Canonical Allele Identifier: CA373085958

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1329079
• ClinVar RCV Id: RCV001797970 ; RCV002361056
• dbSNP Id: rs1290057397
• gnomAD v3: 9-21970984-A-T
• gnomAD v4: 9-21970984-A-T
• COSMIC: COSM20973
• MyVariant Identifiers: chr9:g.21970983A>T (hg19) ; chr9:g.21970984A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970984A>T , CM000671.2:g.21970984A>T	GRCh38
NC_000009.11:g.21970983A>T , CM000671.1:g.21970983A>T	GRCh37
NC_000009.10:g.21960983A>T	NCBI36
NG_007485.1:g.28508T>A , LRG_11:g.28508T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.375T>A MANE Select	ENSP00000307101.5:p.Asp125Glu
ENST00000404796.3:c.348-58449A>T	ENSP00000385916.2:n.348-58449A>T
ENST00000579755.2:c.*19T>A MANE Plus Clinical	ENSP00000462950.1:n.*19T>A
ENST00000304494.9:c.375T>A	ENSP00000307101.5:p.Asp125Glu
ENST00000361570.4:c.417T>A	ENSP00000355153.4:p.Asp139Glu
ENST00000380150.2:n.349T>A
ENST00000380151.3:c.649T>A	ENSP00000369496.3:n.649T>A
ENST00000404796.2:c.348-58449A>T	ENSP00000385916.2:n.348-58449A>T
ENST00000479692.2:c.222T>A	ENSP00000466887.1:p.Asp74Glu
ENST00000494262.5:c.222T>A	ENSP00000464952.1:p.Asp74Glu
ENST00000497750.1:c.222T>A	ENSP00000468510.1:p.Asp74Glu
ENST00000498124.1:c.375T>A	ENSP00000418915.1:p.Asp125Glu
ENST00000498628.6:c.222T>A	ENSP00000467857.1:p.Asp74Glu
ENST00000530628.2:c.*19T>A	ENSP00000432664.2:n.*19T>A
ENST00000578845.2:c.222T>A	ENSP00000467390.1:p.Asp74Glu
ENST00000579122.1:c.375T>A	ENSP00000464202.1:p.Asp125Glu
ENST00000579755.1:c.*19T>A	ENSP00000462950.1:n.*19T>A
NM_000077.4:c.375T>A , LRG_11t1:c.375T>A	NP_000068.1:p.Asp125Glu
NM_001195132.1:c.375T>A	NP_001182061.1:p.Asp125Glu
NM_058195.3:c.*19T>A , LRG_11t2:c.*19T>A	NP_478102.2:n.*19T>A
NM_058197.4:c.649T>A	NP_478104.2:n.649T>A
XM_005251343.1:c.222T>A	XP_005251400.1:p.Asp74Glu
XM_011517675.1:c.375T>A	XP_011515977.1:p.Asp125Glu
XM_011517676.1:c.375T>A	XP_011515978.1:p.Asp125Glu
XM_011517679.1:c.222T>A	XP_011515981.1:p.Asp74Glu
XR_929159.1:n.776T>A
XR_929161.1:n.565T>A
XR_929162.1:n.565T>A
XR_929163.1:n.514T>A
XR_929164.1:n.297T>A
NM_001363763.1:c.222T>A	NP_001350692.1:p.Asp74Glu
XM_011517675.2:c.375T>A	XP_011515977.1:p.Asp125Glu
XM_011517676.2:c.375T>A	XP_011515978.1:p.Asp125Glu
XR_929159.2:n.705T>A
NM_001363763.2:c.222T>A	NP_001350692.1:p.Asp74Glu
NM_000077.5:c.375T>A MANE Select	NP_000068.1:p.Asp125Glu
NM_001195132.2:c.375T>A	NP_001182061.1:p.Asp125Glu
NM_058195.4:c.*19T>A MANE Plus Clinical	NP_478102.2:n.*19T>A
NM_058197.5:c.*298T>A	NP_478104.2:n.*298T>A