Canonical Allele Identifier: CA2580084355

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 1742479
• ClinVar RCV Id: RCV002335254

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446039_61446042del , CM000673.2:g.61446039_61446042del	GRCh38
NC_000011.9:g.61213511_61213514del , CM000673.1:g.61213511_61213514del	GRCh37
NC_000011.8:g.60970087_60970090del	NCBI36
NG_023393.1:g.20915_20918del , LRG_519:g.20915_20918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.469_472del MANE Select	ENSP00000301761.3:p.Asp157LeufsTer25
ENST00000301761.6:c.469_472del	ENSP00000301761.2:p.Asp157LeufsTer25
ENST00000536670.5:n.396+7926_396+7929del
ENST00000537782.5:c.*115_*118del	ENSP00000469951.1:n.*115_*118del
ENST00000538594.5:c.370+7926_370+7929del	ENSP00000440939.1:n.370+7926_370+7929del
ENST00000541135.5:c.377+7919_377+7922del	ENSP00000443130.1:n.377+7919_377+7922del
ENST00000542074.1:c.*48_*51del	ENSP00000469670.1:n.*48_*51del
ENST00000542794.5:c.*471_*474del	ENSP00000439983.1:n.*471_*474del
ENST00000543044.2:c.433_436del	ENSP00000440219.1:p.Asp145LeufsTer25
ENST00000543265.1:c.*92_*95del	ENSP00000443660.1:n.*92_*95del
ENST00000544025.5:n.465+7926_465+7929del
ENST00000544801.5:c.370+7926_370+7929del	ENSP00000442581.1:n.370+7926_370+7929del
ENST00000544880.1:n.374+7926_374+7929del
NM_017841.2:c.469_472del , LRG_519t1:c.469_472del	NP_060311.1:p.Asp157LeufsTer25
NM_017841.4:c.469_472del MANE Select	NP_060311.1:p.Asp157LeufsTer25