Canonical Allele Identifier: CA380685348

Gene: SDHAF2

Linked Data

• MyVariant Identifiers: chr11:g.61213460C>A (hg19) ; chr11:g.61445988C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445988C>A , CM000673.2:g.61445988C>A	GRCh38
NC_000011.9:g.61213460C>A , CM000673.1:g.61213460C>A	GRCh37
NC_000011.8:g.60970036C>A	NCBI36
NG_023393.1:g.20864C>A , LRG_519:g.20864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.418C>A MANE Select	ENSP00000301761.3:p.Leu140Met
ENST00000301761.6:c.418C>A	ENSP00000301761.2:p.Leu140Met
ENST00000359614.9:c.*126C>A	ENSP00000352630.5:n.*126C>A
ENST00000536670.5:n.396+7875C>A
ENST00000537782.5:c.*64C>A	ENSP00000469951.1:n.*64C>A
ENST00000538594.5:c.370+7875C>A	ENSP00000440939.1:n.370+7875C>A
ENST00000541135.5:c.377+7868C>A	ENSP00000443130.1:n.377+7868C>A
ENST00000542074.1:c.84C>A	ENSP00000469670.1:p.Cys28Ter
ENST00000542794.5:c.*420C>A	ENSP00000439983.1:n.*420C>A
ENST00000543044.2:c.382C>A	ENSP00000440219.1:p.Leu128Met
ENST00000543265.1:c.*41C>A	ENSP00000443660.1:n.*41C>A
ENST00000544025.5:n.465+7875C>A
ENST00000544801.5:c.370+7875C>A	ENSP00000442581.1:n.370+7875C>A
ENST00000544880.1:n.374+7875C>A
NM_017841.2:c.418C>A , LRG_519t1:c.418C>A	NP_060311.1:p.Leu140Met
NM_017841.4:c.418C>A MANE Select	NP_060311.1:p.Leu140Met