Canonical Allele Identifier: CA7733196

Gene: IDH2

Linked Data

• dbSNP Id: rs763989792
• ExAC: 15:90631975 G / C
• gnomAD v2: 15-90631975-G-C
• gnomAD v4: 15-90088743-G-C
• MyVariant Identifiers: chr15:g.90631975G>C (hg19) ; chr15:g.90088743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088743G>C , CM000677.2:g.90088743G>C	GRCh38
NC_000015.9:g.90631975G>C , CM000677.1:g.90631975G>C	GRCh37
NC_000015.8:g.88432979G>C	NCBI36
NG_023302.1:g.18734C>G , LRG_611:g.18734C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.378C>G MANE Select	ENSP00000331897.4:p.Phe126Leu
ENST00000330062.7:c.378C>G	ENSP00000331897.3:p.Phe126Leu
ENST00000540499.2:c.222C>G	ENSP00000446147.2:p.Phe74Leu
ENST00000559482.5:c.208-241C>G	ENSP00000453016.1:n.208-241C>G
ENST00000560061.1:c.*3C>G	ENSP00000453254.1:n.*3C>G
NM_001289910.1:c.222C>G , LRG_611t1:c.222C>G	NP_001276839.1:p.Phe74Leu
NM_001290114.1:c.-13C>G	NP_001277043.1:n.-13C>G
NM_002168.3:c.378C>G , LRG_611t2:c.378C>G	NP_002159.2:p.Phe126Leu
NM_001290114.2:c.-13C>G	NP_001277043.1:n.-13C>G
NM_002168.4:c.378C>G MANE Select	NP_002159.2:p.Phe126Leu