Canonical Allele Identifier: CA393802258
Gene: IDH2 HGNC NCBI

Linked Data

dbSNP Id: rs2151549575

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088618A>G , CM000677.2:g.90088618A>G GRCh38
NC_000015.9:g.90631850A>G , CM000677.1:g.90631850A>G GRCh37
NC_000015.8:g.88432854A>G NCBI36
NG_023302.1:g.18859T>C , LRG_611:g.18859T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.503T>C MANE Select ENSP00000331897.4:p.Ile168Thr
ENST00000330062.7:c.503T>C ENSP00000331897.3:p.Ile168Thr
ENST00000540499.2:c.347T>C ENSP00000446147.2:p.Ile116Thr
ENST00000559482.5:c.208-116T>C ENSP00000453016.1:n.208-116T>C
ENST00000560061.1:c.*128T>C ENSP00000453254.1:n.*128T>C
NM_001289910.1:c.347T>C , LRG_611t1:c.347T>C NP_001276839.1:p.Ile116Thr
NM_001290114.1:c.113T>C NP_001277043.1:p.Ile38Thr
NM_002168.3:c.503T>C , LRG_611t2:c.503T>C NP_002159.2:p.Ile168Thr
NM_001290114.2:c.113T>C NP_001277043.1:p.Ile38Thr
NM_002168.4:c.503T>C MANE Select NP_002159.2:p.Ile168Thr