Canonical Allele Identifier: CA393802218
Gene: IDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1261644524

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088597T>A , CM000677.2:g.90088597T>A GRCh38
NC_000015.9:g.90631829T>A , CM000677.1:g.90631829T>A GRCh37
NC_000015.8:g.88432833T>A NCBI36
NG_023302.1:g.18880A>T , LRG_611:g.18880A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.524A>T MANE Select ENSP00000331897.4:p.His175Leu
ENST00000330062.7:c.524A>T ENSP00000331897.3:p.His175Leu
ENST00000540499.2:c.368A>T ENSP00000446147.2:p.His123Leu
ENST00000559482.5:c.208-95A>T ENSP00000453016.1:n.208-95A>T
ENST00000560061.1:c.*149A>T ENSP00000453254.1:n.*149A>T
NM_001289910.1:c.368A>T , LRG_611t1:c.368A>T NP_001276839.1:p.His123Leu
NM_001290114.1:c.134A>T NP_001277043.1:p.His45Leu
NM_002168.3:c.524A>T , LRG_611t2:c.524A>T NP_002159.2:p.His175Leu
NM_001290114.2:c.134A>T NP_001277043.1:p.His45Leu
NM_002168.4:c.524A>T MANE Select NP_002159.2:p.His175Leu