Canonical Allele Identifier: CA373085057
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs749753811

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968232A>C , CM000671.2:g.21968232A>C GRCh38
NC_000009.11:g.21968231A>C , CM000671.1:g.21968231A>C GRCh37
NC_000009.10:g.21958231A>C NCBI36
NG_007485.1:g.31260T>G , LRG_11:g.31260T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.468T>G MANE Select ENSP00000307101.5:p.Asp156Glu
ENST00000404796.3:c.348-61201A>C ENSP00000385916.2:n.348-61201A>C
ENST00000579755.2:c.*112T>G MANE Plus Clinical ENSP00000462950.1:n.*112T>G
ENST00000304494.9:c.468T>G ENSP00000307101.5:p.Asp156Glu
ENST00000361570.4:c.510T>G ENSP00000355153.4:p.Asp170Glu
ENST00000380151.3:c.742T>G ENSP00000369496.3:n.742T>G
ENST00000404796.2:c.348-61201A>C ENSP00000385916.2:n.348-61201A>C
ENST00000494262.5:c.315T>G ENSP00000464952.1:p.Asp105Glu
ENST00000498124.1:c.*161T>G ENSP00000418915.1:n.*161T>G
ENST00000498628.6:c.315T>G ENSP00000467857.1:p.Asp105Glu
ENST00000530628.2:c.*38T>G ENSP00000432664.2:n.*38T>G
ENST00000578845.2:c.315T>G ENSP00000467390.1:p.Asp105Glu
ENST00000579122.1:c.394T>G ENSP00000464202.1:p.Leu132Val
ENST00000579755.1:c.*112T>G ENSP00000462950.1:n.*112T>G
NM_000077.4:c.468T>G , LRG_11t1:c.468T>G NP_000068.1:p.Asp156Glu
NM_001195132.1:c.*161T>G NP_001182061.1:n.*161T>G
NM_058195.3:c.*112T>G , LRG_11t2:c.*112T>G NP_478102.2:n.*112T>G
NM_058197.4:c.742T>G NP_478104.2:n.742T>G
XM_005251343.1:c.315T>G XP_005251400.1:p.Asp105Glu
XM_011517679.1:c.315T>G XP_011515981.1:p.Asp105Glu
NM_001363763.1:c.315T>G NP_001350692.1:p.Asp105Glu
NM_001363763.2:c.315T>G NP_001350692.1:p.Asp105Glu
NM_000077.5:c.468T>G MANE Select NP_000068.1:p.Asp156Glu
NM_001195132.2:c.*161T>G NP_001182061.1:n.*161T>G
NM_058195.4:c.*112T>G MANE Plus Clinical NP_478102.2:n.*112T>G
NM_058197.5:c.*391T>G NP_478104.2:n.*391T>G