Canonical Allele Identifier: CA8065623

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56497730C>T , CM000678.2:g.56497730C>T	GRCh38
NC_000016.9:g.56531642C>T , CM000678.1:g.56531642C>T	GRCh37
NC_000016.8:g.55089143C>T	NCBI36
NG_009312.1:g.27554G>A
NG_009312.2:g.27295G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031885.5:c.1797+13G>A MANE Select	NP_114091.4:n.1797+13G>A
ENST00000245157.11:c.1797+13G>A MANE Select	ENSP00000245157.5:n.1797+13G>A
NM_001377456.1:c.1797+13G>A	NP_001364385.1:n.1797+13G>A
NM_031885.3:c.1797+13G>A	NP_114091.3:n.1797+13G>A
NM_031885.4:c.1797+13G>A	NP_114091.3:n.1797+13G>A
NR_165293.1:n.2087+13G>A
NR_165294.1:n.2084+13G>A
NR_165295.1:n.1915+13G>A
NR_165296.1:n.1787+13G>A
NR_165297.1:n.1787+13G>A
ENST00000245157.9:c.1797+13G>A	ENSP00000245157.5:n.1797+13G>A
ENST00000561877.2:c.1784+13G>A	ENSP00000454986.2:n.1784+13G>A
ENST00000562813.1:n.2634G>A
ENST00000562813.2:n.2634G>A
ENST00000564459.5:c.60+13G>A	ENSP00000463731.1:n.60+13G>A
ENST00000564459.6:n.524+13G>A
ENST00000565781.5:n.5328+13G>A
ENST00000565781.6:n.5328+13G>A
ENST00000565859.2:n.2871+13G>A
ENST00000566210.2:n.2226+13G>A
ENST00000566410.2:n.5311+13G>A
ENST00000566452.2:n.2270G>A
ENST00000566495.2:n.766+13G>A
ENST00000568104.5:c.1660-651G>A	ENSP00000456289.1:n.1660-651G>A
ENST00000568104.6:c.1660-651G>A	ENSP00000456289.1:n.1660-651G>A
ENST00000569192.5:n.471+13G>A
ENST00000569192.6:n.902+13G>A
ENST00000618027.2:n.576+13G>A
ENST00000682000.1:n.1355+13G>A
ENST00000682001.1:n.2826+13G>A
ENST00000682005.1:n.1788+13G>A
ENST00000682038.1:c.*1186+13G>A	ENSP00000508404.1:n.*1186+13G>A
ENST00000682047.1:c.1797+13G>A	ENSP00000507699.1:n.1797+13G>A
ENST00000682088.1:c.*4738+13G>A	ENSP00000508064.1:n.*4738+13G>A
ENST00000682096.1:n.4247+13G>A
ENST00000682113.1:n.4014+13G>A
ENST00000682146.1:n.2954+13G>A
ENST00000682187.1:c.*1221+13G>A	ENSP00000507203.1:n.*1221+13G>A
ENST00000682188.1:c.1797+13G>A	ENSP00000507655.1:n.1797+13G>A
ENST00000682201.1:n.1788+13G>A
ENST00000682205.1:c.1797+13G>A	ENSP00000508377.1:n.1797+13G>A
ENST00000682348.1:c.*846+13G>A	ENSP00000506965.1:n.*846+13G>A
ENST00000682360.1:c.1200+13G>A	ENSP00000508007.1:n.1200+13G>A
ENST00000682370.1:n.3163+13G>A
ENST00000682420.1:n.2344+13G>A
ENST00000682429.1:c.*466+13G>A	ENSP00000506827.1:n.*466+13G>A
ENST00000682449.1:c.*548+13G>A	ENSP00000507836.1:n.*548+13G>A
ENST00000682470.1:c.1797+13G>A	ENSP00000507654.1:n.1797+13G>A
ENST00000682473.1:n.1762+13G>A
ENST00000682482.1:c.1671+13G>A	ENSP00000507903.1:n.1671+13G>A
ENST00000682492.1:n.1885+13G>A
ENST00000682493.1:c.*392+13G>A	ENSP00000506778.1:n.*392+13G>A
ENST00000682543.1:c.*1221+13G>A	ENSP00000507592.1:n.*1221+13G>A
ENST00000682597.1:n.3984+13G>A
ENST00000682623.1:n.398+13G>A
ENST00000682658.1:c.*829+13G>A	ENSP00000507773.1:n.*829+13G>A
