Canonical Allele Identifier: CA380685580

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 2086192
• ClinVar RCV Id: RCV003007364 ; RCV003308412
• dbSNP Id: rs1862133697
• MyVariant Identifiers: chr11:g.61213522C>G (hg19) ; chr11:g.61446050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446050C>G , CM000673.2:g.61446050C>G	GRCh38
NC_000011.9:g.61213522C>G , CM000673.1:g.61213522C>G	GRCh37
NC_000011.8:g.60970098C>G	NCBI36
NG_023393.1:g.20926C>G , LRG_519:g.20926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.480C>G MANE Select	ENSP00000301761.3:p.Tyr160Ter
ENST00000301761.6:c.480C>G	ENSP00000301761.2:p.Tyr160Ter
ENST00000536670.5:n.396+7937C>G
ENST00000537782.5:c.*126C>G	ENSP00000469951.1:n.*126C>G
ENST00000538594.5:c.370+7937C>G	ENSP00000440939.1:n.370+7937C>G
ENST00000541135.5:c.377+7930C>G	ENSP00000443130.1:n.377+7930C>G
ENST00000542074.1:c.*59C>G	ENSP00000469670.1:n.*59C>G
ENST00000542794.5:c.*482C>G	ENSP00000439983.1:n.*482C>G
ENST00000543044.2:c.444C>G	ENSP00000440219.1:p.Tyr148Ter
ENST00000543265.1:c.*103C>G	ENSP00000443660.1:n.*103C>G
ENST00000544025.5:n.465+7937C>G
ENST00000544801.5:c.370+7937C>G	ENSP00000442581.1:n.370+7937C>G
ENST00000544880.1:n.374+7937C>G
NM_017841.2:c.480C>G , LRG_519t1:c.480C>G	NP_060311.1:p.Tyr160Ter
NM_017841.4:c.480C>G MANE Select	NP_060311.1:p.Tyr160Ter