Canonical Allele Identifier: CA2580613875

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56485655_56485656del , CM000678.2:g.56485655_56485656del	GRCh38
NC_000016.9:g.56519567_56519568del , CM000678.1:g.56519567_56519568del	GRCh37
NC_000016.8:g.55077068_55077069del	NCBI36
NG_009312.1:g.39632_39633del
NG_009312.2:g.39373_39374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561877.2:c.1984_1985del	ENSP00000454986.2:n.1984_1985del
ENST00000562813.2:n.3484_3485del
ENST00000564123.7:n.842_843del
ENST00000564459.6:n.724_725del
ENST00000565781.6:n.5528_5529del
ENST00000565859.2:n.3071_3072del
ENST00000566210.2:n.2426_2427del
ENST00000566410.2:n.5511_5512del
ENST00000566452.2:n.3120_3121del
ENST00000568104.6:c.1859_1860del	ENSP00000456289.1:p.Thr620ArgfsTer?
ENST00000569192.6:n.1102_1103del
ENST00000618027.2:n.776_777del
ENST00000682000.1:n.1555_1556del
ENST00000682001.1:n.3026_3027del
ENST00000682038.1:c.*1386_*1387del	ENSP00000508404.1:n.*1386_*1387del
ENST00000682047.1:c.1997_1998del	ENSP00000507699.1:p.Thr666ArgfsTer?
ENST00000682088.1:c.*4938_*4939del	ENSP00000508064.1:n.*4938_*4939del
ENST00000682096.1:n.4447_4448del
ENST00000682113.1:n.4214_4215del
ENST00000682146.1:n.3154_3155del
ENST00000682187.1:c.*1421_*1422del	ENSP00000507203.1:n.*1421_*1422del
ENST00000682188.1:c.2042_2043del	ENSP00000507655.1:p.Thr681ArgfsTer?
ENST00000682201.1:n.1988_1989del
ENST00000682205.1:c.1997_1998del	ENSP00000508377.1:p.Thr666ArgfsTer?
ENST00000682348.1:c.*1046_*1047del	ENSP00000506965.1:n.*1046_*1047del
ENST00000682360.1:c.1400_1401del	ENSP00000508007.1:p.Thr467ArgfsTer?
ENST00000682370.1:n.3363_3364del
ENST00000682420.1:n.2544_2545del
ENST00000682429.1:c.*666_*667del	ENSP00000506827.1:n.*666_*667del
ENST00000682449.1:c.*748_*749del	ENSP00000507836.1:n.*748_*749del
ENST00000682470.1:c.1997_1998del	ENSP00000507654.1:p.Thr666ArgfsTer?
ENST00000682473.1:n.1962_1963del
ENST00000682482.1:c.1871_1872del	ENSP00000507903.1:p.Thr624ArgfsTer?
ENST00000682492.1:n.2085_2086del
ENST00000682493.1:c.*592_*593del	ENSP00000506778.1:n.*592_*593del
ENST00000682543.1:c.*1421_*1422del	ENSP00000507592.1:n.*1421_*1422del
ENST00000682597.1:n.4184_4185del
ENST00000682658.1:c.*1029_*1030del	ENSP00000507773.1:n.*1029_*1030del
ENST00000682705.1:n.3066_3067del
ENST00000682723.1:c.*76_*77del	ENSP00000507115.1:n.*76_*77del
ENST00000682735.1:c.*3665_*3666del	ENSP00000507007.1:n.*3665_*3666del
ENST00000682737.1:c.1400_1401del	ENSP00000506876.1:p.Thr467ArgfsTer?
ENST00000682757.1:n.3690_3691del
ENST00000682855.1:c.1997_1998del	ENSP00000507027.1:p.Thr666ArgfsTer?
ENST00000682875.1:c.*76_*77del	ENSP00000507771.1:n.*76_*77del
ENST00000682930.1:c.1922_1923del	ENSP00000507981.1:p.Thr641ArgfsTer?
