Canonical Allele Identifier: CA2499214301
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1070347
ClinVar RCV Id: RCV001382459
dbSNP Id: rs2101521760

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027824del , CM000663.2:g.17027824del GRCh38
NC_000001.10:g.17354319del , CM000663.1:g.17354319del GRCh37
NC_000001.9:g.17226906del NCBI36
NG_012340.1:g.31348del , LRG_316:g.31348del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.295del ENSP00000481376.2:p.Tyr99IlefsTer2
ENST00000491274.6:c.424del ENSP00000480482.2:p.Tyr142IlefsTer2
ENST00000375499.8:c.466del MANE Select ENSP00000364649.3:p.Tyr156IlefsTer2
ENST00000375499.7:c.466del ENSP00000364649.3:p.Tyr156IlefsTer2
ENST00000463045.2:c.295del ENSP00000481376.1:p.Tyr99IlefsTer2
ENST00000475506.1:n.383del
ENST00000485515.5:n.400del
ENST00000491274.5:c.424del ENSP00000480482.1:p.Tyr142IlefsTer2
NM_003000.2:c.466del , LRG_316t1:c.466del NP_002991.2:p.Tyr156IlefsTer2
NM_003000.3:c.466del MANE Select NP_002991.2:p.Tyr156IlefsTer2