Canonical Allele Identifier: CA2807138614
Gene: BBS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56514728_56514729insAC , CM000678.2:g.56514728_56514729insAC GRCh38
NC_000016.9:g.56548640_56548641insAC , CM000678.1:g.56548640_56548641insAC GRCh37
NC_000016.8:g.55106141_55106142insAC NCBI36
NG_009312.1:g.10555_10556insGT
NG_009312.2:g.10296_10297insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000562012.2:c.*92-49_*92-48insGT ENSP00000455651.2:n.*92-49_*92-48insGT
ENST00000562059.2:n.115-49_115-48insGT
ENST00000565781.6:n.132-49_132-48insGT
ENST00000566410.2:n.331-49_331-48insGT
ENST00000568104.6:c.118-49_118-48insGT ENSP00000456289.1:n.118-49_118-48insGT
ENST00000569342.6:n.291-49_291-48insGT
ENST00000569941.6:c.-356-49_-356-48insGT ENSP00000456741.2:n.-356-49_-356-48insGT
ENST00000682001.1:n.112-49_112-48insGT
ENST00000682005.1:n.109-49_109-48insGT
ENST00000682021.1:n.128-49_128-48insGT
ENST00000682038.1:c.118-49_118-48insGT ENSP00000508404.1:n.118-49_118-48insGT
ENST00000682047.1:c.118-49_118-48insGT ENSP00000507699.1:n.118-49_118-48insGT
ENST00000682088.1:c.118-49_118-48insGT ENSP00000508064.1:n.118-49_118-48insGT
ENST00000682096.1:n.324-49_324-48insGT
ENST00000682113.1:n.91-49_91-48insGT
ENST00000682146.1:n.331-49_331-48insGT
ENST00000682187.1:c.118-49_118-48insGT ENSP00000507203.1:n.118-49_118-48insGT
ENST00000682188.1:c.118-49_118-48insGT ENSP00000507655.1:n.118-49_118-48insGT
ENST00000682201.1:n.109-49_109-48insGT
ENST00000682205.1:c.118-49_118-48insGT ENSP00000508377.1:n.118-49_118-48insGT
ENST00000682348.1:c.118-49_118-48insGT ENSP00000506965.1:n.118-49_118-48insGT
ENST00000682360.1:c.-480-49_-480-48insGT ENSP00000508007.1:n.-480-49_-480-48insGT
ENST00000682370.1:n.324-49_324-48insGT
ENST00000682420.1:n.324-49_324-48insGT
ENST00000682429.1:c.118-49_118-48insGT ENSP00000506827.1:n.118-49_118-48insGT
ENST00000682449.1:c.118-49_118-48insGT ENSP00000507836.1:n.118-49_118-48insGT
ENST00000682470.1:c.118-49_118-48insGT ENSP00000507654.1:n.118-49_118-48insGT
ENST00000682473.1:n.83-49_83-48insGT
ENST00000682482.1:c.118-49_118-48insGT ENSP00000507903.1:n.118-49_118-48insGT
ENST00000682492.1:n.162-49_162-48insGT
ENST00000682493.1:c.118-49_118-48insGT ENSP00000506778.1:n.118-49_118-48insGT
ENST00000682543.1:c.118-49_118-48insGT ENSP00000507592.1:n.118-49_118-48insGT
ENST00000682561.1:n.127-49_127-48insGT
ENST00000682597.1:n.324-49_324-48insGT
ENST00000682658.1:c.118-49_118-48insGT ENSP00000507773.1:n.118-49_118-48insGT
ENST00000682705.1:n.324-49_324-48insGT
ENST00000682723.1:c.-480-49_-480-48insGT ENSP00000507115.1:n.-480-49_-480-48insGT
ENST00000682735.1:c.118-49_118-48insGT ENSP00000507007.1:n.118-49_118-48insGT
ENST00000682737.1:c.-480-49_-480-48insGT ENSP00000506876.1:n.-480-49_-480-48insGT
ENST00000682757.1:n.324-49_324-48insGT
ENST00000682855.1:c.118-49_118-48insGT ENSP00000507027.1:n.118-49_118-48insGT
ENST00000682857.1:n.331-49_331-48insGT
ENST00000682875.1:c.118-49_118-48insGT ENSP00000507771.1:n.118-49_118-48insGT
ENST00000682919.1:n.80-49_80-48insGT
ENST00000682930.1:c.43-49_43-48insGT ENSP00000507981.1:n.43-49_43-48insGT
ENST00000682948.1:n.331-49_331-48insGT
ENST00000682960.1:n.331-49_331-48insGT
ENST00000683008.1:n.324-49_324-48insGT
ENST00000683020.1:c.118-49_118-48insGT ENSP00000507944.1:n.118-49_118-48insGT
ENST00000683099.1:n.324-49_324-48insGT
ENST00000683170.1:n.262-49_262-48insGT
ENST00000683212.1:c.118-49_118-48insGT ENSP00000507839.1:n.118-49_118-48insGT
