Canonical Allele Identifier: CA2580084356

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 2431366
• ClinVar RCV Id: RCV003140419

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446049_61446052del , CM000673.2:g.61446049_61446052del	GRCh38
NC_000011.9:g.61213521_61213524del , CM000673.1:g.61213521_61213524del	GRCh37
NC_000011.8:g.60970097_60970100del	NCBI36
NG_023393.1:g.20925_20928del , LRG_519:g.20925_20928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.479_482del MANE Select	ENSP00000301761.3:p.Tyr160SerfsTer22
ENST00000301761.6:c.479_482del	ENSP00000301761.2:p.Tyr160SerfsTer22
ENST00000536670.5:n.396+7936_396+7939del
ENST00000537782.5:c.*125_*128del	ENSP00000469951.1:n.*125_*128del
ENST00000538594.5:c.370+7936_370+7939del	ENSP00000440939.1:n.370+7936_370+7939del
ENST00000541135.5:c.377+7929_377+7932del	ENSP00000443130.1:n.377+7929_377+7932del
ENST00000542074.1:c.*58_*61del	ENSP00000469670.1:n.*58_*61del
ENST00000542794.5:c.*481_*484del	ENSP00000439983.1:n.*481_*484del
ENST00000543044.2:c.443_446del	ENSP00000440219.1:p.Tyr148SerfsTer22
ENST00000543265.1:c.*102_*105del	ENSP00000443660.1:n.*102_*105del
ENST00000544025.5:n.465+7936_465+7939del
ENST00000544801.5:c.370+7936_370+7939del	ENSP00000442581.1:n.370+7936_370+7939del
ENST00000544880.1:n.374+7936_374+7939del
NM_017841.2:c.479_482del , LRG_519t1:c.479_482del	NP_060311.1:p.Tyr160SerfsTer22
NM_017841.4:c.479_482del MANE Select	NP_060311.1:p.Tyr160SerfsTer22