ENST00000682948.1:n.3029_3030del
ENST00000682960.1:n.4238_4239del
ENST00000683008.1:n.5452_5453del
ENST00000683020.1:c.*538_*539del	ENSP00000507944.1:n.*538_*539del
ENST00000683099.1:n.4026_4027del
ENST00000683170.1:n.3722_3723del
ENST00000683212.1:c.*538_*539del	ENSP00000507839.1:n.*538_*539del
ENST00000683248.1:n.3955_3956del
ENST00000683343.1:n.2851_2852del
ENST00000683347.1:n.2204_2205del
ENST00000683384.1:c.2018_2019del	ENSP00000508330.1:n.2018_2019del
ENST00000683396.1:n.4774_4775del
ENST00000683410.1:n.2478_2479del
ENST00000683443.1:n.1631_1632del
ENST00000683485.1:n.4565_4566del
ENST00000683504.1:n.7588_7589del
ENST00000683533.1:c.*1421_*1422del	ENSP00000508296.1:n.*1421_*1422del
ENST00000683609.1:n.4066_4067del
ENST00000683644.1:c.*1171_*1172del	ENSP00000507914.1:n.*1171_*1172del
ENST00000683690.1:c.*3449_*3450del	ENSP00000508152.1:n.*3449_*3450del
ENST00000683757.1:n.1986_1987del
ENST00000683858.1:c.1949_1950del	ENSP00000507657.1:p.Thr650ArgfsTer?
ENST00000683875.1:c.1769_1770del	ENSP00000507602.1:p.Thr590ArgfsTer?
ENST00000683904.1:n.4302_4303del
ENST00000683910.1:n.4692_4693del
ENST00000683959.1:c.*1046_*1047del	ENSP00000508309.1:n.*1046_*1047del
ENST00000683976.1:c.*1546_*1547del	ENSP00000507183.1:n.*1546_*1547del
ENST00000683978.1:n.2140_2141del
ENST00000683992.1:c.*1637_*1638del	ENSP00000508144.1:n.*1637_*1638del
ENST00000684020.1:n.2419_2420del
ENST00000684044.1:n.2985_2986del
ENST00000684057.1:n.2915_2916del
ENST00000684076.1:n.3377_3378del
ENST00000684128.1:n.3565_3566del
ENST00000684194.1:n.3628_3629del
ENST00000684205.1:n.3676_3677del
ENST00000684246.1:c.*1637_*1638del	ENSP00000508273.1:n.*1637_*1638del
ENST00000684388.1:c.917_918del	ENSP00000507647.1:p.Thr306ArgfsTer?
ENST00000684402.1:n.3238_3239del
ENST00000684446.1:n.3481_3482del
ENST00000684531.1:n.3439_3440del
ENST00000684635.1:c.1892_1893del	ENSP00000507335.1:p.Thr631ArgfsTer?
ENST00000684640.1:c.1959_1960del	ENSP00000507292.1:n.1959_1960del
ENST00000684673.1:c.*592_*593del	ENSP00000507746.1:n.*592_*593del
ENST00000684684.1:c.*1249_*1250del	ENSP00000507026.1:n.*1249_*1250del
ENST00000245157.11:c.1997_1998del MANE Select	ENSP00000245157.5:p.Thr666ArgfsTer?
ENST00000245157.9:c.1997_1998del	ENSP00000245157.5:p.Thr666ArgfsTer?
ENST00000562813.1:n.3484_3485del
ENST00000564123.6:c.87_88del
ENST00000564459.5:c.260_261del	ENSP00000463731.1:p.Thr87ArgfsTer?
ENST00000565781.5:n.5528_5529del
ENST00000568104.5:c.1859_1860del	ENSP00000456289.1:p.Thr620ArgfsTer?
ENST00000569192.5:n.671_672del
NM_031885.3:c.1997_1998del	NP_114091.3:p.Thr666ArgfsTer?
XM_005256080.1:c.1997_1998del	XP_005256137.1:p.Thr666ArgfsTer?
XM_005256080.2:c.1997_1998del	XP_005256137.1:p.Thr666ArgfsTer?
XR_001751958.1:n.2358_2359del
XR_001751959.2:n.2355_2356del
XR_001751960.1:n.2058_2059del
XR_001751961.1:n.2058_2059del
XR_933380.2:n.2186_2187del
NM_031885.4:c.1997_1998del	NP_114091.3:p.Thr666ArgfsTer?
NM_001377456.1:c.1997_1998del	NP_001364385.1:p.Thr666ArgfsTer?
NM_031885.5:c.1997_1998del MANE Select	NP_114091.4:p.Thr666ArgfsTer?
NR_165293.1:n.2287_2288del
NR_165294.1:n.2284_2285del
NR_165295.1:n.2115_2116del
NR_165296.1:n.1987_1988del
NR_165297.1:n.1987_1988del