Canonical Allele Identifier: CA7733191

Gene: IDH2

Linked Data

• ClinVar Variation Id: 1927900
• ClinVar RCV Id: RCV002621932
• dbSNP Id: rs767832682
• ExAC: 15:90631928 A / G
• gnomAD v2: 15-90631928-A-G
• gnomAD v4: 15-90088696-A-G
• MyVariant Identifiers: chr15:g.90631928A>G (hg19) ; chr15:g.90088696A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088696A>G , CM000677.2:g.90088696A>G	GRCh38
NC_000015.9:g.90631928A>G , CM000677.1:g.90631928A>G	GRCh37
NC_000015.8:g.88432932A>G	NCBI36
NG_023302.1:g.18781T>C , LRG_611:g.18781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.425T>C MANE Select	ENSP00000331897.4:p.Ile142Thr
ENST00000330062.7:c.425T>C	ENSP00000331897.3:p.Ile142Thr
ENST00000540499.2:c.269T>C	ENSP00000446147.2:p.Ile90Thr
ENST00000559482.5:c.208-194T>C	ENSP00000453016.1:n.208-194T>C
ENST00000560061.1:c.*50T>C	ENSP00000453254.1:n.*50T>C
NM_001289910.1:c.269T>C , LRG_611t1:c.269T>C	NP_001276839.1:p.Ile90Thr
NM_001290114.1:c.35T>C	NP_001277043.1:p.Ile12Thr
NM_002168.3:c.425T>C , LRG_611t2:c.425T>C	NP_002159.2:p.Ile142Thr
NM_001290114.2:c.35T>C	NP_001277043.1:p.Ile12Thr
NM_002168.4:c.425T>C MANE Select	NP_002159.2:p.Ile142Thr