Canonical Allele Identifier: CA380685659

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 3227059
• ClinVar RCV Id: RCV004522224
• dbSNP Id: rs2134902185
• MyVariant Identifiers: chr11:g.61213535C>T (hg19) ; chr11:g.61446063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446063C>T , CM000673.2:g.61446063C>T	GRCh38
NC_000011.9:g.61213535C>T , CM000673.1:g.61213535C>T	GRCh37
NC_000011.8:g.60970111C>T	NCBI36
NG_023393.1:g.20939C>T , LRG_519:g.20939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.493C>T MANE Select	ENSP00000301761.3:p.Pro165Ser
ENST00000301761.6:c.493C>T	ENSP00000301761.2:p.Pro165Ser
ENST00000536670.5:n.396+7950C>T
ENST00000538594.5:c.370+7950C>T	ENSP00000440939.1:n.370+7950C>T
ENST00000541135.5:c.377+7943C>T	ENSP00000443130.1:n.377+7943C>T
ENST00000542074.1:c.*72C>T	ENSP00000469670.1:n.*72C>T
ENST00000542794.5:c.*495C>T	ENSP00000439983.1:n.*495C>T
ENST00000543044.2:c.457C>T	ENSP00000440219.1:p.Pro153Ser
ENST00000543265.1:c.*116C>T	ENSP00000443660.1:n.*116C>T
ENST00000544025.5:n.465+7950C>T
ENST00000544801.5:c.370+7950C>T	ENSP00000442581.1:n.370+7950C>T
ENST00000544880.1:n.374+7950C>T
NM_017841.2:c.493C>T , LRG_519t1:c.493C>T	NP_060311.1:p.Pro165Ser
NM_017841.4:c.493C>T MANE Select	NP_060311.1:p.Pro165Ser