Canonical Allele Identifier: CA2580084354

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 1742387
• ClinVar RCV Id: RCV002335201

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446037dup , CM000673.2:g.61446037dup	GRCh38
NC_000011.9:g.61213509dup , CM000673.1:g.61213509dup	GRCh37
NC_000011.8:g.60970085dup	NCBI36
NG_023393.1:g.20913dup , LRG_519:g.20913dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.467dup MANE Select	ENSP00000301761.3:p.Asp157ArgfsTer3
ENST00000301761.6:c.467dup	ENSP00000301761.2:p.Asp157ArgfsTer3
ENST00000536670.5:n.396+7924dup
ENST00000537782.5:c.*113dup	ENSP00000469951.1:n.*113dup
ENST00000538594.5:c.370+7924dup	ENSP00000440939.1:n.370+7924dup
ENST00000541135.5:c.377+7917dup	ENSP00000443130.1:n.377+7917dup
ENST00000542074.1:c.*46dup	ENSP00000469670.1:n.*46dup
ENST00000542794.5:c.*469dup	ENSP00000439983.1:n.*469dup
ENST00000543044.2:c.431dup	ENSP00000440219.1:p.Asp145ArgfsTer3
ENST00000543265.1:c.*90dup	ENSP00000443660.1:n.*90dup
ENST00000544025.5:n.465+7924dup
ENST00000544801.5:c.370+7924dup	ENSP00000442581.1:n.370+7924dup
ENST00000544880.1:n.374+7924dup
NM_017841.2:c.467dup , LRG_519t1:c.467dup	NP_060311.1:p.Asp157ArgfsTer3
NM_017841.4:c.467dup MANE Select	NP_060311.1:p.Asp157ArgfsTer3