Canonical Allele Identifier: CA923726257

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56514678_56519838del , CM000678.2:g.56514678_56519838del	GRCh38
NC_000016.9:g.56548590_56553750del , CM000678.1:g.56548590_56553750del	GRCh37
NC_000016.8:g.55106091_55111251del	NCBI36
NG_009312.1:g.5446_10606del
NG_009312.2:g.5187_10347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562012.2:c.25_*94del
ENST00000565781.6:n.131+119_134del
ENST00000566410.2:n.238_333del
ENST00000568104.6:c.25_120del
ENST00000569342.6:n.198_293del
ENST00000569941.6:c.-357+119_-354del
ENST00000682001.1:n.111+119_114del
ENST00000682005.1:n.108+119_111del
ENST00000682021.1:n.127+119_130del
ENST00000682038.1:c.25_120del
ENST00000682047.1:c.25_120del
ENST00000682088.1:c.25_120del
ENST00000682096.1:n.231_326del
ENST00000682146.1:n.238_333del
ENST00000682187.1:c.25_120del
ENST00000682188.1:c.25_120del
ENST00000682205.1:c.25_120del
ENST00000682348.1:c.25_120del
ENST00000682360.1:c.-481+119_-478del
ENST00000682370.1:n.231_326del
ENST00000682420.1:n.231_326del
ENST00000682429.1:c.25_120del
ENST00000682449.1:c.25_120del
ENST00000682470.1:c.25_120del
ENST00000682482.1:c.25_120del
ENST00000682492.1:n.69_164del
ENST00000682493.1:c.25_120del
ENST00000682543.1:c.25_120del
ENST00000682561.1:n.34_129del
ENST00000682597.1:n.231_326del
ENST00000682658.1:c.25_120del
ENST00000682705.1:n.231_326del
ENST00000682723.1:c.-481+119_-478del
ENST00000682735.1:c.25_120del
ENST00000682737.1:c.-481+119_-478del
ENST00000682757.1:n.231_326del
ENST00000682855.1:c.25_120del
ENST00000682857.1:n.238_333del
ENST00000682875.1:c.25_120del
ENST00000682930.1:c.43-5158_45del
ENST00000682948.1:n.238_333del
ENST00000682960.1:n.238_333del
ENST00000683008.1:n.231_326del
ENST00000683020.1:c.25_120del
ENST00000683099.1:n.231_326del
ENST00000683170.1:n.169_264del
ENST00000683212.1:c.25_120del
ENST00000683248.1:n.231_326del
ENST00000683343.1:n.108+119_111del
ENST00000683347.1:n.108+119_111del
ENST00000683396.1:n.231_326del
ENST00000683410.1:n.231_326del
ENST00000683485.1:n.238_333del
ENST00000683504.1:n.231_326del
ENST00000683533.1:c.-481+119_-478del
ENST00000683609.1:n.238_333del
ENST00000683644.1:c.25_120del
ENST00000683660.1:n.238_333del
ENST00000683690.1:c.25_120del
ENST00000683719.1:n.100+119_103del
ENST00000683858.1:c.25_120del
ENST00000683875.1:c.25_118-3394del
ENST00000683904.1:n.238_333del
ENST00000683910.1:n.238_333del
ENST00000683959.1:c.-481+119_-478del
ENST00000683976.1:c.25_120del
ENST00000683992.1:c.25_120del
ENST00000684020.1:n.231_326del
ENST00000684044.1:n.238_333del
ENST00000684057.1:n.227_322del
ENST00000684076.1:n.196_291del
ENST00000684128.1:n.231_326del
ENST00000684194.1:n.231_326del
ENST00000684246.1:c.25_120del
ENST00000684402.1:n.231_326del
ENST00000684446.1:n.238_333del
ENST00000684531.1:n.258_353del
ENST00000684635.1:c.25_120del
ENST00000684673.1:c.25_120del
ENST00000684684.1:c.25_120del
ENST00000245157.11:c.25_120del
ENST00000245157.9:c.25_120del
ENST00000565378.1:n.100+119_103del
ENST00000565781.5:n.131+119_134del
ENST00000568104.5:c.25_120del
ENST00000569342.5:n.159_254del
NM_031885.3:c.25_120del
XM_005256080.1:c.25_120del
XM_005256081.1:c.25_120del
XM_005256082.1:c.25_120del
XM_011523251.1:c.25_120del
XR_933378.1:n.258_353del
XR_933379.1:n.258_353del
XR_933380.1:n.258_353del
XM_005256080.2:c.25_120del
XR_001751958.1:n.258_353del
XR_001751959.2:n.258_353del
XR_001751960.1:n.258_353del
XR_001751961.1:n.258_353del
XR_933380.2:n.258_353del
NM_031885.4:c.25_120del
NM_001377456.1:c.25_120del
NM_031885.5:c.25_120del
NR_165293.1:n.187_282del
NR_165294.1:n.187_282del
NR_165295.1:n.187_282del
NR_165296.1:n.187_282del
NR_165297.1:n.187_282del