Canonical Allele Identifier: CA380685245

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 1735221
• ClinVar RCV Id: RCV002355294
• MyVariant Identifiers: chr11:g.61213423A>G (hg19) ; chr11:g.61445951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445951A>G , CM000673.2:g.61445951A>G	GRCh38
NC_000011.9:g.61213423A>G , CM000673.1:g.61213423A>G	GRCh37
NC_000011.8:g.60969999A>G	NCBI36
NG_023393.1:g.20827A>G , LRG_519:g.20827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.381A>G MANE Select	ENSP00000301761.3:p.Pro127=
ENST00000301761.6:c.381A>G	ENSP00000301761.2:p.Pro127=
ENST00000359614.9:c.*89A>G	ENSP00000352630.5:n.*89A>G
ENST00000536670.5:n.396+7838A>G
ENST00000537782.5:c.*27A>G	ENSP00000469951.1:n.*27A>G
ENST00000538594.5:c.370+7838A>G	ENSP00000440939.1:n.370+7838A>G
ENST00000541135.5:c.377+7831A>G	ENSP00000443130.1:n.377+7831A>G
ENST00000542074.1:c.47A>G	ENSP00000469670.1:p.Gln16Arg
ENST00000542794.5:c.*383A>G	ENSP00000439983.1:n.*383A>G
ENST00000543044.2:c.345A>G	ENSP00000440219.1:p.Pro115=
ENST00000543265.1:c.*4A>G	ENSP00000443660.1:n.*4A>G
ENST00000544025.5:n.465+7838A>G
ENST00000544801.5:c.370+7838A>G	ENSP00000442581.1:n.370+7838A>G
ENST00000544880.1:n.374+7838A>G
NM_017841.2:c.381A>G , LRG_519t1:c.381A>G	NP_060311.1:p.Pro127=
NM_017841.4:c.381A>G MANE Select	NP_060311.1:p.Pro127=