Canonical Allele Identifier: CA380685356

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 1493689
• ClinVar RCV Id: RCV001986670 ; RCV002331584
• dbSNP Id: rs2134902022
• MyVariant Identifiers: chr11:g.61213464G>A (hg19) ; chr11:g.61445992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445992G>A , CM000673.2:g.61445992G>A	GRCh38
NC_000011.9:g.61213464G>A , CM000673.1:g.61213464G>A	GRCh37
NC_000011.8:g.60970040G>A	NCBI36
NG_023393.1:g.20868G>A , LRG_519:g.20868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.422G>A MANE Select	ENSP00000301761.3:p.Arg141Lys
ENST00000301761.6:c.422G>A	ENSP00000301761.2:p.Arg141Lys
ENST00000359614.9:c.*130G>A	ENSP00000352630.5:n.*130G>A
ENST00000536670.5:n.396+7879G>A
ENST00000537782.5:c.*68G>A	ENSP00000469951.1:n.*68G>A
ENST00000538594.5:c.370+7879G>A	ENSP00000440939.1:n.370+7879G>A
ENST00000541135.5:c.377+7872G>A	ENSP00000443130.1:n.377+7872G>A
ENST00000542074.1:c.*1G>A	ENSP00000469670.1:n.*1G>A
ENST00000542794.5:c.*424G>A	ENSP00000439983.1:n.*424G>A
ENST00000543044.2:c.386G>A	ENSP00000440219.1:p.Arg129Lys
ENST00000543265.1:c.*45G>A	ENSP00000443660.1:n.*45G>A
ENST00000544025.5:n.465+7879G>A
ENST00000544801.5:c.370+7879G>A	ENSP00000442581.1:n.370+7879G>A
ENST00000544880.1:n.374+7879G>A
NM_017841.2:c.422G>A , LRG_519t1:c.422G>A	NP_060311.1:p.Arg141Lys
NM_017841.4:c.422G>A MANE Select	NP_060311.1:p.Arg141Lys