ENST00000682705.1:n.2866+13G>A
ENST00000682723.1:c.1200+13G>A	ENSP00000507115.1:n.1200+13G>A
ENST00000682735.1:c.*3465+13G>A	ENSP00000507007.1:n.*3465+13G>A
ENST00000682737.1:c.1200+13G>A	ENSP00000506876.1:n.1200+13G>A
ENST00000682757.1:n.3490+13G>A
ENST00000682855.1:c.1797+13G>A	ENSP00000507027.1:n.1797+13G>A
ENST00000682875.1:c.1797+13G>A	ENSP00000507771.1:n.1797+13G>A
ENST00000682930.1:c.1722+13G>A	ENSP00000507981.1:n.1722+13G>A
ENST00000682948.1:n.2829+13G>A
ENST00000682960.1:n.4038+13G>A
ENST00000683008.1:n.5193+13G>A
ENST00000683020.1:c.*338+13G>A	ENSP00000507944.1:n.*338+13G>A
ENST00000683099.1:n.3176G>A
ENST00000683170.1:n.3522+13G>A
ENST00000683212.1:c.*338+13G>A	ENSP00000507839.1:n.*338+13G>A
ENST00000683248.1:n.3755+13G>A
ENST00000683343.1:n.2651+13G>A
ENST00000683347.1:n.2004+13G>A
ENST00000683384.1:c.1818+13G>A	ENSP00000508330.1:n.1818+13G>A
ENST00000683396.1:n.4574+13G>A
ENST00000683410.1:n.2219+13G>A
ENST00000683443.1:n.1431+13G>A
ENST00000683485.1:n.4365+13G>A
ENST00000683504.1:n.7388+13G>A
ENST00000683533.1:c.*1221+13G>A	ENSP00000508296.1:n.*1221+13G>A
ENST00000683609.1:n.3866+13G>A
ENST00000683644.1:c.*971+13G>A	ENSP00000507914.1:n.*971+13G>A
ENST00000683660.1:n.2010+13G>A
ENST00000683669.1:n.1680+13G>A
ENST00000683690.1:c.*3249+13G>A	ENSP00000508152.1:n.*3249+13G>A
ENST00000683719.1:n.1780+13G>A
ENST00000683757.1:n.1786+13G>A
ENST00000683858.1:c.1749+13G>A	ENSP00000507657.1:n.1749+13G>A
ENST00000683875.1:c.1569+13G>A	ENSP00000507602.1:n.1569+13G>A
ENST00000683904.1:n.4102+13G>A
ENST00000683910.1:n.4492+13G>A
ENST00000683959.1:c.*846+13G>A	ENSP00000508309.1:n.*846+13G>A
ENST00000683976.1:c.*1346+13G>A	ENSP00000507183.1:n.*1346+13G>A
ENST00000683978.1:n.1940+13G>A
ENST00000683992.1:c.*1437+13G>A	ENSP00000508144.1:n.*1437+13G>A
ENST00000684020.1:n.2219+13G>A
ENST00000684044.1:n.2785+13G>A
ENST00000684057.1:n.2715+13G>A
ENST00000684076.1:n.3177+13G>A
ENST00000684128.1:n.3365+13G>A
ENST00000684194.1:n.3428+13G>A
ENST00000684205.1:n.3476+13G>A
ENST00000684246.1:c.*1437+13G>A	ENSP00000508273.1:n.*1437+13G>A
ENST00000684388.1:c.717+13G>A	ENSP00000507647.1:n.717+13G>A
ENST00000684402.1:n.3038+13G>A
ENST00000684446.1:n.3281+13G>A
ENST00000684531.1:n.3239+13G>A
ENST00000684635.1:c.1692+13G>A	ENSP00000507335.1:n.1692+13G>A
ENST00000684640.1:c.1759+13G>A	ENSP00000507292.1:n.1759+13G>A
ENST00000684673.1:c.*392+13G>A	ENSP00000507746.1:n.*392+13G>A
ENST00000684684.1:c.*1049+13G>A	ENSP00000507026.1:n.*1049+13G>A
XM_005256080.1:c.1797+13G>A	XP_005256137.1:n.1797+13G>A
XM_005256080.2:c.1797+13G>A	XP_005256137.1:n.1797+13G>A
XR_001751958.1:n.2158+13G>A
XR_001751959.2:n.2155+13G>A
XR_001751960.1:n.1858+13G>A
XR_001751961.1:n.1858+13G>A
XR_933378.1:n.1858+13G>A
XR_933380.2:n.1986+13G>A