Canonical Allele Identifier: CA380683573

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 1488680
• ClinVar RCV Id: RCV002001295 ; RCV003154231
• dbSNP Id: rs752462796
• MyVariant Identifiers: chr11:g.61205254C>G (hg19) ; chr11:g.61437782C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61437782C>G , CM000673.2:g.61437782C>G	GRCh38
NC_000011.9:g.61205254C>G , CM000673.1:g.61205254C>G	GRCh37
NC_000011.8:g.60961830C>G	NCBI36
NG_023393.1:g.12658C>G , LRG_519:g.12658C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.194C>G MANE Select	ENSP00000301761.3:p.Thr65Ser
ENST00000301761.6:c.194C>G	ENSP00000301761.2:p.Thr65Ser
ENST00000359614.9:c.194C>G	ENSP00000352630.5:p.Thr65Ser
ENST00000534878.5:c.194C>G	ENSP00000471030.1:p.Thr65Ser
ENST00000536250.1:c.*196C>G	ENSP00000471120.1:n.*196C>G
ENST00000536670.5:n.220C>G
ENST00000537782.5:c.194C>G	ENSP00000469951.1:p.Thr65Ser
ENST00000538594.5:c.194C>G	ENSP00000440939.1:p.Thr65Ser
ENST00000541135.5:c.194C>G	ENSP00000443130.1:p.Thr65Ser
ENST00000542074.1:c.36+7600C>G	ENSP00000469670.1:n.36+7600C>G
ENST00000542794.5:c.*196C>G	ENSP00000439983.1:n.*196C>G
ENST00000543044.2:c.158C>G	ENSP00000440219.1:p.Thr53Ser
ENST00000543265.1:c.194C>G	ENSP00000443660.1:p.Thr65Ser
ENST00000544025.5:n.289C>G
ENST00000544801.5:c.194C>G	ENSP00000442581.1:p.Thr65Ser
ENST00000544880.1:n.198C>G
NM_017841.2:c.194C>G , LRG_519t1:c.194C>G	NP_060311.1:p.Thr65Ser
NM_017841.4:c.194C>G MANE Select	NP_060311.1:p.Thr65Ser