Canonical Allele Identifier: CA599504176

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1208840356
• gnomAD v2: 11-61213929-T-TCCCGCCCTCCCTGCAGCTC
• gnomAD v4: 11-61446457-T-TCCCGCCCTCCCTGCAGCTC
• MyVariant Identifiers: chr11:g.61213929_61213930insCCCGCCCTCCCTGCAGCTC (hg19) ; chr11:g.61446457_61446458insCCCGCCCTCCCTGCAGCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446467_61446485dup , CM000673.2:g.61446467_61446485dup	GRCh38
NC_000011.9:g.61213939_61213957dup , CM000673.1:g.61213939_61213957dup	GRCh37
NC_000011.8:g.60970515_60970533dup	NCBI36
NG_023393.1:g.21343_21361dup , LRG_519:g.21343_21361dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.*396_*414dup MANE Select	ENSP00000301761.3:n.*396_*414dup
ENST00000301761.6:c.*396_*414dup	ENSP00000301761.2:n.*396_*414dup
ENST00000536670.5:n.396+8354_396+8372dup
ENST00000538594.5:c.370+8354_370+8372dup	ENSP00000440939.1:n.370+8354_370+8372dup
ENST00000541135.5:c.377+8347_377+8365dup	ENSP00000443130.1:n.377+8347_377+8365dup
ENST00000542074.1:c.*476_*494dup	ENSP00000469670.1:n.*476_*494dup
ENST00000543044.2:c.*160+236_*160+254dup	ENSP00000440219.1:n.*160+236_*160+254dup
ENST00000544025.5:n.465+8354_465+8372dup
ENST00000544801.5:c.370+8354_370+8372dup	ENSP00000442581.1:n.370+8354_370+8372dup
ENST00000544880.1:n.374+8354_374+8372dup
NM_017841.2:c.*396_*414dup , LRG_519t1:c.*396_*414dup	NP_060311.1:n.*396_*414dup
NM_017841.4:c.*396_*414dup MANE Select	NP_060311.1:n.*396_*414dup