Canonical Allele Identifier: CA16605506
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 385300
dbSNP Id: rs763795863
gnomAD v2: 9-21968220-T-C
gnomAD v4: 9-21968221-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968221T>C , CM000671.2:g.21968221T>C GRCh38
NC_000009.11:g.21968220T>C , CM000671.1:g.21968220T>C GRCh37
NC_000009.10:g.21958220T>C NCBI36
NG_007485.1:g.31271A>G , LRG_11:g.31271A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*8A>G MANE Select ENSP00000307101.5:n.*8A>G
ENST00000404796.3:c.348-61212T>C ENSP00000385916.2:n.348-61212T>C
ENST00000579755.2:c.*123A>G MANE Plus Clinical ENSP00000462950.1:n.*123A>G
ENST00000304494.9:c.*8A>G ENSP00000307101.5:n.*8A>G
ENST00000361570.4:c.*8A>G ENSP00000355153.4:n.*8A>G
ENST00000380151.3:c.753A>G ENSP00000369496.3:n.753A>G
ENST00000404796.2:c.348-61212T>C ENSP00000385916.2:n.348-61212T>C
ENST00000494262.5:c.*8A>G ENSP00000464952.1:n.*8A>G
ENST00000498124.1:c.*172A>G ENSP00000418915.1:n.*172A>G
ENST00000498628.6:c.*8A>G ENSP00000467857.1:n.*8A>G
ENST00000530628.2:c.*49A>G ENSP00000432664.2:n.*49A>G
ENST00000578845.2:c.*8A>G ENSP00000467390.1:n.*8A>G
ENST00000579122.1:c.405A>G ENSP00000464202.1:p.Pro135=
ENST00000579755.1:c.*123A>G ENSP00000462950.1:n.*123A>G
NM_000077.4:c.*8A>G , LRG_11t1:c.*8A>G NP_000068.1:n.*8A>G
NM_001195132.1:c.*172A>G NP_001182061.1:n.*172A>G
NM_058195.3:c.*123A>G , LRG_11t2:c.*123A>G NP_478102.2:n.*123A>G
NM_058197.4:c.753A>G NP_478104.2:n.753A>G
XM_005251343.1:c.*8A>G XP_005251400.1:n.*8A>G
XM_011517679.1:c.*8A>G XP_011515981.1:n.*8A>G
NM_001363763.1:c.*8A>G NP_001350692.1:n.*8A>G
NM_001363763.2:c.*8A>G NP_001350692.1:n.*8A>G
NM_000077.5:c.*8A>G MANE Select NP_000068.1:n.*8A>G
NM_001195132.2:c.*172A>G NP_001182061.1:n.*172A>G
NM_058195.4:c.*123A>G MANE Plus Clinical NP_478102.2:n.*123A>G
NM_058197.5:c.*402A>G NP_478104.2:n.*402A>G