Canonical Allele Identifier: CA393803077
Community Standard Title: NM_002168.4(IDH2):c.145C>G (p.Pro49Ala)
Gene: IDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90091615G>C , CM000677.2:g.90091615G>C GRCh38
NC_000015.9:g.90634847G>C , CM000677.1:g.90634847G>C GRCh37
NC_000015.8:g.88435851G>C NCBI36
NG_023302.1:g.15862C>G , LRG_611:g.15862C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002168.4:c.145C>G MANE Select NP_002159.2:p.Pro49Ala
ENST00000330062.8:c.145C>G MANE Select ENSP00000331897.4:p.Pro49Ala
NM_001289910.1:c.-12C>G , LRG_611t1:c.-12C>G NP_001276839.1:n.-12C>G
NM_001290114.1:c.-17-2868C>G NP_001277043.1:n.-17-2868C>G
NM_001290114.2:c.-17-2868C>G NP_001277043.1:n.-17-2868C>G
NM_002168.3:c.145C>G , LRG_611t2:c.145C>G NP_002159.2:p.Pro49Ala
ENST00000330062.7:c.145C>G ENSP00000331897.3:p.Pro49Ala
ENST00000540499.2:c.-12C>G ENSP00000446147.2:n.-12C>G
ENST00000559482.5:c.145C>G ENSP00000453016.1:p.Pro49Ala
ENST00000560061.1:c.116-2868C>G ENSP00000453254.1:n.116-2868C>G