Canonical Allele Identifier: CA2573130774

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1425395
• ClinVar RCV Id: RCV001926606 ; RCV003315451
• dbSNP Id: rs2101516417

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17024017dup , CM000663.2:g.17024017dup	GRCh38
NC_000001.10:g.17350512dup , CM000663.1:g.17350512dup	GRCh37
NC_000001.9:g.17223099dup	NCBI36
NG_012340.1:g.35154dup , LRG_316:g.35154dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.427dup	ENSP00000481376.2:p.Trp143LeufsTer22
ENST00000491274.6:c.556dup	ENSP00000480482.2:p.Trp186LeufsTer22
ENST00000375499.8:c.598dup MANE Select	ENSP00000364649.3:p.Trp200LeufsTer22
ENST00000375499.7:c.598dup	ENSP00000364649.3:p.Trp200LeufsTer22
ENST00000485515.5:n.532dup
ENST00000491274.5:c.556dup	ENSP00000480482.1:p.Trp186LeufsTer?
NM_003000.2:c.598dup , LRG_316t1:c.598dup	NP_002991.2:p.Trp200LeufsTer22
NM_003000.3:c.598dup MANE Select	NP_002991.2:p.Trp200LeufsTer22