Canonical Allele Identifier: CA380685621

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 825254
• ClinVar RCV Id: RCV001023194
• dbSNP Id: rs1590769371
• MyVariant Identifiers: chr11:g.61213529G>C (hg19) ; chr11:g.61446057G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446057G>C , CM000673.2:g.61446057G>C	GRCh38
NC_000011.9:g.61213529G>C , CM000673.1:g.61213529G>C	GRCh37
NC_000011.8:g.60970105G>C	NCBI36
NG_023393.1:g.20933G>C , LRG_519:g.20933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.487G>C MANE Select	ENSP00000301761.3:p.Glu163Gln
ENST00000301761.6:c.487G>C	ENSP00000301761.2:p.Glu163Gln
ENST00000536670.5:n.396+7944G>C
ENST00000537782.5:c.*133G>C	ENSP00000469951.1:n.*133G>C
ENST00000538594.5:c.370+7944G>C	ENSP00000440939.1:n.370+7944G>C
ENST00000541135.5:c.377+7937G>C	ENSP00000443130.1:n.377+7937G>C
ENST00000542074.1:c.*66G>C	ENSP00000469670.1:n.*66G>C
ENST00000542794.5:c.*489G>C	ENSP00000439983.1:n.*489G>C
ENST00000543044.2:c.451G>C	ENSP00000440219.1:p.Glu151Gln
ENST00000543265.1:c.*110G>C	ENSP00000443660.1:n.*110G>C
ENST00000544025.5:n.465+7944G>C
ENST00000544801.5:c.370+7944G>C	ENSP00000442581.1:n.370+7944G>C
ENST00000544880.1:n.374+7944G>C
NM_017841.2:c.487G>C , LRG_519t1:c.487G>C	NP_060311.1:p.Glu163Gln
NM_017841.4:c.487G>C MANE Select	NP_060311.1:p.Glu163Gln