Canonical Allele Identifier: CA1977300956

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 937235
• ClinVar RCV Id: RCV001206206
• dbSNP Id: rs1862132626

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446012_61446017del , CM000673.2:g.61446012_61446017del	GRCh38
NC_000011.9:g.61213484_61213489del , CM000673.1:g.61213484_61213489del	GRCh37
NC_000011.8:g.60970060_60970065del	NCBI36
NG_023393.1:g.20888_20893del , LRG_519:g.20888_20893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.442_447del MANE Select	ENSP00000301761.3:p.Asn148_Lys149del
ENST00000301761.6:c.442_447del	ENSP00000301761.2:p.Asn148_Lys149del
ENST00000536670.5:n.396+7899_396+7904del
ENST00000537782.5:c.*88_*93del	ENSP00000469951.1:n.*88_*93del
ENST00000538594.5:c.370+7899_370+7904del	ENSP00000440939.1:n.370+7899_370+7904del
ENST00000541135.5:c.377+7892_377+7897del	ENSP00000443130.1:n.377+7892_377+7897del
ENST00000542074.1:c.*21_*26del	ENSP00000469670.1:n.*21_*26del
ENST00000542794.5:c.*444_*449del	ENSP00000439983.1:n.*444_*449del
ENST00000543044.2:c.406_411del	ENSP00000440219.1:p.Asn136_Lys137del
ENST00000543265.1:c.*65_*70del	ENSP00000443660.1:n.*65_*70del
ENST00000544025.5:n.465+7899_465+7904del
ENST00000544801.5:c.370+7899_370+7904del	ENSP00000442581.1:n.370+7899_370+7904del
ENST00000544880.1:n.374+7899_374+7904del
NM_017841.2:c.442_447del , LRG_519t1:c.442_447del	NP_060311.1:p.Asn148_Lys149del
NM_017841.4:c.442_447del MANE Select	NP_060311.1:p.Asn148_Lys149del