Canonical Allele Identifier: CA380685257
Gene: SDHAF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61445956C>A , CM000673.2:g.61445956C>A GRCh38
NC_000011.9:g.61213428C>A , CM000673.1:g.61213428C>A GRCh37
NC_000011.8:g.60970004C>A NCBI36
NG_023393.1:g.20832C>A , LRG_519:g.20832C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.386C>A MANE Select ENSP00000301761.3:p.Pro129Gln
ENST00000301761.6:c.386C>A ENSP00000301761.2:p.Pro129Gln
ENST00000359614.9:c.*94C>A ENSP00000352630.5:n.*94C>A
ENST00000536670.5:n.396+7843C>A
ENST00000537782.5:c.*32C>A ENSP00000469951.1:n.*32C>A
ENST00000538594.5:c.370+7843C>A ENSP00000440939.1:n.370+7843C>A
ENST00000541135.5:c.377+7836C>A ENSP00000443130.1:n.377+7836C>A
ENST00000542074.1:c.52C>A ENSP00000469670.1:p.Gln18Lys
ENST00000542794.5:c.*388C>A ENSP00000439983.1:n.*388C>A
ENST00000543044.2:c.350C>A ENSP00000440219.1:p.Pro117Gln
ENST00000543265.1:c.*9C>A ENSP00000443660.1:n.*9C>A
ENST00000544025.5:n.465+7843C>A
ENST00000544801.5:c.370+7843C>A ENSP00000442581.1:n.370+7843C>A
ENST00000544880.1:n.374+7843C>A
NM_017841.2:c.386C>A , LRG_519t1:c.386C>A NP_060311.1:p.Pro129Gln
NM_017841.4:c.386C>A MANE Select NP_060311.1:p.Pro129Gln