Canonical Allele Identifier: CA380685399
Gene: SDHAF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61446010A>G , CM000673.2:g.61446010A>G GRCh38
NC_000011.9:g.61213482A>G , CM000673.1:g.61213482A>G GRCh37
NC_000011.8:g.60970058A>G NCBI36
NG_023393.1:g.20886A>G , LRG_519:g.20886A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.440A>G MANE Select ENSP00000301761.3:p.Lys147Arg
ENST00000301761.6:c.440A>G ENSP00000301761.2:p.Lys147Arg
ENST00000536670.5:n.396+7897A>G
ENST00000537782.5:c.*86A>G ENSP00000469951.1:n.*86A>G
ENST00000538594.5:c.370+7897A>G ENSP00000440939.1:n.370+7897A>G
ENST00000541135.5:c.377+7890A>G ENSP00000443130.1:n.377+7890A>G
ENST00000542074.1:c.*19A>G ENSP00000469670.1:n.*19A>G
ENST00000542794.5:c.*442A>G ENSP00000439983.1:n.*442A>G
ENST00000543044.2:c.404A>G ENSP00000440219.1:p.Lys135Arg
ENST00000543265.1:c.*63A>G ENSP00000443660.1:n.*63A>G
ENST00000544025.5:n.465+7897A>G
ENST00000544801.5:c.370+7897A>G ENSP00000442581.1:n.370+7897A>G
ENST00000544880.1:n.374+7897A>G
NM_017841.2:c.440A>G , LRG_519t1:c.440A>G NP_060311.1:p.Lys147Arg
NM_017841.4:c.440A>G MANE Select NP_060311.1:p.Lys147Arg