Canonical Allele Identifier: CA380685357

Gene: SDHAF2

Linked Data

• MyVariant Identifiers: chr11:g.61213464G>C (hg19) ; chr11:g.61445992G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.422G>C MANE Select	ENSP00000301761.3:p.Arg141Thr
ENST00000301761.6:c.422G>C	ENSP00000301761.2:p.Arg141Thr
ENST00000359614.9:c.*130G>C	ENSP00000352630.5:n.*130G>C
ENST00000536670.5:n.396+7879G>C
ENST00000537782.5:c.*68G>C	ENSP00000469951.1:n.*68G>C
ENST00000538594.5:c.370+7879G>C	ENSP00000440939.1:n.370+7879G>C
ENST00000541135.5:c.377+7872G>C	ENSP00000443130.1:n.377+7872G>C
ENST00000542074.1:c.*1G>C	ENSP00000469670.1:n.*1G>C
ENST00000542794.5:c.*424G>C	ENSP00000439983.1:n.*424G>C
ENST00000543044.2:c.386G>C	ENSP00000440219.1:p.Arg129Thr
ENST00000543265.1:c.*45G>C	ENSP00000443660.1:n.*45G>C
ENST00000544025.5:n.465+7879G>C
ENST00000544801.5:c.370+7879G>C	ENSP00000442581.1:n.370+7879G>C
ENST00000544880.1:n.374+7879G>C
NM_017841.2:c.422G>C , LRG_519t1:c.422G>C	NP_060311.1:p.Arg141Thr
NM_017841.4:c.422G>C MANE Select	NP_060311.1:p.Arg141Thr