Canonical Allele Identifier: CA380685683

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 2184246
• ClinVar RCV Id: RCV002600025
• dbSNP Id: rs768048172
• gnomAD v4: 11-61446067-G-T
• MyVariant Identifiers: chr11:g.61213539G>T (hg19) ; chr11:g.61446067G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446067G>T , CM000673.2:g.61446067G>T	GRCh38
NC_000011.9:g.61213539G>T , CM000673.1:g.61213539G>T	GRCh37
NC_000011.8:g.60970115G>T	NCBI36
NG_023393.1:g.20943G>T , LRG_519:g.20943G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.497G>T MANE Select	ENSP00000301761.3:p.Arg166Leu
ENST00000301761.6:c.497G>T	ENSP00000301761.2:p.Arg166Leu
ENST00000536670.5:n.396+7954G>T
ENST00000538594.5:c.370+7954G>T	ENSP00000440939.1:n.370+7954G>T
ENST00000541135.5:c.377+7947G>T	ENSP00000443130.1:n.377+7947G>T
ENST00000542074.1:c.*76G>T	ENSP00000469670.1:n.*76G>T
ENST00000542794.5:c.*499G>T	ENSP00000439983.1:n.*499G>T
ENST00000543044.2:c.461G>T	ENSP00000440219.1:p.Arg154Leu
ENST00000543265.1:c.*120G>T	ENSP00000443660.1:n.*120G>T
ENST00000544025.5:n.465+7954G>T
ENST00000544801.5:c.370+7954G>T	ENSP00000442581.1:n.370+7954G>T
ENST00000544880.1:n.374+7954G>T
NM_017841.2:c.497G>T , LRG_519t1:c.497G>T	NP_060311.1:p.Arg166Leu
NM_017841.4:c.497G>T MANE Select	NP_060311.1:p.Arg166Leu