Canonical Allele Identifier: CA393801953
Community Standard Title: NM_002168.4(IDH2):c.638C>T (p.Pro213Leu)
Gene: IDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088399G>A , CM000677.2:g.90088399G>A GRCh38
NC_000015.9:g.90631631G>A , CM000677.1:g.90631631G>A GRCh37
NC_000015.8:g.88432635G>A NCBI36
NG_023302.1:g.19078C>T , LRG_611:g.19078C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002168.4:c.638C>T MANE Select NP_002159.2:p.Pro213Leu
ENST00000330062.8:c.638C>T MANE Select ENSP00000331897.4:p.Pro213Leu
NM_001289910.1:c.482C>T , LRG_611t1:c.482C>T NP_001276839.1:p.Pro161Leu
NM_001290114.1:c.248C>T NP_001277043.1:p.Pro83Leu
NM_001290114.2:c.248C>T NP_001277043.1:p.Pro83Leu
NM_002168.3:c.638C>T , LRG_611t2:c.638C>T NP_002159.2:p.Pro213Leu
ENST00000330062.7:c.638C>T ENSP00000331897.3:p.Pro213Leu
ENST00000540499.2:c.482C>T ENSP00000446147.2:p.Pro161Leu
ENST00000559482.5:c.311C>T ENSP00000453016.1:p.Pro104Leu
ENST00000560061.1:c.*263C>T ENSP00000453254.1:n.*263C>T