Canonical Allele Identifier: CA2580084346
Gene: SDHAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2020802
ClinVar RCV Id: RCV002857554

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61445926_61445928del , CM000673.2:g.61445926_61445928del GRCh38
NC_000011.9:g.61213398_61213400del , CM000673.1:g.61213398_61213400del GRCh37
NC_000011.8:g.60969974_60969976del NCBI36
NG_023393.1:g.20802_20804del , LRG_519:g.20802_20804del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.371-15_371-13del MANE Select ENSP00000301761.3:n.371-15_371-13del
ENST00000301761.6:c.371-15_371-13del ENSP00000301761.2:n.371-15_371-13del
ENST00000359614.9:c.*79-15_*79-13del ENSP00000352630.5:n.*79-15_*79-13del
ENST00000536670.5:n.396+7813_396+7815del
ENST00000537782.5:c.*17-15_*17-13del ENSP00000469951.1:n.*17-15_*17-13del
ENST00000538594.5:c.370+7813_370+7815del ENSP00000440939.1:n.370+7813_370+7815del
ENST00000541135.5:c.377+7806_377+7808del ENSP00000443130.1:n.377+7806_377+7808del
ENST00000542074.1:c.37-15_37-13del ENSP00000469670.1:n.37-15_37-13del
ENST00000542794.5:c.*373-15_*373-13del ENSP00000439983.1:n.*373-15_*373-13del
ENST00000543044.2:c.335-15_335-13del ENSP00000440219.1:n.335-15_335-13del
ENST00000543265.1:c.261-15_261-13del ENSP00000443660.1:n.261-15_261-13del
ENST00000544025.5:n.465+7813_465+7815del
ENST00000544801.5:c.370+7813_370+7815del ENSP00000442581.1:n.370+7813_370+7815del
ENST00000544880.1:n.374+7813_374+7815del
NM_017841.2:c.371-15_371-13del , LRG_519t1:c.371-15_371-13del NP_060311.1:n.371-15_371-13del
NM_017841.4:c.371-15_371-13del MANE Select NP_060311.1:n.371-15_371-13del