Canonical Allele Identifier: CA059431

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 241218
• ClinVar RCV Id: RCV000232071 ; RCV002347911 ; RCV003322764 ; RCV003475832
• dbSNP Id: rs150187184
• ExAC: 11:61213532 A / G
• gnomAD v2: 11-61213532-A-G
• gnomAD v3: 11-61446060-A-G
• gnomAD v4: 11-61446060-A-G
• MyVariant Identifiers: chr11:g.61213532A>G (hg19) ; chr11:g.61446060A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446060A>G , CM000673.2:g.61446060A>G	GRCh38
NC_000011.9:g.61213532A>G , CM000673.1:g.61213532A>G	GRCh37
NC_000011.8:g.60970108A>G	NCBI36
NG_023393.1:g.20936A>G , LRG_519:g.20936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.490A>G MANE Select	ENSP00000301761.3:p.Lys164Glu
ENST00000301761.6:c.490A>G	ENSP00000301761.2:p.Lys164Glu
ENST00000536670.5:n.396+7947A>G
ENST00000538594.5:c.370+7947A>G	ENSP00000440939.1:n.370+7947A>G
ENST00000541135.5:c.377+7940A>G	ENSP00000443130.1:n.377+7940A>G
ENST00000542074.1:c.*69A>G	ENSP00000469670.1:n.*69A>G
ENST00000542794.5:c.*492A>G	ENSP00000439983.1:n.*492A>G
ENST00000543044.2:c.454A>G	ENSP00000440219.1:p.Lys152Glu
ENST00000543265.1:c.*113A>G	ENSP00000443660.1:n.*113A>G
ENST00000544025.5:n.465+7947A>G
ENST00000544801.5:c.370+7947A>G	ENSP00000442581.1:n.370+7947A>G
ENST00000544880.1:n.374+7947A>G
NM_017841.2:c.490A>G , LRG_519t1:c.490A>G	NP_060311.1:p.Lys164Glu
NM_017841.4:c.490A>G MANE Select	NP_060311.1:p.Lys164Glu