Canonical Allele Identifier: CA16602462

Gene: IDH2

Linked Data

• ClinVar Variation Id: 375987
• ClinVar RCV Id: RCV000421863 ; RCV000426009 ; RCV000431485 ; RCV000432566 ; RCV000444071 ; RCV000445068 ; RCV002254524
• dbSNP Id: rs121913503
• gnomAD v4: 15-90088606-C-T
• COSMIC: COSM33733
• MyVariant Identifiers: chr15:g.90631838C>T (hg19) ; chr15:g.90088606C>T (hg38)
• CIViC: CA16602462
• PubMed: PMID:20946881 ; PMID:21250968 ; PMID:21596855 ; PMID:21997850 ; PMID:22160010 ; PMID:22397365 ; PMID:22417203 ; PMID:22616558 ; PMID:23949315 ; PMID:24606448 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088606C>T , CM000677.2:g.90088606C>T	GRCh38
NC_000015.9:g.90631838C>T , CM000677.1:g.90631838C>T	GRCh37
NC_000015.8:g.88432842C>T	NCBI36
NG_023302.1:g.18871G>A , LRG_611:g.18871G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330062.8:c.515G>A MANE Select	ENSP00000331897.4:p.Arg172Lys
ENST00000330062.7:c.515G>A	ENSP00000331897.3:p.Arg172Lys
ENST00000540499.2:c.359G>A	ENSP00000446147.2:p.Arg120Lys
ENST00000559482.5:c.208-104G>A	ENSP00000453016.1:n.208-104G>A
ENST00000560061.1:c.*140G>A	ENSP00000453254.1:n.*140G>A
NM_001289910.1:c.359G>A , LRG_611t1:c.359G>A	NP_001276839.1:p.Arg120Lys
NM_001290114.1:c.125G>A	NP_001277043.1:p.Arg42Lys
NM_002168.3:c.515G>A , LRG_611t2:c.515G>A	NP_002159.2:p.Arg172Lys
NM_001290114.2:c.125G>A	NP_001277043.1:p.Arg42Lys
NM_002168.4:c.515G>A MANE Select	NP_002159.2:p.Arg172Lys