Canonical Allele Identifier: CA380685705

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 2967724
• ClinVar RCV Id: RCV003826386
• dbSNP Id: rs1346862997
• gnomAD v2: 11-61213543-A-G
• gnomAD v4: 11-61446071-A-G
• MyVariant Identifiers: chr11:g.61213543A>G (hg19) ; chr11:g.61446071A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446071A>G , CM000673.2:g.61446071A>G	GRCh38
NC_000011.9:g.61213543A>G , CM000673.1:g.61213543A>G	GRCh37
NC_000011.8:g.60970119A>G	NCBI36
NG_023393.1:g.20947A>G , LRG_519:g.20947A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.501A>G MANE Select	ENSP00000301761.3:p.Ter167Trp
ENST00000301761.6:c.501A>G	ENSP00000301761.2:p.Ter167Trp
ENST00000536670.5:n.396+7958A>G
ENST00000538594.5:c.370+7958A>G	ENSP00000440939.1:n.370+7958A>G
ENST00000541135.5:c.377+7951A>G	ENSP00000443130.1:n.377+7951A>G
ENST00000542074.1:c.*80A>G	ENSP00000469670.1:n.*80A>G
ENST00000542794.5:c.*503A>G	ENSP00000439983.1:n.*503A>G
ENST00000543044.2:c.465A>G	ENSP00000440219.1:p.Ter155Trp
ENST00000543265.1:c.*124A>G	ENSP00000443660.1:n.*124A>G
ENST00000544025.5:n.465+7958A>G
ENST00000544801.5:c.370+7958A>G	ENSP00000442581.1:n.370+7958A>G
ENST00000544880.1:n.374+7958A>G
NM_017841.2:c.501A>G , LRG_519t1:c.501A>G	NP_060311.1:p.Ter167Trp
NM_017841.4:c.501A>G MANE Select	NP_060311.1:p.Ter167Trp