Canonical Allele Identifier: CA380685608

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 1743633
• ClinVar RCV Id: RCV002340342
• MyVariant Identifiers: chr11:g.61213527T>C (hg19) ; chr11:g.61446055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446055T>C , CM000673.2:g.61446055T>C	GRCh38
NC_000011.9:g.61213527T>C , CM000673.1:g.61213527T>C	GRCh37
NC_000011.8:g.60970103T>C	NCBI36
NG_023393.1:g.20931T>C , LRG_519:g.20931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.485T>C MANE Select	ENSP00000301761.3:p.Phe162Ser
ENST00000301761.6:c.485T>C	ENSP00000301761.2:p.Phe162Ser
ENST00000536670.5:n.396+7942T>C
ENST00000537782.5:c.*131T>C	ENSP00000469951.1:n.*131T>C
ENST00000538594.5:c.370+7942T>C	ENSP00000440939.1:n.370+7942T>C
ENST00000541135.5:c.377+7935T>C	ENSP00000443130.1:n.377+7935T>C
ENST00000542074.1:c.*64T>C	ENSP00000469670.1:n.*64T>C
ENST00000542794.5:c.*487T>C	ENSP00000439983.1:n.*487T>C
ENST00000543044.2:c.449T>C	ENSP00000440219.1:p.Phe150Ser
ENST00000543265.1:c.*108T>C	ENSP00000443660.1:n.*108T>C
ENST00000544025.5:n.465+7942T>C
ENST00000544801.5:c.370+7942T>C	ENSP00000442581.1:n.370+7942T>C
ENST00000544880.1:n.374+7942T>C
NM_017841.2:c.485T>C , LRG_519t1:c.485T>C	NP_060311.1:p.Phe162Ser
NM_017841.4:c.485T>C MANE Select	NP_060311.1:p.Phe162Ser