Canonical Allele Identifier: CA380685326

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 824589
• ClinVar RCV Id: RCV001021857
• dbSNP Id: rs1590769285
• MyVariant Identifiers: chr11:g.61213451A>T (hg19) ; chr11:g.61445979A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445979A>T , CM000673.2:g.61445979A>T	GRCh38
NC_000011.9:g.61213451A>T , CM000673.1:g.61213451A>T	GRCh37
NC_000011.8:g.60970027A>T	NCBI36
NG_023393.1:g.20855A>T , LRG_519:g.20855A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.409A>T MANE Select	ENSP00000301761.3:p.Met137Leu
ENST00000301761.6:c.409A>T	ENSP00000301761.2:p.Met137Leu
ENST00000359614.9:c.*117A>T	ENSP00000352630.5:n.*117A>T
ENST00000536670.5:n.396+7866A>T
ENST00000537782.5:c.*55A>T	ENSP00000469951.1:n.*55A>T
ENST00000538594.5:c.370+7866A>T	ENSP00000440939.1:n.370+7866A>T
ENST00000541135.5:c.377+7859A>T	ENSP00000443130.1:n.377+7859A>T
ENST00000542074.1:c.75A>T	ENSP00000469670.1:p.Ser25=
ENST00000542794.5:c.*411A>T	ENSP00000439983.1:n.*411A>T
ENST00000543044.2:c.373A>T	ENSP00000440219.1:p.Met125Leu
ENST00000543265.1:c.*32A>T	ENSP00000443660.1:n.*32A>T
ENST00000544025.5:n.465+7866A>T
ENST00000544801.5:c.370+7866A>T	ENSP00000442581.1:n.370+7866A>T
ENST00000544880.1:n.374+7866A>T
NM_017841.2:c.409A>T , LRG_519t1:c.409A>T	NP_060311.1:p.Met137Leu
NM_017841.4:c.409A>T MANE Select	NP_060311.1:p.Met137Leu