Canonical Allele Identifier: CA380684055
Gene: SDHAF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61438024T>C , CM000673.2:g.61438024T>C GRCh38
NC_000011.9:g.61205496T>C , CM000673.1:g.61205496T>C GRCh37
NC_000011.8:g.60962072T>C NCBI36
NG_023393.1:g.12900T>C , LRG_519:g.12900T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.281T>C MANE Select ENSP00000301761.3:p.Leu94Pro
ENST00000301761.6:c.281T>C ENSP00000301761.2:p.Leu94Pro
ENST00000359614.9:c.281T>C ENSP00000352630.5:p.Leu94Pro
ENST00000534878.5:c.281T>C ENSP00000471030.1:p.Leu94Pro
ENST00000536250.1:c.*283T>C ENSP00000471120.1:n.*283T>C
ENST00000536670.5:n.307T>C
ENST00000537782.5:c.281T>C ENSP00000469951.1:p.Leu94Pro
ENST00000538594.5:c.281T>C ENSP00000440939.1:p.Leu94Pro
ENST00000541135.5:c.281T>C ENSP00000443130.1:p.Leu94Pro
ENST00000542074.1:c.36+7842T>C ENSP00000469670.1:n.36+7842T>C
ENST00000542794.5:c.*283T>C ENSP00000439983.1:n.*283T>C
ENST00000543044.2:c.245T>C ENSP00000440219.1:p.Leu82Pro
ENST00000543265.1:c.260+176T>C ENSP00000443660.1:n.260+176T>C
ENST00000544025.5:n.376T>C
ENST00000544801.5:c.281T>C ENSP00000442581.1:p.Leu94Pro
ENST00000544880.1:n.285T>C
NM_017841.2:c.281T>C , LRG_519t1:c.281T>C NP_060311.1:p.Leu94Pro
NM_017841.4:c.281T>C MANE Select NP_060311.1:p.Leu94Pro