Canonical Allele Identifier: CA380685342

Gene: SDHAF2

Linked Data

• MyVariant Identifiers: chr11:g.61213458T>A (hg19) ; chr11:g.61445986T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445986T>A , CM000673.2:g.61445986T>A	GRCh38
NC_000011.9:g.61213458T>A , CM000673.1:g.61213458T>A	GRCh37
NC_000011.8:g.60970034T>A	NCBI36
NG_023393.1:g.20862T>A , LRG_519:g.20862T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.416T>A MANE Select	ENSP00000301761.3:p.Leu139Gln
ENST00000301761.6:c.416T>A	ENSP00000301761.2:p.Leu139Gln
ENST00000359614.9:c.*124T>A	ENSP00000352630.5:n.*124T>A
ENST00000536670.5:n.396+7873T>A
ENST00000537782.5:c.*62T>A	ENSP00000469951.1:n.*62T>A
ENST00000538594.5:c.370+7873T>A	ENSP00000440939.1:n.370+7873T>A
ENST00000541135.5:c.377+7866T>A	ENSP00000443130.1:n.377+7866T>A
ENST00000542074.1:c.82T>A	ENSP00000469670.1:p.Cys28Ser
ENST00000542794.5:c.*418T>A	ENSP00000439983.1:n.*418T>A
ENST00000543044.2:c.380T>A	ENSP00000440219.1:p.Leu127Gln
ENST00000543265.1:c.*39T>A	ENSP00000443660.1:n.*39T>A
ENST00000544025.5:n.465+7873T>A
ENST00000544801.5:c.370+7873T>A	ENSP00000442581.1:n.370+7873T>A
ENST00000544880.1:n.374+7873T>A
NM_017841.2:c.416T>A , LRG_519t1:c.416T>A	NP_060311.1:p.Leu139Gln
NM_017841.4:c.416T>A MANE Select	NP_060311.1:p.Leu139Gln