Canonical Allele Identifier: CA2792329154
Gene: SDHAF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61446042_61446044dup , CM000673.2:g.61446042_61446044dup GRCh38
NC_000011.9:g.61213514_61213516dup , CM000673.1:g.61213514_61213516dup GRCh37
NC_000011.8:g.60970090_60970092dup NCBI36
NG_023393.1:g.20918_20920dup , LRG_519:g.20918_20920dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.472_474dup MANE Select ENSP00000301761.3:p.Leu158_Glu159insLeu
ENST00000301761.6:c.472_474dup ENSP00000301761.2:p.Leu158_Glu159insLeu
ENST00000536670.5:n.396+7929_396+7931dup
ENST00000537782.5:c.*118_*120dup ENSP00000469951.1:n.*118_*120dup
ENST00000538594.5:c.370+7929_370+7931dup ENSP00000440939.1:n.370+7929_370+7931dup
ENST00000541135.5:c.377+7922_377+7924dup ENSP00000443130.1:n.377+7922_377+7924dup
ENST00000542074.1:c.*51_*53dup ENSP00000469670.1:n.*51_*53dup
ENST00000542794.5:c.*474_*476dup ENSP00000439983.1:n.*474_*476dup
ENST00000543044.2:c.436_438dup ENSP00000440219.1:p.Leu146_Glu147insLeu
ENST00000543265.1:c.*95_*97dup ENSP00000443660.1:n.*95_*97dup
ENST00000544025.5:n.465+7929_465+7931dup
ENST00000544801.5:c.370+7929_370+7931dup ENSP00000442581.1:n.370+7929_370+7931dup
ENST00000544880.1:n.374+7929_374+7931dup
NM_017841.2:c.472_474dup , LRG_519t1:c.472_474dup NP_060311.1:p.Leu158_Glu159insLeu
NM_017841.4:c.472_474dup MANE Select NP_060311.1:p.Leu158_Glu159insLeu