Canonical Allele Identifier: CA380685697

Gene: SDHAF2

Linked Data

• MyVariant Identifiers: chr11:g.61213542G>T (hg19) ; chr11:g.61446070G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446070G>T , CM000673.2:g.61446070G>T	GRCh38
NC_000011.9:g.61213542G>T , CM000673.1:g.61213542G>T	GRCh37
NC_000011.8:g.60970118G>T	NCBI36
NG_023393.1:g.20946G>T , LRG_519:g.20946G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.500G>T MANE Select	ENSP00000301761.3:p.Ter167Leu
ENST00000301761.6:c.500G>T	ENSP00000301761.2:p.Ter167Leu
ENST00000536670.5:n.396+7957G>T
ENST00000538594.5:c.370+7957G>T	ENSP00000440939.1:n.370+7957G>T
ENST00000541135.5:c.377+7950G>T	ENSP00000443130.1:n.377+7950G>T
ENST00000542074.1:c.*79G>T	ENSP00000469670.1:n.*79G>T
ENST00000542794.5:c.*502G>T	ENSP00000439983.1:n.*502G>T
ENST00000543044.2:c.464G>T	ENSP00000440219.1:p.Ter155Leu
ENST00000543265.1:c.*123G>T	ENSP00000443660.1:n.*123G>T
ENST00000544025.5:n.465+7957G>T
ENST00000544801.5:c.370+7957G>T	ENSP00000442581.1:n.370+7957G>T
ENST00000544880.1:n.374+7957G>T
NM_017841.2:c.500G>T , LRG_519t1:c.500G>T	NP_060311.1:p.Ter167Leu
NM_017841.4:c.500G>T MANE Select	NP_060311.1:p.Ter167Leu