Canonical Allele Identifier: CA16612852

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968242T>A , CM000671.2:g.21968242T>A	GRCh38
NC_000009.11:g.21968241T>A , CM000671.1:g.21968241T>A	GRCh37
NC_000009.10:g.21958241T>A	NCBI36
NG_007485.1:g.31250A>T , LRG_11:g.31250A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000077.5:c.458A>T MANE Select	NP_000068.1:p.Asp153Val
ENST00000304494.10:c.458A>T MANE Select	ENSP00000307101.5:p.Asp153Val
NM_058195.4:c.*102A>T MANE Plus Clinical	NP_478102.2:n.*102A>T
ENST00000579755.2:c.*102A>T MANE Plus Clinical	ENSP00000462950.1:n.*102A>T
NM_000077.4:c.458A>T , LRG_11t1:c.458A>T	NP_000068.1:p.Asp153Val
NM_001195132.1:c.*151A>T	NP_001182061.1:n.*151A>T
NM_001195132.2:c.*151A>T	NP_001182061.1:n.*151A>T
NM_001363763.1:c.305A>T	NP_001350692.1:p.Asp102Val
NM_001363763.2:c.305A>T	NP_001350692.1:p.Asp102Val
NM_058195.3:c.*102A>T , LRG_11t2:c.*102A>T	NP_478102.2:n.*102A>T
NM_058197.4:c.732A>T	NP_478104.2:n.732A>T
NM_058197.5:c.*381A>T	NP_478104.2:n.*381A>T
ENST00000304494.9:c.458A>T	ENSP00000307101.5:p.Asp153Val
ENST00000361570.4:c.500A>T	ENSP00000355153.4:p.Asp167Val
ENST00000380151.3:c.732A>T	ENSP00000369496.3:n.732A>T
ENST00000404796.2:c.348-61191T>A	ENSP00000385916.2:n.348-61191T>A
ENST00000404796.3:c.348-61191T>A	ENSP00000385916.2:n.348-61191T>A
ENST00000494262.5:c.305A>T	ENSP00000464952.1:p.Asp102Val
ENST00000498124.1:c.*151A>T	ENSP00000418915.1:n.*151A>T
ENST00000498628.6:c.305A>T	ENSP00000467857.1:p.Asp102Val
ENST00000530628.2:c.*28A>T	ENSP00000432664.2:n.*28A>T
ENST00000578845.2:c.305A>T	ENSP00000467390.1:p.Asp102Val
ENST00000579122.1:c.384A>T	ENSP00000464202.1:p.Arg128=
ENST00000579755.1:c.*102A>T	ENSP00000462950.1:n.*102A>T
XM_005251343.1:c.305A>T	XP_005251400.1:p.Asp102Val
XM_011517679.1:c.305A>T	XP_011515981.1:p.Asp102Val