Canonical Allele Identifier: CA380683663

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 1786379
• ClinVar RCV Id: RCV002417756 ; RCV003098642
• dbSNP Id: rs1439839466
• gnomAD v2: 11-61205272-T-C
• MyVariant Identifiers: chr11:g.61205272T>C (hg19) ; chr11:g.61437800T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61437800T>C , CM000673.2:g.61437800T>C	GRCh38
NC_000011.9:g.61205272T>C , CM000673.1:g.61205272T>C	GRCh37
NC_000011.8:g.60961848T>C	NCBI36
NG_023393.1:g.12676T>C , LRG_519:g.12676T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.212T>C MANE Select	ENSP00000301761.3:p.Leu71Pro
ENST00000301761.6:c.212T>C	ENSP00000301761.2:p.Leu71Pro
ENST00000359614.9:c.212T>C	ENSP00000352630.5:p.Leu71Pro
ENST00000534878.5:c.212T>C	ENSP00000471030.1:p.Leu71Pro
ENST00000536250.1:c.*214T>C	ENSP00000471120.1:n.*214T>C
ENST00000536670.5:n.238T>C
ENST00000537782.5:c.212T>C	ENSP00000469951.1:p.Leu71Pro
ENST00000538594.5:c.212T>C	ENSP00000440939.1:p.Leu71Pro
ENST00000541135.5:c.212T>C	ENSP00000443130.1:p.Leu71Pro
ENST00000542074.1:c.36+7618T>C	ENSP00000469670.1:n.36+7618T>C
ENST00000542794.5:c.*214T>C	ENSP00000439983.1:n.*214T>C
ENST00000543044.2:c.176T>C	ENSP00000440219.1:p.Leu59Pro
ENST00000543265.1:c.212T>C	ENSP00000443660.1:p.Leu71Pro
ENST00000544025.5:n.307T>C
ENST00000544801.5:c.212T>C	ENSP00000442581.1:p.Leu71Pro
ENST00000544880.1:n.216T>C
NM_017841.2:c.212T>C , LRG_519t1:c.212T>C	NP_060311.1:p.Leu71Pro
NM_017841.4:c.212T>C MANE Select	NP_060311.1:p.Leu71Pro