Canonical Allele Identifier: CA2739270470
Gene: SDHAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2834418
ClinVar RCV Id: RCV003634982

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61445966del , CM000673.2:g.61445966del GRCh38
NC_000011.9:g.61213438del , CM000673.1:g.61213438del GRCh37
NC_000011.8:g.60970014del NCBI36
NG_023393.1:g.20842del , LRG_519:g.20842del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.396del MANE Select ENSP00000301761.3:p.Phe132LeufsTer9
ENST00000301761.6:c.396del ENSP00000301761.2:p.Phe132LeufsTer9
ENST00000359614.9:c.*104del ENSP00000352630.5:n.*104del
ENST00000536670.5:n.396+7853del
ENST00000537782.5:c.*42del ENSP00000469951.1:n.*42del
ENST00000538594.5:c.370+7853del ENSP00000440939.1:n.370+7853del
ENST00000541135.5:c.377+7846del ENSP00000443130.1:n.377+7846del
ENST00000542074.1:c.62del ENSP00000469670.1:p.Leu21Ter
ENST00000542794.5:c.*398del ENSP00000439983.1:n.*398del
ENST00000543044.2:c.360del ENSP00000440219.1:p.Phe120LeufsTer9
ENST00000543265.1:c.*19del ENSP00000443660.1:n.*19del
ENST00000544025.5:n.465+7853del
ENST00000544801.5:c.370+7853del ENSP00000442581.1:n.370+7853del
ENST00000544880.1:n.374+7853del
NM_017841.2:c.396del , LRG_519t1:c.396del NP_060311.1:p.Phe132LeufsTer9
NM_017841.4:c.396del MANE Select NP_060311.1:p.Phe132LeufsTer9