390.1:n.*44T>C
ENST00000579122.1:c.*24T>C ENSP00000464202.1:n.*24T>C
ENST00000579755.1:c.*159T>C ENSP00000462950.1:n.*159T>C
NM_000077.4:c.*44T>C , LRG_11t1:c.*44T>C NP_000068.1:n.*44T>C
NM_001195132.1:c.*208T>C NP_001182061.1:n.*208T>C
NM_058195.3:c.*159T>C , LRG_11t2:c.*159T>C NP_478102.2:n.*159T>C
NM_058197.4:c.789T>C NP_478104.2:n.789T>C
XM_005251343.1:c.*44T>C XP_005251400.1:n.*44T>C
XM_011517679.1:c.*44T>C XP_011515981.1:n.*44T>C
NM_001363763.1:c.*44T>C NP_001350692.1:n.*44T>C
NM_001363763.2:c.*44T>C NP_001350692.1:n.*44T>C
NM_000077.5:c.*44T>C MANE Select NP_000068.1:n.*44T>C
NM_001195132.2:c.*208T>C NP_001182061.1:n.*208T>C
NM_058195.4:c.*159T>C MANE Plus Clinical NP_478102.2:n.*159T>C
NM_058197.5:c.*438T>C NP_478104.2:n.*438T>C