Canonical Allele Identifier: CA2573130765
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1394793
ClinVar RCV Id: RCV001901000
dbSNP Id: rs2101513917

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022696_17022707del , CM000663.2:g.17022696_17022707del GRCh38
NC_000001.10:g.17349191_17349202del , CM000663.1:g.17349191_17349202del GRCh37
NC_000001.9:g.17221778_17221789del NCBI36
NG_012340.1:g.36466_36477del , LRG_316:g.36466_36477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.497_508del ENSP00000481376.2:p.Arg166_Phe169del
ENST00000491274.6:c.626_637del ENSP00000480482.2:p.Arg209_Phe212del
ENST00000375499.8:c.668_679del MANE Select ENSP00000364649.3:p.Arg223_Phe226del
ENST00000375499.7:c.668_679del ENSP00000364649.3:p.Arg223_Phe226del
ENST00000475049.5:n.93_104del
ENST00000485092.5:n.332_343del
ENST00000485515.5:n.602_613del
NM_003000.2:c.668_679del , LRG_316t1:c.668_679del NP_002991.2:p.Arg223_Phe226del
NM_003000.3:c.668_679del MANE Select NP_002991.2:p.Arg223_Phe226del