Canonical Allele Identifier: CA2580615704

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 1512967
• ClinVar RCV Id: RCV002023290
• dbSNP Id: rs1862132626

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446012_61446017dup , CM000673.2:g.61446012_61446017dup	GRCh38
NC_000011.9:g.61213484_61213489dup , CM000673.1:g.61213484_61213489dup	GRCh37
NC_000011.8:g.60970060_60970065dup	NCBI36
NG_023393.1:g.20888_20893dup , LRG_519:g.20888_20893dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.442_447dup MANE Select	ENSP00000301761.3:p.Lys149_Glu150insAsnLys
ENST00000301761.6:c.442_447dup	ENSP00000301761.2:p.Lys149_Glu150insAsnLys
ENST00000536670.5:n.396+7899_396+7904dup
ENST00000537782.5:c.*88_*93dup	ENSP00000469951.1:n.*88_*93dup
ENST00000538594.5:c.370+7899_370+7904dup	ENSP00000440939.1:n.370+7899_370+7904dup
ENST00000541135.5:c.377+7892_377+7897dup	ENSP00000443130.1:n.377+7892_377+7897dup
ENST00000542074.1:c.*21_*26dup	ENSP00000469670.1:n.*21_*26dup
ENST00000542794.5:c.*444_*449dup	ENSP00000439983.1:n.*444_*449dup
ENST00000543044.2:c.406_411dup	ENSP00000440219.1:p.Lys137_Glu138insAsnLys
ENST00000543265.1:c.*65_*70dup	ENSP00000443660.1:n.*65_*70dup
ENST00000544025.5:n.465+7899_465+7904dup
ENST00000544801.5:c.370+7899_370+7904dup	ENSP00000442581.1:n.370+7899_370+7904dup
ENST00000544880.1:n.374+7899_374+7904dup
NM_017841.2:c.442_447dup , LRG_519t1:c.442_447dup	NP_060311.1:p.Lys149_Glu150insAsnLys
NM_017841.4:c.442_447dup MANE Select	NP_060311.1:p.Lys149_Glu150insAsnLys