Canonical Allele Identifier: CA116934

Gene: BBS2

Linked Data

• ClinVar Variation Id: 4580
• ClinVar RCV Id: RCV000004842 ; RCV001390312 ; RCV002504748
• dbSNP Id: rs587777826
• MyVariant Identifiers: chr16:g.56544833del (hg19) ; chr16:g.56510921del (hg38)
• PubMed: PMID:11567139

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56510922del , CM000678.2:g.56510922del	GRCh38
NC_000016.9:g.56544834del , CM000678.1:g.56544834del	GRCh37
NC_000016.8:g.55102335del	NCBI36
NG_009312.1:g.14363del
NG_009312.2:g.14104del

Transcript Alleles

HGVS	Amino-acid change
ENST00000562012.2:c.*446del
ENST00000562059.2:n.469del
ENST00000565378.2:n.355del
ENST00000565781.6:n.486del
ENST00000565859.2:n.127del
ENST00000566410.2:n.685del
ENST00000568104.6:c.472del
ENST00000569342.6:n.645del
ENST00000569941.6:c.25del
ENST00000682001.1:n.466del
ENST00000682005.1:n.463del
ENST00000682021.1:n.482del
ENST00000682038.1:c.472del
ENST00000682047.1:c.472del
ENST00000682088.1:c.472del
ENST00000682096.1:n.678del
ENST00000682113.1:n.445del
ENST00000682146.1:n.685del
ENST00000682187.1:c.472del
ENST00000682188.1:c.472del
ENST00000682201.1:n.463del
ENST00000682205.1:c.472del
ENST00000682348.1:c.472del
ENST00000682360.1:c.-126del
ENST00000682370.1:n.678del
ENST00000682420.1:n.678del
ENST00000682429.1:c.472del
ENST00000682449.1:c.472del
ENST00000682470.1:c.472del
ENST00000682473.1:n.437del
ENST00000682482.1:c.346del
ENST00000682492.1:n.516del
ENST00000682493.1:c.472del
ENST00000682543.1:c.472del
ENST00000682561.1:n.481del
ENST00000682597.1:n.678del
ENST00000682658.1:c.472del
ENST00000682705.1:n.678del
ENST00000682723.1:c.-126del
ENST00000682735.1:c.472del
ENST00000682737.1:c.-126del
ENST00000682757.1:n.678del
ENST00000682855.1:c.472del
ENST00000682857.1:n.685del
ENST00000682875.1:c.472del
ENST00000682919.1:n.434del
ENST00000682930.1:c.397del
ENST00000682948.1:n.685del
ENST00000682960.1:n.685del
ENST00000683008.1:n.678del
ENST00000683020.1:c.472del
ENST00000683099.1:n.678del
ENST00000683170.1:n.616del
ENST00000683212.1:c.472del
ENST00000683248.1:n.678del
ENST00000683343.1:n.463del
ENST00000683347.1:n.463del
ENST00000683384.1:c.355del
ENST00000683396.1:n.678del
ENST00000683410.1:n.678del
ENST00000683485.1:n.685del
ENST00000683504.1:n.678del
ENST00000683533.1:c.-126del
ENST00000683609.1:n.685del
ENST00000683644.1:c.472del
ENST00000683660.1:n.685del
ENST00000683669.1:n.355del
ENST00000683690.1:c.472del
ENST00000683719.1:n.455del
ENST00000683757.1:n.461del
ENST00000683858.1:c.472del
ENST00000683875.1:c.244del
ENST00000683904.1:n.685del
ENST00000683910.1:n.685del
ENST00000683959.1:c.-126del
ENST00000683976.1:c.*21del
ENST00000683978.1:n.615del
ENST00000683992.1:c.472del
ENST00000684020.1:n.678del
ENST00000684044.1:n.685del
ENST00000684057.1:n.674del
ENST00000684076.1:n.643del
ENST00000684128.1:n.678del
ENST00000684194.1:n.678del
ENST00000684205.1:n.516del
ENST00000684246.1:c.472del
ENST00000684402.1:n.678del
ENST00000684446.1:n.685del
ENST00000684531.1:n.705del
ENST00000684635.1:c.472del
ENST00000684640.1:c.355del
ENST00000684673.1:c.472del
ENST00000684684.1:c.472del
ENST00000245157.11:c.472del
ENST00000245157.9:c.472del
ENST00000561951.5:n.121del
ENST00000565378.1:n.481del
ENST00000565781.5:n.486del
ENST00000566689.5:n.463del
ENST00000568104.5:c.472del
ENST00000569342.5:n.606del
ENST00000569941.5:c.-126del
NM_031885.3:c.472del
XM_005256080.1:c.472del
XM_005256081.1:c.472del
XM_005256082.1:c.472del
XM_011523251.1:c.472del
XR_933378.1:n.705del
XR_933379.1:n.705del
XR_933380.1:n.705del
XM_005256080.2:c.472del
XR_001751958.1:n.705del
XR_001751959.2:n.705del
XR_001751960.1:n.705del
XR_001751961.1:n.705del
XR_933380.2:n.705del
NM_031885.4:c.472del
NM_001377456.1:c.472del
NM_031885.5:c.472del
NR_165293.1:n.634del
NR_165294.1:n.634del
NR_165295.1:n.634del
NR_165296.1:n.634del
NR_165297.1:n.634del