Canonical Allele Identifier: CA393801908

Gene: IDH2

Linked Data

• dbSNP Id: rs1696967375
• gnomAD v4: 15-90088374-C-T
• COSMIC: COSM5850056
• MyVariant Identifiers: chr15:g.90631606C>T (hg19) ; chr15:g.90088374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088374C>T , CM000677.2:g.90088374C>T	GRCh38
NC_000015.9:g.90631606C>T , CM000677.1:g.90631606C>T	GRCh37
NC_000015.8:g.88432610C>T	NCBI36
NG_023302.1:g.19103G>A , LRG_611:g.19103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.663G>A MANE Select	ENSP00000331897.4:p.Met221Ile
ENST00000330062.7:c.663G>A	ENSP00000331897.3:p.Met221Ile
ENST00000540499.2:c.507G>A	ENSP00000446147.2:p.Met169Ile
ENST00000559482.5:c.336G>A	ENSP00000453016.1:p.Met112Ile
ENST00000560061.1:c.*288G>A	ENSP00000453254.1:n.*288G>A
NM_001289910.1:c.507G>A , LRG_611t1:c.507G>A	NP_001276839.1:p.Met169Ile
NM_001290114.1:c.273G>A	NP_001277043.1:p.Met91Ile
NM_002168.3:c.663G>A , LRG_611t2:c.663G>A	NP_002159.2:p.Met221Ile
NM_001290114.2:c.273G>A	NP_001277043.1:p.Met91Ile
NM_002168.4:c.663G>A MANE Select	NP_002159.2:p.Met221Ile