Canonical Allele Identifier: CA380685293

Gene: SDHAF2

Linked Data

• MyVariant Identifiers: chr11:g.61213440A>T (hg19) ; chr11:g.61445968A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445968A>T , CM000673.2:g.61445968A>T	GRCh38
NC_000011.9:g.61213440A>T , CM000673.1:g.61213440A>T	GRCh37
NC_000011.8:g.60970016A>T	NCBI36
NG_023393.1:g.20844A>T , LRG_519:g.20844A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.398A>T MANE Select	ENSP00000301761.3:p.Glu133Val
ENST00000301761.6:c.398A>T	ENSP00000301761.2:p.Glu133Val
ENST00000359614.9:c.*106A>T	ENSP00000352630.5:n.*106A>T
ENST00000536670.5:n.396+7855A>T
ENST00000537782.5:c.*44A>T	ENSP00000469951.1:n.*44A>T
ENST00000538594.5:c.370+7855A>T	ENSP00000440939.1:n.370+7855A>T
ENST00000541135.5:c.377+7848A>T	ENSP00000443130.1:n.377+7848A>T
ENST00000542074.1:c.64A>T	ENSP00000469670.1:p.Lys22Ter
ENST00000542794.5:c.*400A>T	ENSP00000439983.1:n.*400A>T
ENST00000543044.2:c.362A>T	ENSP00000440219.1:p.Glu121Val
ENST00000543265.1:c.*21A>T	ENSP00000443660.1:n.*21A>T
ENST00000544025.5:n.465+7855A>T
ENST00000544801.5:c.370+7855A>T	ENSP00000442581.1:n.370+7855A>T
ENST00000544880.1:n.374+7855A>T
NM_017841.2:c.398A>T , LRG_519t1:c.398A>T	NP_060311.1:p.Glu133Val
NM_017841.4:c.398A>T MANE Select	NP_060311.1:p.Glu133Val