Canonical Allele Identifier: CA373085062
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968234C>G , CM000671.2:g.21968234C>G GRCh38
NC_000009.11:g.21968233C>G , CM000671.1:g.21968233C>G GRCh37
NC_000009.10:g.21958233C>G NCBI36
NG_007485.1:g.31258G>C , LRG_11:g.31258G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.466G>C MANE Select ENSP00000307101.5:p.Asp156His
ENST00000404796.3:c.348-61199C>G ENSP00000385916.2:n.348-61199C>G
ENST00000579755.2:c.*110G>C MANE Plus Clinical ENSP00000462950.1:n.*110G>C
ENST00000304494.9:c.466G>C ENSP00000307101.5:p.Asp156His
ENST00000361570.4:c.508G>C ENSP00000355153.4:p.Asp170His
ENST00000380151.3:c.740G>C ENSP00000369496.3:n.740G>C
ENST00000404796.2:c.348-61199C>G ENSP00000385916.2:n.348-61199C>G
ENST00000494262.5:c.313G>C ENSP00000464952.1:p.Asp105His
ENST00000498124.1:c.*159G>C ENSP00000418915.1:n.*159G>C
ENST00000498628.6:c.313G>C ENSP00000467857.1:p.Asp105His
ENST00000530628.2:c.*36G>C ENSP00000432664.2:n.*36G>C
ENST00000578845.2:c.313G>C ENSP00000467390.1:p.Asp105His
ENST00000579122.1:c.392G>C ENSP00000464202.1:p.Arg131Pro
ENST00000579755.1:c.*110G>C ENSP00000462950.1:n.*110G>C
NM_000077.4:c.466G>C , LRG_11t1:c.466G>C NP_000068.1:p.Asp156His
NM_001195132.1:c.*159G>C NP_001182061.1:n.*159G>C
NM_058195.3:c.*110G>C , LRG_11t2:c.*110G>C NP_478102.2:n.*110G>C
NM_058197.4:c.740G>C NP_478104.2:n.740G>C
XM_005251343.1:c.313G>C XP_005251400.1:p.Asp105His
XM_011517679.1:c.313G>C XP_011515981.1:p.Asp105His
NM_001363763.1:c.313G>C NP_001350692.1:p.Asp105His
NM_001363763.2:c.313G>C NP_001350692.1:p.Asp105His
NM_000077.5:c.466G>C MANE Select NP_000068.1:p.Asp156His
NM_001195132.2:c.*159G>C NP_001182061.1:n.*159G>C
NM_058195.4:c.*110G>C MANE Plus Clinical NP_478102.2:n.*110G>C
NM_058197.5:c.*389G>C NP_478104.2:n.*389G>C