Canonical Allele Identifier: CA2580060618

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1755841
• ClinVar RCV Id: RCV002362153 ; RCV003103339

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022687_17022688dup , CM000663.2:g.17022687_17022688dup	GRCh38
NC_000001.10:g.17349182_17349183dup , CM000663.1:g.17349182_17349183dup	GRCh37
NC_000001.9:g.17221769_17221770dup	NCBI36
NG_012340.1:g.36484_36485dup , LRG_316:g.36484_36485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.515_516dup	ENSP00000481376.2:p.Arg173SerfsTer19
ENST00000491274.6:c.644_645dup	ENSP00000480482.2:p.Arg216SerfsTer19
ENST00000375499.8:c.686_687dup MANE Select	ENSP00000364649.3:p.Arg230SerfsTer19
ENST00000375499.7:c.686_687dup	ENSP00000364649.3:p.Arg230SerfsTer19
ENST00000475049.5:n.111_112dup
ENST00000485092.5:n.350_351dup
ENST00000485515.5:n.620_621dup
NM_003000.2:c.686_687dup , LRG_316t1:c.686_687dup	NP_002991.2:p.Arg230SerfsTer19
NM_003000.3:c.686_687dup MANE Select	NP_002991.2:p.Arg230SerfsTer19