Canonical Allele Identifier: CA380685379

Gene: SDHAF2

Linked Data

• MyVariant Identifiers: chr11:g.61213473C>T (hg19) ; chr11:g.61446001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446001C>T , CM000673.2:g.61446001C>T	GRCh38
NC_000011.9:g.61213473C>T , CM000673.1:g.61213473C>T	GRCh37
NC_000011.8:g.60970049C>T	NCBI36
NG_023393.1:g.20877C>T , LRG_519:g.20877C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.431C>T MANE Select	ENSP00000301761.3:p.Ala144Val
ENST00000301761.6:c.431C>T	ENSP00000301761.2:p.Ala144Val
ENST00000359614.9:c.*139C>T	ENSP00000352630.5:n.*139C>T
ENST00000536670.5:n.396+7888C>T
ENST00000537782.5:c.*77C>T	ENSP00000469951.1:n.*77C>T
ENST00000538594.5:c.370+7888C>T	ENSP00000440939.1:n.370+7888C>T
ENST00000541135.5:c.377+7881C>T	ENSP00000443130.1:n.377+7881C>T
ENST00000542074.1:c.*10C>T	ENSP00000469670.1:n.*10C>T
ENST00000542794.5:c.*433C>T	ENSP00000439983.1:n.*433C>T
ENST00000543044.2:c.395C>T	ENSP00000440219.1:p.Ala132Val
ENST00000543265.1:c.*54C>T	ENSP00000443660.1:n.*54C>T
ENST00000544025.5:n.465+7888C>T
ENST00000544801.5:c.370+7888C>T	ENSP00000442581.1:n.370+7888C>T
ENST00000544880.1:n.374+7888C>T
NM_017841.2:c.431C>T , LRG_519t1:c.431C>T	NP_060311.1:p.Ala144Val
NM_017841.4:c.431C>T MANE Select	NP_060311.1:p.Ala144Val