Canonical Allele Identifier: CA380685347

Gene: SDHAF2

Linked Data

• MyVariant Identifiers: chr11:g.61213459G>T (hg19) ; chr11:g.61445987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445987G>T , CM000673.2:g.61445987G>T	GRCh38
NC_000011.9:g.61213459G>T , CM000673.1:g.61213459G>T	GRCh37
NC_000011.8:g.60970035G>T	NCBI36
NG_023393.1:g.20863G>T , LRG_519:g.20863G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.417G>T MANE Select	ENSP00000301761.3:p.Leu139=
ENST00000301761.6:c.417G>T	ENSP00000301761.2:p.Leu139=
ENST00000359614.9:c.*125G>T	ENSP00000352630.5:n.*125G>T
ENST00000536670.5:n.396+7874G>T
ENST00000537782.5:c.*63G>T	ENSP00000469951.1:n.*63G>T
ENST00000538594.5:c.370+7874G>T	ENSP00000440939.1:n.370+7874G>T
ENST00000541135.5:c.377+7867G>T	ENSP00000443130.1:n.377+7867G>T
ENST00000542074.1:c.83G>T	ENSP00000469670.1:p.Cys28Phe
ENST00000542794.5:c.*419G>T	ENSP00000439983.1:n.*419G>T
ENST00000543044.2:c.381G>T	ENSP00000440219.1:p.Leu127=
ENST00000543265.1:c.*40G>T	ENSP00000443660.1:n.*40G>T
ENST00000544025.5:n.465+7874G>T
ENST00000544801.5:c.370+7874G>T	ENSP00000442581.1:n.370+7874G>T
ENST00000544880.1:n.374+7874G>T
NM_017841.2:c.417G>T , LRG_519t1:c.417G>T	NP_060311.1:p.Leu139=
NM_017841.4:c.417G>T MANE Select	NP_060311.1:p.Leu139=