Canonical Allele Identifier: CA124277

Gene: IDH2

Linked Data

• ClinVar Variation Id: 14716
• ClinVar RCV Id: RCV000015831 ; RCV000419192 ; RCV000431189 ; RCV000430530 ; RCV000292094 ; RCV000420290 ; RCV000441454 ; RCV002513067
• dbSNP Id: rs121913502
• ExAC: 15:90631934 C / T
• gnomAD v2: 15-90631934-C-T
• gnomAD v3: 15-90088702-C-T
• gnomAD v4: 15-90088702-C-T
• COSMIC: COSM41590
• MyVariant Identifiers: chr15:g.90631934C>T (hg19) ; chr15:g.90088702C>T (hg38)
• PubMed: PMID:20171147 ; PMID:20847235 ; PMID:20946881 ; PMID:22160010 ; PMID:22397365 ; PMID:23558173 ; PMID:23815907 ; PMID:23949315 ; PMID:24049096 ; PMID:24606448 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088702C>T , CM000677.2:g.90088702C>T	GRCh38
NC_000015.9:g.90631934C>T , CM000677.1:g.90631934C>T	GRCh37
NC_000015.8:g.88432938C>T	NCBI36
NG_023302.1:g.18775G>A , LRG_611:g.18775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.419G>A MANE Select	ENSP00000331897.4:p.Arg140Gln
ENST00000330062.7:c.419G>A	ENSP00000331897.3:p.Arg140Gln
ENST00000540499.2:c.263G>A	ENSP00000446147.2:p.Arg88Gln
ENST00000559482.5:c.208-200G>A	ENSP00000453016.1:n.208-200G>A
ENST00000560061.1:c.*44G>A	ENSP00000453254.1:n.*44G>A
NM_001289910.1:c.263G>A , LRG_611t1:c.263G>A	NP_001276839.1:p.Arg88Gln
NM_001290114.1:c.29G>A	NP_001277043.1:p.Arg10Gln
NM_002168.3:c.419G>A , LRG_611t2:c.419G>A	NP_002159.2:p.Arg140Gln
NM_001290114.2:c.29G>A	NP_001277043.1:p.Arg10Gln
NM_002168.4:c.419G>A MANE Select	NP_002159.2:p.Arg140Gln