Canonical Allele Identifier: CA8065517

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56484799G>A , CM000678.2:g.56484799G>A	GRCh38
NC_000016.9:g.56518711G>A , CM000678.1:g.56518711G>A	GRCh37
NC_000016.8:g.55076212G>A	NCBI36
NG_009312.1:g.40485C>T
NG_009312.2:g.40226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561877.2:c.2115C>T	ENSP00000454986.2:n.2115C>T
ENST00000562813.2:n.3615C>T
ENST00000564123.7:n.973C>T
ENST00000564459.6:n.855C>T
ENST00000565781.6:n.5659C>T
ENST00000565859.2:n.3202C>T
ENST00000566210.2:n.2557C>T
ENST00000566410.2:n.5642C>T
ENST00000566452.2:n.3251C>T
ENST00000568104.6:c.1990C>T	ENSP00000456289.1:p.Leu664=
ENST00000569192.6:n.1233C>T
ENST00000618027.2:n.907C>T
ENST00000682000.1:n.1686C>T
ENST00000682001.1:n.3157C>T
ENST00000682038.1:c.*1517C>T	ENSP00000508404.1:n.*1517C>T
ENST00000682047.1:c.2128C>T	ENSP00000507699.1:p.Leu710=
ENST00000682088.1:c.*5069C>T	ENSP00000508064.1:n.*5069C>T
ENST00000682096.1:n.4578C>T
ENST00000682113.1:n.4345C>T
ENST00000682146.1:n.3285C>T
ENST00000682187.1:c.*1552C>T	ENSP00000507203.1:n.*1552C>T
ENST00000682188.1:c.2173C>T	ENSP00000507655.1:p.Leu725=
ENST00000682201.1:n.2119C>T
ENST00000682205.1:c.2128C>T	ENSP00000508377.1:p.Leu710=
ENST00000682348.1:c.*1177C>T	ENSP00000506965.1:n.*1177C>T
ENST00000682360.1:c.1531C>T	ENSP00000508007.1:p.Leu511=
ENST00000682370.1:n.3494C>T
ENST00000682420.1:n.2675C>T
ENST00000682429.1:c.*797C>T	ENSP00000506827.1:n.*797C>T
ENST00000682449.1:c.*879C>T	ENSP00000507836.1:n.*879C>T
ENST00000682470.1:c.2128C>T	ENSP00000507654.1:p.Leu710=
ENST00000682473.1:n.2093C>T
ENST00000682482.1:c.2002C>T	ENSP00000507903.1:p.Leu668=
ENST00000682492.1:n.2216C>T
ENST00000682493.1:c.*723C>T	ENSP00000506778.1:n.*723C>T
ENST00000682543.1:c.*1552C>T	ENSP00000507592.1:n.*1552C>T
ENST00000682597.1:n.4315C>T
ENST00000682658.1:c.*1160C>T	ENSP00000507773.1:n.*1160C>T
ENST00000682705.1:n.3197C>T
ENST00000682723.1:c.*207C>T	ENSP00000507115.1:n.*207C>T
ENST00000682735.1:c.*3796C>T	ENSP00000507007.1:n.*3796C>T
ENST00000682737.1:c.1531C>T	ENSP00000506876.1:p.Leu511=
ENST00000682757.1:n.3821C>T
ENST00000682855.1:c.2128C>T	ENSP00000507027.1:p.Leu710=
ENST00000682875.1:c.*207C>T	ENSP00000507771.1:n.*207C>T
ENST00000682930.1:c.2053C>T	ENSP00000507981.1:p.Leu685=
ENST00000682948.1:n.3160C>T
ENST00000682960.1:n.4369C>T
ENST00000683008.1:n.5583C>T
ENST00000683020.1:c.*669C>T	ENSP00000507944.1:n.*669C>T
ENST00000683099.1:n.4157C>T
