Canonical Allele Identifier: CA058404

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 532508
• ClinVar RCV Id: RCV000639336 ; RCV001018326
• dbSNP Id: rs753554501
• ExAC: 11:61205520 T / TA
• gnomAD v2: 11-61205520-T-TA
• gnomAD v3: 11-61438048-T-TA
• gnomAD v4: 11-61438048-T-TA
• MyVariant Identifiers: chr11:g.61205520_61205521insA (hg19) ; chr11:g.61438048_61438049insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61438048_61438049insA , CM000673.2:g.61438048_61438049insA	GRCh38
NC_000011.9:g.61205520_61205521insA , CM000673.1:g.61205520_61205521insA	GRCh37
NC_000011.8:g.60962096_60962097insA	NCBI36
NG_023393.1:g.12924_12925insA , LRG_519:g.12924_12925insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000301761.7:c.305_306insA MANE Select	ENSP00000301761.3:p.Asn103GlufsTer4
ENST00000301761.6:c.305_306insA	ENSP00000301761.2:p.Asn103GlufsTer4
ENST00000359614.9:c.305_306insA	ENSP00000352630.5:p.Asn103GlufsTer4
ENST00000534878.5:c.305_306insA	ENSP00000471030.1:p.Asn103GlufsTer4
ENST00000536250.1:c.*307_*308insA	ENSP00000471120.1:n.*307_*308insA
ENST00000536670.5:n.331_332insA
ENST00000537782.5:c.305_306insA	ENSP00000469951.1:p.Asn103GlufsTer4
ENST00000538594.5:c.305_306insA	ENSP00000440939.1:p.Asn103GlufsTer4
ENST00000541135.5:c.305_306insA	ENSP00000443130.1:p.Asn103GlufsTer4
ENST00000542074.1:c.36+7866_36+7867insA	ENSP00000469670.1:n.36+7866_36+7867insA
ENST00000542794.5:c.*307_*308insA	ENSP00000439983.1:n.*307_*308insA
ENST00000543044.2:c.269_270insA	ENSP00000440219.1:p.Asn91GlufsTer4
ENST00000543265.1:c.260+200_260+201insA	ENSP00000443660.1:n.260+200_260+201insA
ENST00000544025.5:n.400_401insA
ENST00000544801.5:c.305_306insA	ENSP00000442581.1:p.Asn103GlufsTer4
ENST00000544880.1:n.309_310insA
NM_017841.2:c.305_306insA , LRG_519t1:c.305_306insA	NP_060311.1:p.Asn103GlufsTer4
NM_017841.4:c.305_306insA MANE Select	NP_060311.1:p.Asn103GlufsTer4