Canonical Allele Identifier: CA16612773
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 406715
dbSNP Id: rs1060501266
gnomAD v3: 9-21968347-T-C
gnomAD v4: 9-21968347-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968347T>C , CM000671.2:g.21968347T>C GRCh38
NC_000009.11:g.21968346T>C , CM000671.1:g.21968346T>C GRCh37
NC_000009.10:g.21958346T>C NCBI36
NG_007485.1:g.31145A>G , LRG_11:g.31145A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.458-105A>G MANE Select ENSP00000307101.5:n.458-105A>G
ENST00000404796.3:c.348-61086T>C ENSP00000385916.2:n.348-61086T>C
ENST00000579755.2:c.*102-105A>G MANE Plus Clinical ENSP00000462950.1:n.*102-105A>G
ENST00000304494.9:c.458-105A>G ENSP00000307101.5:n.458-105A>G
ENST00000361570.4:c.500-105A>G ENSP00000355153.4:n.500-105A>G
ENST00000380151.3:c.732-105A>G ENSP00000369496.3:n.732-105A>G
ENST00000404796.2:c.348-61086T>C ENSP00000385916.2:n.348-61086T>C
ENST00000494262.5:c.305-105A>G ENSP00000464952.1:n.305-105A>G
ENST00000498124.1:c.*151-105A>G ENSP00000418915.1:n.*151-105A>G
ENST00000498628.6:c.305-105A>G ENSP00000467857.1:n.305-105A>G
ENST00000530628.2:c.*28-105A>G ENSP00000432664.2:n.*28-105A>G
ENST00000578845.2:c.305-105A>G ENSP00000467390.1:n.305-105A>G
ENST00000579122.1:c.384-105A>G ENSP00000464202.1:n.384-105A>G
ENST00000579755.1:c.*102-105A>G ENSP00000462950.1:n.*102-105A>G
NM_000077.4:c.458-105A>G , LRG_11t1:c.458-105A>G NP_000068.1:n.458-105A>G
NM_001195132.1:c.*151-105A>G NP_001182061.1:n.*151-105A>G
NM_058195.3:c.*102-105A>G , LRG_11t2:c.*102-105A>G NP_478102.2:n.*102-105A>G
NM_058197.4:c.732-105A>G NP_478104.2:n.732-105A>G
XM_005251343.1:c.305-105A>G XP_005251400.1:n.305-105A>G
XM_011517679.1:c.305-105A>G XP_011515981.1:n.305-105A>G
NM_001363763.1:c.305-105A>G NP_001350692.1:n.305-105A>G
XM_011517676.2:c.*1385A>G XP_011515978.1:n.*1385A>G
XR_929159.2:n.2501A>G
NM_001363763.2:c.305-105A>G NP_001350692.1:n.305-105A>G
NM_000077.5:c.458-105A>G MANE Select NP_000068.1:n.458-105A>G
NM_001195132.2:c.*151-105A>G NP_001182061.1:n.*151-105A>G
NM_058195.4:c.*102-105A>G MANE Plus Clinical NP_478102.2:n.*102-105A>G
NM_058197.5:c.*381-105A>G NP_478104.2:n.*381-105A>G