Canonical Allele Identifier: CA393802454
Gene: IDH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2135666
ClinVar RCV Id: RCV003059676
dbSNP Id: rs749063791

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088714T>A , CM000677.2:g.90088714T>A GRCh38
NC_000015.9:g.90631946T>A , CM000677.1:g.90631946T>A GRCh37
NC_000015.8:g.88432950T>A NCBI36
NG_023302.1:g.18763A>T , LRG_611:g.18763A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.407A>T MANE Select ENSP00000331897.4:p.Asn136Ile
ENST00000330062.7:c.407A>T ENSP00000331897.3:p.Asn136Ile
ENST00000540499.2:c.251A>T ENSP00000446147.2:p.Asn84Ile
ENST00000559482.5:c.208-212A>T ENSP00000453016.1:n.208-212A>T
ENST00000560061.1:c.*32A>T ENSP00000453254.1:n.*32A>T
NM_001289910.1:c.251A>T , LRG_611t1:c.251A>T NP_001276839.1:p.Asn84Ile
NM_001290114.1:c.17A>T NP_001277043.1:p.Asn6Ile
NM_002168.3:c.407A>T , LRG_611t2:c.407A>T NP_002159.2:p.Asn136Ile
NM_001290114.2:c.17A>T NP_001277043.1:p.Asn6Ile
NM_002168.4:c.407A>T MANE Select NP_002159.2:p.Asn136Ile