Canonical Allele Identifier: CA2580084362

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 2033530
• ClinVar RCV Id: RCV002872443
• gnomAD v4: 11-61437988-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61437988T>C , CM000673.2:g.61437988T>C	GRCh38
NC_000011.9:g.61205460T>C , CM000673.1:g.61205460T>C	GRCh37
NC_000011.8:g.60962036T>C	NCBI36
NG_023393.1:g.12864T>C , LRG_519:g.12864T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.261-16T>C MANE Select	ENSP00000301761.3:n.261-16T>C
ENST00000301761.6:c.261-16T>C	ENSP00000301761.2:n.261-16T>C
ENST00000359614.9:c.261-16T>C	ENSP00000352630.5:n.261-16T>C
ENST00000534878.5:c.261-16T>C	ENSP00000471030.1:n.261-16T>C
ENST00000536250.1:c.*263-16T>C	ENSP00000471120.1:n.*263-16T>C
ENST00000536670.5:n.287-16T>C
ENST00000537782.5:c.261-16T>C	ENSP00000469951.1:n.261-16T>C
ENST00000538594.5:c.261-16T>C	ENSP00000440939.1:n.261-16T>C
ENST00000541135.5:c.261-16T>C	ENSP00000443130.1:n.261-16T>C
ENST00000542074.1:c.36+7806T>C	ENSP00000469670.1:n.36+7806T>C
ENST00000542794.5:c.*263-16T>C	ENSP00000439983.1:n.*263-16T>C
ENST00000543044.2:c.225-16T>C	ENSP00000440219.1:n.225-16T>C
ENST00000543265.1:c.260+140T>C	ENSP00000443660.1:n.260+140T>C
ENST00000544025.5:n.356-16T>C
ENST00000544801.5:c.261-16T>C	ENSP00000442581.1:n.261-16T>C
ENST00000544880.1:n.265-16T>C
NM_017841.2:c.261-16T>C , LRG_519t1:c.261-16T>C	NP_060311.1:n.261-16T>C
NM_017841.4:c.261-16T>C MANE Select	NP_060311.1:n.261-16T>C