Canonical Allele Identifier: CA2695223419
Gene: BBS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56511159del , CM000678.2:g.56511159del GRCh38
NC_000016.9:g.56545071del , CM000678.1:g.56545071del GRCh37
NC_000016.8:g.55102572del NCBI36
NG_009312.1:g.14126del
NG_009312.2:g.13867del

Transcript Alleles

HGVS Amino-acid Change
ENST00000562012.2:c.*445+1del
ENST00000562059.2:n.468+1del
ENST00000565378.2:n.354+1del
ENST00000565781.6:n.485+1del
ENST00000565859.2:n.126+1del
ENST00000566410.2:n.684+1del
ENST00000568104.6:c.471+1del
ENST00000569342.6:n.644+1del
ENST00000569941.6:c.-2del ENSP00000456741.2:n.-2del
ENST00000682001.1:n.465+1del
ENST00000682005.1:n.462+1del
ENST00000682021.1:n.481+1del
ENST00000682038.1:c.471+1del
ENST00000682047.1:c.471+1del
ENST00000682088.1:c.471+1del
ENST00000682096.1:n.677+1del
ENST00000682113.1:n.444+1del
ENST00000682146.1:n.684+1del
ENST00000682187.1:c.471+1del
ENST00000682188.1:c.471+1del
ENST00000682201.1:n.462+1del
ENST00000682205.1:c.471+1del
ENST00000682348.1:c.471+1del
ENST00000682360.1:c.-127+1del
ENST00000682370.1:n.677+1del
ENST00000682420.1:n.677+1del
ENST00000682429.1:c.471+1del
ENST00000682449.1:c.471+1del
ENST00000682470.1:c.471+1del
ENST00000682473.1:n.436+1del
ENST00000682482.1:c.346-237del ENSP00000507903.1:n.346-237del
ENST00000682492.1:n.515+1del
ENST00000682493.1:c.471+1del
ENST00000682543.1:c.471+1del
ENST00000682561.1:n.480+1del
ENST00000682597.1:n.677+1del
ENST00000682658.1:c.471+1del
ENST00000682705.1:n.677+1del
ENST00000682723.1:c.-127+1del
ENST00000682735.1:c.471+1del
ENST00000682737.1:c.-127+1del
ENST00000682757.1:n.677+1del
ENST00000682855.1:c.471+1del
ENST00000682857.1:n.684+1del
ENST00000682875.1:c.471+1del
ENST00000682919.1:n.433+1del
ENST00000682930.1:c.396+1del
ENST00000682948.1:n.684+1del
ENST00000682960.1:n.684+1del
ENST00000683008.1:n.677+1del
ENST00000683020.1:c.471+1del
ENST00000683099.1:n.677+1del
ENST00000683170.1:n.615+1del
ENST00000683212.1:c.471+1del
ENST00000683248.1:n.677+1del
ENST00000683343.1:n.462+1del
ENST00000683347.1:n.462+1del
ENST00000683384.1:c.354+1del
ENST00000683396.1:n.677+1del
ENST00000683410.1:n.677+1del
ENST00000683485.1:n.684+1del
ENST00000683504.1:n.677+1del
ENST00000683533.1:c.-127+1del
ENST00000683609.1:n.684+1del
ENST00000683644.1:c.471+1del
ENST00000683660.1:n.684+1del
ENST00000683669.1:n.354+1del
ENST00000683690.1:c.471+1del
ENST00000683719.1:n.454+1del
ENST00000683757.1:n.460+1del
ENST00000683858.1:c.471+1del
ENST00000683875.1:c.243+1del
ENST00000683904.1:n.684+1del
ENST00000683910.1:n.684+1del
ENST00000683959.1:c.-127+1del
ENST00000683976.1:c.472del ENSP00000507183.1:p.Val158TyrfsTer15
ENST00000683978.1:n.614+1del
ENST00000683992.1:c.471+1del
ENST00000684020.1:n.677+1del
ENST00000684044.1:n.684+1del
ENST00000684057.1:n.673+1del
ENST00000684076.1:n.642+1del
ENST00000684128.1:n.677+1del
ENST00000684194.1:n.677+1del
ENST00000684205.1:n.515+1del
ENST00000684246.1:c.471+1del
ENST00000684402.1:n.677+1del
ENST00000684446.1:n.684+1del
ENST00000684531.1:n.704+1del
ENST00000684635.1:c.471+1del
ENST00000684640.1:c.354+1del
ENST00000684673.1:c.471+1del
ENST00000684684.1:c.471+1del
ENST00000245157.11:c.471+1del
ENST00000245157.9:c.471+1del
ENST00000561951.5:n.120+1del
ENST00000565378.1:n.455del
ENST00000565781.5:n.485+1del
ENST00000566689.5:n.462+1del
ENST00000568104.5:c.471+1del
ENST00000569342.5:n.605+1del
ENST00000569941.5:c.-127+1del
NM_031885.3:c.471+1del
XM_005256080.1:c.471+1del
XM_005256081.1:c.471+1del
XM_005256082.1:c.471+1del
XM_011523251.1:c.471+1del
XR_933378.1:n.704+1del
XR_933379.1:n.704+1del
XR_933380.1:n.704+1del
XM_005256080.2:c.471+1del
XR_001751958.1:n.704+1del
XR_001751959.2:n.704+1del
XR_001751960.1:n.704+1del
XR_001751961.1:n.704+1del
XR_933380.2:n.704+1del
NM_031885.4:c.471+1del
NM_001377456.1:c.471+1del
NM_031885.5:c.471+1del
NR_165293.1:n.633+1del
NR_165294.1:n.633+1del
NR_165295.1:n.633+1del
NR_165296.1:n.633+1del
NR_165297.1:n.633+1del