Canonical Allele Identifier: CA380685294
Gene: SDHAF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61445969A>C , CM000673.2:g.61445969A>C GRCh38
NC_000011.9:g.61213441A>C , CM000673.1:g.61213441A>C GRCh37
NC_000011.8:g.60970017A>C NCBI36
NG_023393.1:g.20845A>C , LRG_519:g.20845A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.399A>C MANE Select ENSP00000301761.3:p.Glu133Asp
ENST00000301761.6:c.399A>C ENSP00000301761.2:p.Glu133Asp
ENST00000359614.9:c.*107A>C ENSP00000352630.5:n.*107A>C
ENST00000536670.5:n.396+7856A>C
ENST00000537782.5:c.*45A>C ENSP00000469951.1:n.*45A>C
ENST00000538594.5:c.370+7856A>C ENSP00000440939.1:n.370+7856A>C
ENST00000541135.5:c.377+7849A>C ENSP00000443130.1:n.377+7849A>C
ENST00000542074.1:c.65A>C ENSP00000469670.1:p.Lys22Thr
ENST00000542794.5:c.*401A>C ENSP00000439983.1:n.*401A>C
ENST00000543044.2:c.363A>C ENSP00000440219.1:p.Glu121Asp
ENST00000543265.1:c.*22A>C ENSP00000443660.1:n.*22A>C
ENST00000544025.5:n.465+7856A>C
ENST00000544801.5:c.370+7856A>C ENSP00000442581.1:n.370+7856A>C
ENST00000544880.1:n.374+7856A>C
NM_017841.2:c.399A>C , LRG_519t1:c.399A>C NP_060311.1:p.Glu133Asp
NM_017841.4:c.399A>C MANE Select NP_060311.1:p.Glu133Asp