Canonical Allele Identifier: CA474523524

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 1079351
• ClinVar RCV Id: RCV001394623 ; RCV002341843
• dbSNP Id: rs2134902088
• gnomAD v4: 11-61446026-A-G
• MyVariant Identifiers: chr11:g.61213498A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446026A>G , CM000673.2:g.61446026A>G	GRCh38
NC_000011.9:g.61213498A>G , CM000673.1:g.61213498A>G	GRCh37
NC_000011.8:g.60970074A>G	NCBI36
NG_023393.1:g.20902A>G , LRG_519:g.20902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.456A>G MANE Select	ENSP00000301761.3:p.Arg152=
ENST00000301761.6:c.456A>G	ENSP00000301761.2:p.Arg152=
ENST00000536670.5:n.396+7913A>G
ENST00000537782.5:c.*102A>G	ENSP00000469951.1:n.*102A>G
ENST00000538594.5:c.370+7913A>G	ENSP00000440939.1:n.370+7913A>G
ENST00000541135.5:c.377+7906A>G	ENSP00000443130.1:n.377+7906A>G
ENST00000542074.1:c.*35A>G	ENSP00000469670.1:n.*35A>G
ENST00000542794.5:c.*458A>G	ENSP00000439983.1:n.*458A>G
ENST00000543044.2:c.420A>G	ENSP00000440219.1:p.Arg140=
ENST00000543265.1:c.*79A>G	ENSP00000443660.1:n.*79A>G
ENST00000544025.5:n.465+7913A>G
ENST00000544801.5:c.370+7913A>G	ENSP00000442581.1:n.370+7913A>G
ENST00000544880.1:n.374+7913A>G
NM_017841.2:c.456A>G , LRG_519t1:c.456A>G	NP_060311.1:p.Arg152=
NM_017841.4:c.456A>G MANE Select	NP_060311.1:p.Arg152=