Canonical Allele Identifier: CA380685539

Gene: SDHAF2

Linked Data

• MyVariant Identifiers: chr11:g.61213515T>G (hg19) ; chr11:g.61446043T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446043T>G , CM000673.2:g.61446043T>G	GRCh38
NC_000011.9:g.61213515T>G , CM000673.1:g.61213515T>G	GRCh37
NC_000011.8:g.60970091T>G	NCBI36
NG_023393.1:g.20919T>G , LRG_519:g.20919T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.473T>G MANE Select	ENSP00000301761.3:p.Leu158Arg
ENST00000301761.6:c.473T>G	ENSP00000301761.2:p.Leu158Arg
ENST00000536670.5:n.396+7930T>G
ENST00000537782.5:c.*119T>G	ENSP00000469951.1:n.*119T>G
ENST00000538594.5:c.370+7930T>G	ENSP00000440939.1:n.370+7930T>G
ENST00000541135.5:c.377+7923T>G	ENSP00000443130.1:n.377+7923T>G
ENST00000542074.1:c.*52T>G	ENSP00000469670.1:n.*52T>G
ENST00000542794.5:c.*475T>G	ENSP00000439983.1:n.*475T>G
ENST00000543044.2:c.437T>G	ENSP00000440219.1:p.Leu146Arg
ENST00000543265.1:c.*96T>G	ENSP00000443660.1:n.*96T>G
ENST00000544025.5:n.465+7930T>G
ENST00000544801.5:c.370+7930T>G	ENSP00000442581.1:n.370+7930T>G
ENST00000544880.1:n.374+7930T>G
NM_017841.2:c.473T>G , LRG_519t1:c.473T>G	NP_060311.1:p.Leu158Arg
NM_017841.4:c.473T>G MANE Select	NP_060311.1:p.Leu158Arg