Canonical Allele Identifier: CA5012127

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1171898
• ClinVar RCV Id: RCV001525345 ; RCV001873666
• dbSNP Id: rs755445934
• ExAC: 9:21968233 C / A
• gnomAD v2: 9-21968233-C-A
• gnomAD v4: 9-21968234-C-A
• MyVariant Identifiers: chr9:g.21968233C>A (hg19) ; chr9:g.21968234C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.466G>T MANE Select	ENSP00000307101.5:p.Asp156Tyr
ENST00000404796.3:c.348-61199C>A	ENSP00000385916.2:n.348-61199C>A
ENST00000579755.2:c.*110G>T MANE Plus Clinical	ENSP00000462950.1:n.*110G>T
ENST00000304494.9:c.466G>T	ENSP00000307101.5:p.Asp156Tyr
ENST00000361570.4:c.508G>T	ENSP00000355153.4:p.Asp170Tyr
ENST00000380151.3:c.740G>T	ENSP00000369496.3:n.740G>T
ENST00000404796.2:c.348-61199C>A	ENSP00000385916.2:n.348-61199C>A
ENST00000494262.5:c.313G>T	ENSP00000464952.1:p.Asp105Tyr
ENST00000498124.1:c.*159G>T	ENSP00000418915.1:n.*159G>T
ENST00000498628.6:c.313G>T	ENSP00000467857.1:p.Asp105Tyr
ENST00000530628.2:c.*36G>T	ENSP00000432664.2:n.*36G>T
ENST00000578845.2:c.313G>T	ENSP00000467390.1:p.Asp105Tyr
ENST00000579122.1:c.392G>T	ENSP00000464202.1:p.Arg131Leu
ENST00000579755.1:c.*110G>T	ENSP00000462950.1:n.*110G>T
NM_000077.4:c.466G>T , LRG_11t1:c.466G>T	NP_000068.1:p.Asp156Tyr
NM_001195132.1:c.*159G>T	NP_001182061.1:n.*159G>T
NM_058195.3:c.*110G>T , LRG_11t2:c.*110G>T	NP_478102.2:n.*110G>T
NM_058197.4:c.740G>T	NP_478104.2:n.740G>T
XM_005251343.1:c.313G>T	XP_005251400.1:p.Asp105Tyr
XM_011517679.1:c.313G>T	XP_011515981.1:p.Asp105Tyr
NM_001363763.1:c.313G>T	NP_001350692.1:p.Asp105Tyr
NM_001363763.2:c.313G>T	NP_001350692.1:p.Asp105Tyr
NM_000077.5:c.466G>T MANE Select	NP_000068.1:p.Asp156Tyr
NM_001195132.2:c.*159G>T	NP_001182061.1:n.*159G>T
NM_058195.4:c.*110G>T MANE Plus Clinical	NP_478102.2:n.*110G>T
NM_058197.5:c.*389G>T	NP_478104.2:n.*389G>T