Canonical Allele Identifier: CA1139661971

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 943078
• ClinVar RCV Id: RCV001213191 ; RCV003163622
• dbSNP Id: rs1862132755
• gnomAD v4: 11-61446010-AAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446014_61446017del , CM000673.2:g.61446014_61446017del	GRCh38
NC_000011.9:g.61213486_61213489del , CM000673.1:g.61213486_61213489del	GRCh37
NC_000011.8:g.60970062_60970065del	NCBI36
NG_023393.1:g.20890_20893del , LRG_519:g.20890_20893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.444_447del MANE Select	ENSP00000301761.3:p.Asn148LysfsTer?
ENST00000301761.6:c.444_447del	ENSP00000301761.2:p.Asn148LysfsTer?
ENST00000536670.5:n.396+7901_396+7904del
ENST00000537782.5:c.*90_*93del	ENSP00000469951.1:n.*90_*93del
ENST00000538594.5:c.370+7901_370+7904del	ENSP00000440939.1:n.370+7901_370+7904del
ENST00000541135.5:c.377+7894_377+7897del	ENSP00000443130.1:n.377+7894_377+7897del
ENST00000542074.1:c.*23_*26del	ENSP00000469670.1:n.*23_*26del
ENST00000542794.5:c.*446_*449del	ENSP00000439983.1:n.*446_*449del
ENST00000543044.2:c.408_411del	ENSP00000440219.1:p.Asn136LysfsTer?
ENST00000543265.1:c.*67_*70del	ENSP00000443660.1:n.*67_*70del
ENST00000544025.5:n.465+7901_465+7904del
ENST00000544801.5:c.370+7901_370+7904del	ENSP00000442581.1:n.370+7901_370+7904del
ENST00000544880.1:n.374+7901_374+7904del
NM_017841.2:c.444_447del , LRG_519t1:c.444_447del	NP_060311.1:p.Asn148LysfsTer?
NM_017841.4:c.444_447del MANE Select	NP_060311.1:p.Asn148LysfsTer?