Canonical Allele Identifier: CA059347

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 403424
• ClinVar RCV Id: RCV000455263 ; RCV000822300 ; RCV001022516 ; RCV002480336
• dbSNP Id: rs772219112
• ExAC: 11:61213486 CAA / C
• gnomAD v2: 11-61213486-CAA-C
• gnomAD v4: 11-61446014-CAA-C
• MyVariant Identifiers: chr11:g.61213488_61213489del (hg19) ; chr11:g.61213487_61213488del (hg19) ; chr11:g.61446016_61446017del (hg38) ; chr11:g.61446015_61446016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446016_61446017del , CM000673.2:g.61446016_61446017del	GRCh38
NC_000011.9:g.61213488_61213489del , CM000673.1:g.61213488_61213489del	GRCh37
NC_000011.8:g.60970064_60970065del	NCBI36
NG_023393.1:g.20892_20893del , LRG_519:g.20892_20893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.446_447del MANE Select	ENSP00000301761.3:p.Lys149ArgfsTer10
ENST00000301761.6:c.446_447del	ENSP00000301761.2:p.Lys149ArgfsTer10
ENST00000536670.5:n.396+7903_396+7904del
ENST00000537782.5:c.*92_*93del	ENSP00000469951.1:n.*92_*93del
ENST00000538594.5:c.370+7903_370+7904del	ENSP00000440939.1:n.370+7903_370+7904del
ENST00000541135.5:c.377+7896_377+7897del	ENSP00000443130.1:n.377+7896_377+7897del
ENST00000542074.1:c.*25_*26del	ENSP00000469670.1:n.*25_*26del
ENST00000542794.5:c.*448_*449del	ENSP00000439983.1:n.*448_*449del
ENST00000543044.2:c.410_411del	ENSP00000440219.1:p.Lys137ArgfsTer10
ENST00000543265.1:c.*69_*70del	ENSP00000443660.1:n.*69_*70del
ENST00000544025.5:n.465+7903_465+7904del
ENST00000544801.5:c.370+7903_370+7904del	ENSP00000442581.1:n.370+7903_370+7904del
ENST00000544880.1:n.374+7903_374+7904del
NM_017841.2:c.446_447del , LRG_519t1:c.446_447del	NP_060311.1:p.Lys149ArgfsTer10
NM_017841.4:c.446_447del MANE Select	NP_060311.1:p.Lys149ArgfsTer10