Canonical Allele Identifier: CA373085891

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1353011
• ClinVar RCV Id: RCV002040111 ; RCV002331355
• dbSNP Id: rs1819684763
• COSMIC: COSM5991491
• MyVariant Identifiers: chr9:g.21970945C>T (hg19) ; chr9:g.21970946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970946C>T , CM000671.2:g.21970946C>T	GRCh38
NC_000009.11:g.21970945C>T , CM000671.1:g.21970945C>T	GRCh37
NC_000009.10:g.21960945C>T	NCBI36
NG_007485.1:g.28546G>A , LRG_11:g.28546G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.413G>A MANE Select	ENSP00000307101.5:p.Arg138Lys
ENST00000404796.3:c.348-58487C>T	ENSP00000385916.2:n.348-58487C>T
ENST00000579755.2:c.*57G>A MANE Plus Clinical	ENSP00000462950.1:n.*57G>A
ENST00000304494.9:c.413G>A	ENSP00000307101.5:p.Arg138Lys
ENST00000361570.4:c.455G>A	ENSP00000355153.4:p.Arg152Lys
ENST00000380150.2:n.387G>A
ENST00000380151.3:c.687G>A	ENSP00000369496.3:n.687G>A
ENST00000404796.2:c.348-58487C>T	ENSP00000385916.2:n.348-58487C>T
ENST00000479692.2:c.260G>A	ENSP00000466887.1:p.Arg87Lys
ENST00000494262.5:c.260G>A	ENSP00000464952.1:p.Arg87Lys
ENST00000497750.1:c.260G>A	ENSP00000468510.1:p.Arg87Lys
ENST00000498124.1:c.413G>A	ENSP00000418915.1:p.Arg138Lys
ENST00000498628.6:c.260G>A	ENSP00000467857.1:p.Arg87Lys
ENST00000530628.2:c.*27+30G>A	ENSP00000432664.2:n.*27+30G>A
ENST00000578845.2:c.260G>A	ENSP00000467390.1:p.Arg87Lys
ENST00000579122.1:c.383+30G>A	ENSP00000464202.1:n.383+30G>A
ENST00000579755.1:c.*57G>A	ENSP00000462950.1:n.*57G>A
NM_000077.4:c.413G>A , LRG_11t1:c.413G>A	NP_000068.1:p.Arg138Lys
NM_001195132.1:c.413G>A	NP_001182061.1:p.Arg138Lys
NM_058195.3:c.*57G>A , LRG_11t2:c.*57G>A	NP_478102.2:n.*57G>A
NM_058197.4:c.687G>A	NP_478104.2:n.687G>A
XM_005251343.1:c.260G>A	XP_005251400.1:p.Arg87Lys
XM_011517675.1:c.413G>A	XP_011515977.1:p.Arg138Lys
XM_011517676.1:c.413G>A	XP_011515978.1:p.Arg138Lys
XM_011517679.1:c.260G>A	XP_011515981.1:p.Arg87Lys
XR_929159.1:n.814G>A
XR_929161.1:n.603G>A
XR_929162.1:n.603G>A
XR_929163.1:n.552G>A
XR_929164.1:n.335G>A
NM_001363763.1:c.260G>A	NP_001350692.1:p.Arg87Lys
XM_011517675.2:c.413G>A	XP_011515977.1:p.Arg138Lys
XM_011517676.2:c.413G>A	XP_011515978.1:p.Arg138Lys
XR_929159.2:n.743G>A
NM_001363763.2:c.260G>A	NP_001350692.1:p.Arg87Lys
NM_000077.5:c.413G>A MANE Select	NP_000068.1:p.Arg138Lys
NM_001195132.2:c.413G>A	NP_001182061.1:p.Arg138Lys
NM_058195.4:c.*57G>A MANE Plus Clinical	NP_478102.2:n.*57G>A
NM_058197.5:c.*336G>A	NP_478104.2:n.*336G>A