Canonical Allele Identifier: CA16602461

Gene: IDH2

Linked Data

• ClinVar Variation Id: 375986
• ClinVar RCV Id: RCV000422933 ; RCV000431159 ; RCV000433618 ; RCV000440163 ; RCV000440790 ; RCV002254523
• dbSNP Id: rs121913503
• COSMIC: COSM33732
• MyVariant Identifiers: chr15:g.90631838C>A (hg19) ; chr15:g.90088606C>A (hg38)
• PubMed: PMID:22160010 ; PMID:22417203 ; PMID:22898539 ; PMID:26619011

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000330062.8:c.515G>T MANE Select	ENSP00000331897.4:p.Arg172Met
ENST00000330062.7:c.515G>T	ENSP00000331897.3:p.Arg172Met
ENST00000540499.2:c.359G>T	ENSP00000446147.2:p.Arg120Met
ENST00000559482.5:c.208-104G>T	ENSP00000453016.1:n.208-104G>T
ENST00000560061.1:c.*140G>T	ENSP00000453254.1:n.*140G>T
NM_001289910.1:c.359G>T , LRG_611t1:c.359G>T	NP_001276839.1:p.Arg120Met
NM_001290114.1:c.125G>T	NP_001277043.1:p.Arg42Met
NM_002168.3:c.515G>T , LRG_611t2:c.515G>T	NP_002159.2:p.Arg172Met
NM_001290114.2:c.125G>T	NP_001277043.1:p.Arg42Met
NM_002168.4:c.515G>T MANE Select	NP_002159.2:p.Arg172Met