Canonical Allele Identifier: CA017320
Gene: SDHAF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 401
ClinVar RCV Id: RCV000000428 RCV000165971 RCV000519058 RCV000639339
dbSNP Id: rs113560320
MyVariant Identifiers: chr11:g.61205292G>A (hg19) chr11:g.61437820G>A (hg38)
PubMed: PMID:6286462 PMID:19628817 PMID:20071235 PMID:20301715 PMID:21348866 PMID:22241717
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61437820G>A , CM000673.2:g.61437820G>A GRCh38
NC_000011.9:g.61205292G>A , CM000673.1:g.61205292G>A GRCh37
NC_000011.8:g.60961868G>A NCBI36
NG_023393.1:g.12696G>A , LRG_519:g.12696G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301761.7:c.232G>A MANE Select ENSP00000301761.3:p.Gly78Arg
ENST00000301761.6:c.232G>A ENSP00000301761.2:p.Gly78Arg
ENST00000359614.9:c.232G>A ENSP00000352630.5:p.Gly78Arg
ENST00000534878.5:c.232G>A ENSP00000471030.1:p.Gly78Arg
ENST00000536250.1:c.*234G>A ENSP00000471120.1:n.*234G>A
ENST00000536670.5:n.258G>A
ENST00000537782.5:c.232G>A ENSP00000469951.1:p.Gly78Arg
ENST00000538594.5:c.232G>A ENSP00000440939.1:p.Gly78Arg
ENST00000541135.5:c.232G>A ENSP00000443130.1:p.Gly78Arg
ENST00000542074.1:c.36+7638G>A ENSP00000469670.1:n.36+7638G>A
ENST00000542794.5:c.*234G>A ENSP00000439983.1:n.*234G>A
ENST00000543044.2:c.196G>A ENSP00000440219.1:p.Gly66Arg
ENST00000543265.1:c.232G>A ENSP00000443660.1:p.Gly78Arg
ENST00000544025.5:n.327G>A
ENST00000544801.5:c.232G>A ENSP00000442581.1:p.Gly78Arg
ENST00000544880.1:n.236G>A
NM_017841.2:c.232G>A , LRG_519t1:c.232G>A NP_060311.1:p.Gly78Arg
NM_017841.4:c.232G>A MANE Select NP_060311.1:p.Gly78Arg
Search 100 bp 5'
Search 100 bp 3'