ENST00000683170.1:n.3853C>T
ENST00000683212.1:c.*669C>T	ENSP00000507839.1:n.*669C>T
ENST00000683248.1:n.4086C>T
ENST00000683343.1:n.2982C>T
ENST00000683347.1:n.2335C>T
ENST00000683384.1:c.2149C>T	ENSP00000508330.1:n.2149C>T
ENST00000683396.1:n.4905C>T
ENST00000683410.1:n.2609C>T
ENST00000683443.1:n.1762C>T
ENST00000683485.1:n.4696C>T
ENST00000683504.1:n.7719C>T
ENST00000683533.1:c.*1552C>T	ENSP00000508296.1:n.*1552C>T
ENST00000683609.1:n.4197C>T
ENST00000683644.1:c.*1302C>T	ENSP00000507914.1:n.*1302C>T
ENST00000683690.1:c.*3580C>T	ENSP00000508152.1:n.*3580C>T
ENST00000683757.1:n.2117C>T
ENST00000683858.1:c.2080C>T	ENSP00000507657.1:p.Leu694=
ENST00000683875.1:c.1900C>T	ENSP00000507602.1:p.Leu634=
ENST00000683904.1:n.4433C>T
ENST00000683910.1:n.4823C>T
ENST00000683959.1:c.*1177C>T	ENSP00000508309.1:n.*1177C>T
ENST00000683976.1:c.*1677C>T	ENSP00000507183.1:n.*1677C>T
ENST00000683978.1:n.2271C>T
ENST00000683992.1:c.*1768C>T	ENSP00000508144.1:n.*1768C>T
ENST00000684020.1:n.2550C>T
ENST00000684044.1:n.3116C>T
ENST00000684057.1:n.3046C>T
ENST00000684076.1:n.3508C>T
ENST00000684128.1:n.3696C>T
ENST00000684194.1:n.3759C>T
ENST00000684205.1:n.3807C>T
ENST00000684246.1:c.*1768C>T	ENSP00000508273.1:n.*1768C>T
ENST00000684388.1:c.1048C>T	ENSP00000507647.1:p.Leu350=
ENST00000684402.1:n.3369C>T
ENST00000684446.1:n.3612C>T
ENST00000684531.1:n.3570C>T
ENST00000684635.1:c.2023C>T	ENSP00000507335.1:p.Leu675=
ENST00000684640.1:c.2090C>T	ENSP00000507292.1:n.2090C>T
ENST00000684673.1:c.*723C>T	ENSP00000507746.1:n.*723C>T
ENST00000684684.1:c.*1380C>T	ENSP00000507026.1:n.*1380C>T
ENST00000245157.11:c.2128C>T MANE Select	ENSP00000245157.5:p.Leu710=
ENST00000245157.9:c.2128C>T	ENSP00000245157.5:p.Leu710=
ENST00000562813.1:n.3615C>T
ENST00000564123.6:c.218C>T
ENST00000564459.5:c.391C>T	ENSP00000463731.1:p.Leu131=
ENST00000565781.5:n.5659C>T
ENST00000568104.5:c.1990C>T	ENSP00000456289.1:p.Leu664=
NM_031885.3:c.2128C>T	NP_114091.3:p.Leu710=
XM_005256080.1:c.2128C>T	XP_005256137.1:p.Leu710=
XM_005256080.2:c.2128C>T	XP_005256137.1:p.Leu710=
XR_001751958.1:n.2489C>T
XR_001751959.2:n.2486C>T
XR_001751960.1:n.2189C>T
XR_001751961.1:n.2189C>T
XR_933380.2:n.2317C>T
NM_031885.4:c.2128C>T	NP_114091.3:p.Leu710=
NM_001377456.1:c.2128C>T	NP_001364385.1:p.Leu710=
NM_031885.5:c.2128C>T MANE Select	NP_114091.4:p.Leu710=
NR_165293.1:n.2418C>T
NR_165294.1:n.2415C>T
NR_165295.1:n.2246C>T
NR_165296.1:n.2118C>T
NR_165297.1:n.2118C>T