Canonical Allele Identifier: CA380685595
Gene: SDHAF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61446052T>C , CM000673.2:g.61446052T>C GRCh38
NC_000011.9:g.61213524T>C , CM000673.1:g.61213524T>C GRCh37
NC_000011.8:g.60970100T>C NCBI36
NG_023393.1:g.20928T>C , LRG_519:g.20928T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.482T>C MANE Select ENSP00000301761.3:p.Leu161Pro
ENST00000301761.6:c.482T>C ENSP00000301761.2:p.Leu161Pro
ENST00000536670.5:n.396+7939T>C
ENST00000537782.5:c.*128T>C ENSP00000469951.1:n.*128T>C
ENST00000538594.5:c.370+7939T>C ENSP00000440939.1:n.370+7939T>C
ENST00000541135.5:c.377+7932T>C ENSP00000443130.1:n.377+7932T>C
ENST00000542074.1:c.*61T>C ENSP00000469670.1:n.*61T>C
ENST00000542794.5:c.*484T>C ENSP00000439983.1:n.*484T>C
ENST00000543044.2:c.446T>C ENSP00000440219.1:p.Leu149Pro
ENST00000543265.1:c.*105T>C ENSP00000443660.1:n.*105T>C
ENST00000544025.5:n.465+7939T>C
ENST00000544801.5:c.370+7939T>C ENSP00000442581.1:n.370+7939T>C
ENST00000544880.1:n.374+7939T>C
NM_017841.2:c.482T>C , LRG_519t1:c.482T>C NP_060311.1:p.Leu161Pro
NM_017841.4:c.482T>C MANE Select NP_060311.1:p.Leu161Pro