ENST00000683248.1:n.324-49_324-48insGT
ENST00000683343.1:n.109-49_109-48insGT
ENST00000683347.1:n.109-49_109-48insGT
ENST00000683396.1:n.324-49_324-48insGT
ENST00000683410.1:n.324-49_324-48insGT
ENST00000683485.1:n.331-49_331-48insGT
ENST00000683504.1:n.324-49_324-48insGT
ENST00000683533.1:c.-480-49_-480-48insGT ENSP00000508296.1:n.-480-49_-480-48insGT
ENST00000683609.1:n.331-49_331-48insGT
ENST00000683644.1:c.118-49_118-48insGT ENSP00000507914.1:n.118-49_118-48insGT
ENST00000683660.1:n.331-49_331-48insGT
ENST00000683690.1:c.118-49_118-48insGT ENSP00000508152.1:n.118-49_118-48insGT
ENST00000683719.1:n.101-49_101-48insGT
ENST00000683757.1:n.107-49_107-48insGT
ENST00000683858.1:c.118-49_118-48insGT ENSP00000507657.1:n.118-49_118-48insGT
ENST00000683875.1:c.118-3445_118-3444insGT ENSP00000507602.1:n.118-3445_118-3444insGT
ENST00000683904.1:n.331-49_331-48insGT
ENST00000683910.1:n.331-49_331-48insGT
ENST00000683959.1:c.-480-49_-480-48insGT ENSP00000508309.1:n.-480-49_-480-48insGT
ENST00000683976.1:c.118-49_118-48insGT ENSP00000507183.1:n.118-49_118-48insGT
ENST00000683978.1:n.261-49_261-48insGT
ENST00000683992.1:c.118-49_118-48insGT ENSP00000508144.1:n.118-49_118-48insGT
ENST00000684020.1:n.324-49_324-48insGT
ENST00000684044.1:n.331-49_331-48insGT
ENST00000684057.1:n.320-49_320-48insGT
ENST00000684076.1:n.289-49_289-48insGT
ENST00000684128.1:n.324-49_324-48insGT
ENST00000684194.1:n.324-49_324-48insGT
ENST00000684205.1:n.113_114insGT
ENST00000684246.1:c.118-49_118-48insGT ENSP00000508273.1:n.118-49_118-48insGT
ENST00000684402.1:n.324-49_324-48insGT
ENST00000684446.1:n.331-49_331-48insGT
ENST00000684531.1:n.351-49_351-48insGT
ENST00000684635.1:c.118-49_118-48insGT ENSP00000507335.1:n.118-49_118-48insGT
ENST00000684673.1:c.118-49_118-48insGT ENSP00000507746.1:n.118-49_118-48insGT
ENST00000684684.1:c.118-49_118-48insGT ENSP00000507026.1:n.118-49_118-48insGT
ENST00000245157.11:c.118-49_118-48insGT MANE Select ENSP00000245157.5:n.118-49_118-48insGT
ENST00000245157.9:c.118-49_118-48insGT ENSP00000245157.5:n.118-49_118-48insGT
ENST00000565378.1:n.101-49_101-48insGT
ENST00000565781.5:n.132-49_132-48insGT
ENST00000566689.5:n.109-49_109-48insGT
ENST00000568104.5:c.118-49_118-48insGT ENSP00000456289.1:n.118-49_118-48insGT
ENST00000569342.5:n.252-49_252-48insGT
ENST00000569941.5:c.-480-49_-480-48insGT ENSP00000456741.1:n.-480-49_-480-48insGT
NM_031885.3:c.118-49_118-48insGT NP_114091.3:n.118-49_118-48insGT
XM_005256080.1:c.118-49_118-48insGT XP_005256137.1:n.118-49_118-48insGT
XM_005256081.1:c.118-49_118-48insGT XP_005256138.1:n.118-49_118-48insGT
XM_005256082.1:c.118-49_118-48insGT XP_005256139.1:n.118-49_118-48insGT
XM_011523251.1:c.118-49_118-48insGT XP_011521553.1:n.118-49_118-48insGT
XR_933378.1:n.351-49_351-48insGT
XR_933379.1:n.351-49_351-48insGT
XR_933380.1:n.351-49_351-48insGT
XM_005256080.2:c.118-49_118-48insGT XP_005256137.1:n.118-49_118-48insGT
XR_001751958.1:n.351-49_351-48insGT
XR_001751959.2:n.351-49_351-48insGT
XR_001751960.1:n.351-49_351-48insGT
XR_001751961.1:n.351-49_351-48insGT
XR_933380.2:n.351-49_351-48insGT
NM_031885.4:c.118-49_118-48insGT NP_114091.3:n.118-49_118-48insGT
NM_001377456.1:c.118-49_118-48insGT NP_001364385.1:n.118-49_118-48insGT
NM_031885.5:c.118-49_118-48insGT MANE Select NP_114091.4:n.118-49_118-48insGT
NR_165293.1:n.280-49_280-48insGT
NR_165294.1:n.280-49_280-48insGT
NR_165295.1:n.280-49_280-48insGT
NR_165296.1:n.280-49_280-48insGT
NR_165297.1:n.280-49_280-48insGT