Canonical Allele Identifier: CA380684203

Gene: SDHAF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61438090G>T , CM000673.2:g.61438090G>T	GRCh38
NC_000011.9:g.61205562G>T , CM000673.1:g.61205562G>T	GRCh37
NC_000011.8:g.60962138G>T	NCBI36
NG_023393.1:g.12966G>T , LRG_519:g.12966G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017841.4:c.347G>T MANE Select	NP_060311.1:p.Trp116Leu
ENST00000301761.7:c.347G>T MANE Select	ENSP00000301761.3:p.Trp116Leu
NM_017841.2:c.347G>T , LRG_519t1:c.347G>T	NP_060311.1:p.Trp116Leu
ENST00000301761.6:c.347G>T	ENSP00000301761.2:p.Trp116Leu
ENST00000359614.9:c.347G>T	ENSP00000352630.5:p.Trp116Leu
ENST00000534878.5:c.347G>T	ENSP00000471030.1:p.Trp116Leu
ENST00000536250.1:c.*349G>T	ENSP00000471120.1:n.*349G>T
ENST00000536670.5:n.373G>T
ENST00000537782.5:c.347G>T	ENSP00000469951.1:p.Trp116Leu
ENST00000538594.5:c.347G>T	ENSP00000440939.1:p.Trp116Leu
ENST00000541135.5:c.347G>T	ENSP00000443130.1:p.Trp116Leu
ENST00000542074.1:c.37-7851G>T	ENSP00000469670.1:n.37-7851G>T
ENST00000542794.5:c.*349G>T	ENSP00000439983.1:n.*349G>T
ENST00000543044.2:c.311G>T	ENSP00000440219.1:p.Trp104Leu
ENST00000543265.1:c.260+242G>T	ENSP00000443660.1:n.260+242G>T
ENST00000544025.5:n.442G>T
ENST00000544801.5:c.347G>T	ENSP00000442581.1:p.Trp116Leu
ENST00000544880.1:n.351G>T