Canonical Allele Identifier: CA16602464

Gene: IDH2

Linked Data

• ClinVar Variation Id: 375989
• ClinVar RCV Id: RCV000422389 ; RCV000421344 ; RCV000428106 ; RCV000438361 ; RCV000438997 ; RCV001796031
• dbSNP Id: rs267606870
• gnomAD v2: 15-90631935-G-A
• gnomAD v4: 15-90088703-G-A
• COSMIC: COSM41877
• MyVariant Identifiers: chr15:g.90631935G>A (hg19) ; chr15:g.90088703G>A (hg38)
• PubMed: PMID:22160010 ; PMID:22417203 ; PMID:22898539 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088703G>A , CM000677.2:g.90088703G>A	GRCh38
NC_000015.9:g.90631935G>A , CM000677.1:g.90631935G>A	GRCh37
NC_000015.8:g.88432939G>A	NCBI36
NG_023302.1:g.18774C>T , LRG_611:g.18774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.418C>T MANE Select	ENSP00000331897.4:p.Arg140Trp
ENST00000330062.7:c.418C>T	ENSP00000331897.3:p.Arg140Trp
ENST00000540499.2:c.262C>T	ENSP00000446147.2:p.Arg88Trp
ENST00000559482.5:c.208-201C>T	ENSP00000453016.1:n.208-201C>T
ENST00000560061.1:c.*43C>T	ENSP00000453254.1:n.*43C>T
NM_001289910.1:c.262C>T , LRG_611t1:c.262C>T	NP_001276839.1:p.Arg88Trp
NM_001290114.1:c.28C>T	NP_001277043.1:p.Arg10Trp
NM_002168.3:c.418C>T , LRG_611t2:c.418C>T	NP_002159.2:p.Arg140Trp
NM_001290114.2:c.28C>T	NP_001277043.1:p.Arg10Trp
NM_002168.4:c.418C>T MANE Select	NP_002159.2:p.Arg140Trp