Canonical Allele Identifier: CA7733173

Gene: IDH2

Linked Data

• dbSNP Id: rs767668749
• ExAC: 15:90631848 T / C
• gnomAD v2: 15-90631848-T-C
• gnomAD v4: 15-90088616-T-C
• MyVariant Identifiers: chr15:g.90631848T>C (hg19) ; chr15:g.90088616T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088616T>C , CM000677.2:g.90088616T>C	GRCh38
NC_000015.9:g.90631848T>C , CM000677.1:g.90631848T>C	GRCh37
NC_000015.8:g.88432852T>C	NCBI36
NG_023302.1:g.18861A>G , LRG_611:g.18861A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000330062.8:c.505A>G MANE Select	ENSP00000331897.4:p.Thr169Ala
ENST00000330062.7:c.505A>G	ENSP00000331897.3:p.Thr169Ala
ENST00000540499.2:c.349A>G	ENSP00000446147.2:p.Thr117Ala
ENST00000559482.5:c.208-114A>G	ENSP00000453016.1:n.208-114A>G
ENST00000560061.1:c.*130A>G	ENSP00000453254.1:n.*130A>G
NM_001289910.1:c.349A>G , LRG_611t1:c.349A>G	NP_001276839.1:p.Thr117Ala
NM_001290114.1:c.115A>G	NP_001277043.1:p.Thr39Ala
NM_002168.3:c.505A>G , LRG_611t2:c.505A>G	NP_002159.2:p.Thr169Ala
NM_001290114.2:c.115A>G	NP_001277043.1:p.Thr39Ala
NM_002168.4:c.505A>G MANE Select	NP_002159.2:p.Thr169Ala