Canonical Allele Identifier: CA380683533
Gene: SDHAF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61437775A>T , CM000673.2:g.61437775A>T GRCh38
NC_000011.9:g.61205247A>T , CM000673.1:g.61205247A>T GRCh37
NC_000011.8:g.60961823A>T NCBI36
NG_023393.1:g.12651A>T , LRG_519:g.12651A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.187A>T MANE Select ENSP00000301761.3:p.Ile63Leu
ENST00000301761.6:c.187A>T ENSP00000301761.2:p.Ile63Leu
ENST00000359614.9:c.187A>T ENSP00000352630.5:p.Ile63Leu
ENST00000534878.5:c.187A>T ENSP00000471030.1:p.Ile63Leu
ENST00000536250.1:c.*189A>T ENSP00000471120.1:n.*189A>T
ENST00000536670.5:n.213A>T
ENST00000537782.5:c.187A>T ENSP00000469951.1:p.Ile63Leu
ENST00000538594.5:c.187A>T ENSP00000440939.1:p.Ile63Leu
ENST00000541135.5:c.187A>T ENSP00000443130.1:p.Ile63Leu
ENST00000542074.1:c.36+7593A>T ENSP00000469670.1:n.36+7593A>T
ENST00000542794.5:c.*189A>T ENSP00000439983.1:n.*189A>T
ENST00000543044.2:c.151A>T ENSP00000440219.1:p.Ile51Leu
ENST00000543265.1:c.187A>T ENSP00000443660.1:p.Ile63Leu
ENST00000544025.5:n.282A>T
ENST00000544801.5:c.187A>T ENSP00000442581.1:p.Ile63Leu
ENST00000544880.1:n.191A>T
NM_017841.2:c.187A>T , LRG_519t1:c.187A>T NP_060311.1:p.Ile63Leu
NM_017841.4:c.187A>T MANE Select NP_060311.1:p.Ile63Leu