Canonical Allele Identifier: CA016120

Gene: SDHB

Linked Data

• ClinVar Variation Id: 12782
• ClinVar RCV Id: RCV000013621 ; RCV000128877 ; RCV001034689
• dbSNP Id: rs587781266
• MyVariant Identifiers: chr1:g.17349149_17349152del (hg19) ; chr1:g.17022654_17022657del (hg38)
• PubMed: PMID:12000816 ; PMID:14685938 ; PMID:17634472

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022657_17022660del , CM000663.2:g.17022657_17022660del	GRCh38
NC_000001.10:g.17349152_17349155del , CM000663.1:g.17349152_17349155del	GRCh37
NC_000001.9:g.17221739_17221742del	NCBI36
NG_012340.1:g.36514_36517del , LRG_316:g.36514_36517del

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.545_548del	ENSP00000481376.2:p.Ser182TyrfsTer8
ENST00000491274.6:c.674_677del	ENSP00000480482.2:p.Ser225TyrfsTer8
ENST00000375499.8:c.716_719del MANE Select	ENSP00000364649.3:p.Ser239TyrfsTer8
ENST00000375499.7:c.716_719del	ENSP00000364649.3:p.Ser239TyrfsTer8
ENST00000475049.5:n.141_144del
ENST00000485092.5:n.380_383del
ENST00000485515.5:n.650_653del
NM_003000.2:c.716_719del , LRG_316t1:c.716_719del	NP_002991.2:p.Ser239TyrfsTer8
NM_003000.3:c.716_719del MANE Select	NP_002991.2:p.Ser239TyrfsTer8