Canonical Allele Identifier: CA16602463

Gene: IDH2

Linked Data

• ClinVar Variation Id: 375988
• ClinVar RCV Id: RCV000419881 ; RCV000424921 ; RCV000426646 ; RCV000435643 ; RCV000436884
• dbSNP Id: rs121913502
• gnomAD v4: 15-90088702-C-A
• COSMIC: COSM41875
• MyVariant Identifiers: chr15:g.90631934C>A (hg19) ; chr15:g.90088702C>A (hg38)
• PubMed: PMID:22160010 ; PMID:22417203 ; PMID:26619011

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.419G>T MANE Select	ENSP00000331897.4:p.Arg140Leu
ENST00000330062.7:c.419G>T	ENSP00000331897.3:p.Arg140Leu
ENST00000540499.2:c.263G>T	ENSP00000446147.2:p.Arg88Leu
ENST00000559482.5:c.208-200G>T	ENSP00000453016.1:n.208-200G>T
ENST00000560061.1:c.*44G>T	ENSP00000453254.1:n.*44G>T
NM_001289910.1:c.263G>T , LRG_611t1:c.263G>T	NP_001276839.1:p.Arg88Leu
NM_001290114.1:c.29G>T	NP_001277043.1:p.Arg10Leu
NM_002168.3:c.419G>T , LRG_611t2:c.419G>T	NP_002159.2:p.Arg140Leu
NM_001290114.2:c.29G>T	NP_001277043.1:p.Arg10Leu
NM_002168.4:c.419G>T MANE Select	NP_002159.2:p.Arg140Leu