Canonical Allele Identifier: CA380685585
Gene: SDHAF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61446051C>A , CM000673.2:g.61446051C>A GRCh38
NC_000011.9:g.61213523C>A , CM000673.1:g.61213523C>A GRCh37
NC_000011.8:g.60970099C>A NCBI36
NG_023393.1:g.20927C>A , LRG_519:g.20927C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.481C>A MANE Select ENSP00000301761.3:p.Leu161Ile
ENST00000301761.6:c.481C>A ENSP00000301761.2:p.Leu161Ile
ENST00000536670.5:n.396+7938C>A
ENST00000537782.5:c.*127C>A ENSP00000469951.1:n.*127C>A
ENST00000538594.5:c.370+7938C>A ENSP00000440939.1:n.370+7938C>A
ENST00000541135.5:c.377+7931C>A ENSP00000443130.1:n.377+7931C>A
ENST00000542074.1:c.*60C>A ENSP00000469670.1:n.*60C>A
ENST00000542794.5:c.*483C>A ENSP00000439983.1:n.*483C>A
ENST00000543044.2:c.445C>A ENSP00000440219.1:p.Leu149Ile
ENST00000543265.1:c.*104C>A ENSP00000443660.1:n.*104C>A
ENST00000544025.5:n.465+7938C>A
ENST00000544801.5:c.370+7938C>A ENSP00000442581.1:n.370+7938C>A
ENST00000544880.1:n.374+7938C>A
NM_017841.2:c.481C>A , LRG_519t1:c.481C>A NP_060311.1:p.Leu161Ile
NM_017841.4:c.481C>A MANE Select NP_060311.1:p.Leu161Ile