Canonical Allele Identifier: CA380685420
Gene: SDHAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470652
ClinVar RCV Id: RCV001973318
dbSNP Id: rs1300630237

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61446018G>C , CM000673.2:g.61446018G>C GRCh38
NC_000011.9:g.61213490G>C , CM000673.1:g.61213490G>C GRCh37
NC_000011.8:g.60970066G>C NCBI36
NG_023393.1:g.20894G>C , LRG_519:g.20894G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.448G>C MANE Select ENSP00000301761.3:p.Glu150Gln
ENST00000301761.6:c.448G>C ENSP00000301761.2:p.Glu150Gln
ENST00000536670.5:n.396+7905G>C
ENST00000537782.5:c.*94G>C ENSP00000469951.1:n.*94G>C
ENST00000538594.5:c.370+7905G>C ENSP00000440939.1:n.370+7905G>C
ENST00000541135.5:c.377+7898G>C ENSP00000443130.1:n.377+7898G>C
ENST00000542074.1:c.*27G>C ENSP00000469670.1:n.*27G>C
ENST00000542794.5:c.*450G>C ENSP00000439983.1:n.*450G>C
ENST00000543044.2:c.412G>C ENSP00000440219.1:p.Glu138Gln
ENST00000543265.1:c.*71G>C ENSP00000443660.1:n.*71G>C
ENST00000544025.5:n.465+7905G>C
ENST00000544801.5:c.370+7905G>C ENSP00000442581.1:n.370+7905G>C
ENST00000544880.1:n.374+7905G>C
NM_017841.2:c.448G>C , LRG_519t1:c.448G>C NP_060311.1:p.Glu150Gln
NM_017841.4:c.448G>C MANE Select NP_060311.1:p.Glu150Gln