Canonical Allele Identifier: CA373085054
Gene: CDKN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968231A>C , CM000671.2:g.21968231A>C GRCh38
NC_000009.11:g.21968230A>C , CM000671.1:g.21968230A>C GRCh37
NC_000009.10:g.21958230A>C NCBI36
NG_007485.1:g.31261T>G , LRG_11:g.31261T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.469T>G MANE Select ENSP00000307101.5:p.Ter157Gly
ENST00000404796.3:c.348-61202A>C ENSP00000385916.2:n.348-61202A>C
ENST00000579755.2:c.*113T>G MANE Plus Clinical ENSP00000462950.1:n.*113T>G
ENST00000304494.9:c.469T>G ENSP00000307101.5:p.Ter157Gly
ENST00000361570.4:c.511T>G ENSP00000355153.4:p.Ter171Gly
ENST00000380151.3:c.743T>G ENSP00000369496.3:n.743T>G
ENST00000404796.2:c.348-61202A>C ENSP00000385916.2:n.348-61202A>C
ENST00000494262.5:c.316T>G ENSP00000464952.1:p.Ter106Gly
ENST00000498124.1:c.*162T>G ENSP00000418915.1:n.*162T>G
ENST00000498628.6:c.316T>G ENSP00000467857.1:p.Ter106Gly
ENST00000530628.2:c.*39T>G ENSP00000432664.2:n.*39T>G
ENST00000578845.2:c.316T>G ENSP00000467390.1:p.Ter106Gly
ENST00000579122.1:c.395T>G ENSP00000464202.1:p.Leu132Trp
ENST00000579755.1:c.*113T>G ENSP00000462950.1:n.*113T>G
NM_000077.4:c.469T>G , LRG_11t1:c.469T>G NP_000068.1:p.Ter157Gly
NM_001195132.1:c.*162T>G NP_001182061.1:n.*162T>G
NM_058195.3:c.*113T>G , LRG_11t2:c.*113T>G NP_478102.2:n.*113T>G
NM_058197.4:c.743T>G NP_478104.2:n.743T>G
XM_005251343.1:c.316T>G XP_005251400.1:p.Ter106Gly
XM_011517679.1:c.316T>G XP_011515981.1:p.Ter106Gly
NM_001363763.1:c.316T>G NP_001350692.1:p.Ter106Gly
NM_001363763.2:c.316T>G NP_001350692.1:p.Ter106Gly
NM_000077.5:c.469T>G MANE Select NP_000068.1:p.Ter157Gly
NM_001195132.2:c.*162T>G NP_001182061.1:n.*162T>G
NM_058195.4:c.*113T>G MANE Plus Clinical NP_478102.2:n.*113T>G
NM_058197.5:c.*392T>G NP_478104.2:n.*392T>G