Canonical Allele Identifier: CA393802398
Gene: IDH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088682C>A , CM000677.2:g.90088682C>A GRCh38
NC_000015.9:g.90631914C>A , CM000677.1:g.90631914C>A GRCh37
NC_000015.8:g.88432918C>A NCBI36
NG_023302.1:g.18795G>T , LRG_611:g.18795G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.439G>T MANE Select ENSP00000331897.4:p.Val147Phe
ENST00000330062.7:c.439G>T ENSP00000331897.3:p.Val147Phe
ENST00000540499.2:c.283G>T ENSP00000446147.2:p.Val95Phe
ENST00000559482.5:c.208-180G>T ENSP00000453016.1:n.208-180G>T
ENST00000560061.1:c.*64G>T ENSP00000453254.1:n.*64G>T
NM_001289910.1:c.283G>T , LRG_611t1:c.283G>T NP_001276839.1:p.Val95Phe
NM_001290114.1:c.49G>T NP_001277043.1:p.Val17Phe
NM_002168.3:c.439G>T , LRG_611t2:c.439G>T NP_002159.2:p.Val147Phe
NM_001290114.2:c.49G>T NP_001277043.1:p.Val17Phe
NM_002168.4:c.439G>T MANE Select NP_002159.2:p.Val147Phe