Canonical Allele Identifier: CA2499214300

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1177276
• ClinVar RCV Id: RCV001532952
• dbSNP Id: rs2101521720

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027809_17027812del , CM000663.2:g.17027809_17027812del	GRCh38
NC_000001.10:g.17354304_17354307del , CM000663.1:g.17354304_17354307del	GRCh37
NC_000001.9:g.17226891_17226894del	NCBI36
NG_012340.1:g.31361_31364del , LRG_316:g.31361_31364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.308_311del	ENSP00000481376.2:p.Lys103MetfsTer14
ENST00000491274.6:c.437_440del	ENSP00000480482.2:p.Lys146MetfsTer14
ENST00000375499.8:c.479_482del MANE Select	ENSP00000364649.3:p.Lys160MetfsTer14
ENST00000375499.7:c.479_482del	ENSP00000364649.3:p.Lys160MetfsTer14
ENST00000463045.2:c.308_311del	ENSP00000481376.1:p.Lys103MetfsTer14
ENST00000475506.1:n.396_399del
ENST00000485515.5:n.413_416del
ENST00000491274.5:c.437_440del	ENSP00000480482.1:p.Lys146MetfsTer14
NM_003000.2:c.479_482del , LRG_316t1:c.479_482del	NP_002991.2:p.Lys160MetfsTer14
NM_003000.3:c.479_482del MANE Select	NP_002991.2:p.Lys160MetfsTer14