Canonical Allele Identifier: CA395973415

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56485680C>A , CM000678.2:g.56485680C>A	GRCh38
NC_000016.9:g.56519592C>A , CM000678.1:g.56519592C>A	GRCh37
NC_000016.8:g.55077093C>A	NCBI36
NG_009312.1:g.39604G>T
NG_009312.2:g.39345G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561877.2:c.1956G>T	ENSP00000454986.2:n.1956G>T
ENST00000562813.2:n.3456G>T
ENST00000564123.7:n.814G>T
ENST00000564459.6:n.696G>T
ENST00000565781.6:n.5500G>T
ENST00000565859.2:n.3043G>T
ENST00000566210.2:n.2398G>T
ENST00000566410.2:n.5483G>T
ENST00000566452.2:n.3092G>T
ENST00000568104.6:c.1831G>T	ENSP00000456289.1:p.Gly611Ter
ENST00000569192.6:n.1074G>T
ENST00000618027.2:n.748G>T
ENST00000682000.1:n.1527G>T
ENST00000682001.1:n.2998G>T
ENST00000682038.1:c.*1358G>T	ENSP00000508404.1:n.*1358G>T
ENST00000682047.1:c.1969G>T	ENSP00000507699.1:p.Gly657Ter
ENST00000682088.1:c.*4910G>T	ENSP00000508064.1:n.*4910G>T
ENST00000682096.1:n.4419G>T
ENST00000682113.1:n.4186G>T
ENST00000682146.1:n.3126G>T
ENST00000682187.1:c.*1393G>T	ENSP00000507203.1:n.*1393G>T
ENST00000682188.1:c.2014G>T	ENSP00000507655.1:p.Gly672Ter
ENST00000682201.1:n.1960G>T
ENST00000682205.1:c.1969G>T	ENSP00000508377.1:p.Gly657Ter
ENST00000682348.1:c.*1018G>T	ENSP00000506965.1:n.*1018G>T
ENST00000682360.1:c.1372G>T	ENSP00000508007.1:p.Gly458Ter
ENST00000682370.1:n.3335G>T
ENST00000682420.1:n.2516G>T
ENST00000682429.1:c.*638G>T	ENSP00000506827.1:n.*638G>T
ENST00000682449.1:c.*720G>T	ENSP00000507836.1:n.*720G>T
ENST00000682470.1:c.1969G>T	ENSP00000507654.1:p.Gly657Ter
ENST00000682473.1:n.1934G>T
ENST00000682482.1:c.1843G>T	ENSP00000507903.1:p.Gly615Ter
ENST00000682492.1:n.2057G>T
ENST00000682493.1:c.*564G>T	ENSP00000506778.1:n.*564G>T
ENST00000682543.1:c.*1393G>T	ENSP00000507592.1:n.*1393G>T
ENST00000682597.1:n.4156G>T
ENST00000682658.1:c.*1001G>T	ENSP00000507773.1:n.*1001G>T
ENST00000682705.1:n.3038G>T
ENST00000682723.1:c.*48G>T	ENSP00000507115.1:n.*48G>T
ENST00000682735.1:c.*3637G>T	ENSP00000507007.1:n.*3637G>T
ENST00000682737.1:c.1372G>T	ENSP00000506876.1:p.Gly458Ter
ENST00000682757.1:n.3662G>T
ENST00000682855.1:c.1969G>T	ENSP00000507027.1:p.Gly657Ter
ENST00000682875.1:c.*48G>T	ENSP00000507771.1:n.*48G>T
ENST00000682930.1:c.1894G>T	ENSP00000507981.1:p.Gly632Ter
ENST00000682948.1:n.3001G>T
ENST00000682960.1:n.4210G>T
ENST00000683008.1:n.5424G>T
ENST00000683020.1:c.*510G>T	ENSP00000507944.1:n.*510G>T
ENST00000683099.1:n.3998G>T
ENST00000683170.1:n.3694G>T
ENST00000683212.1:c.*510G>T	ENSP00000507839.1:n.*510G>T
ENST00000683248.1:n.3927G>T
ENST00000683343.1:n.2823G>T
ENST00000683347.1:n.2176G>T
ENST00000683384.1:c.1990G>T	ENSP00000508330.1:n.1990G>T
ENST00000683396.1:n.4746G>T
ENST00000683410.1:n.2450G>T
ENST00000683443.1:n.1603G>T
ENST00000683485.1:n.4537G>T
ENST00000683504.1:n.7560G>T
ENST00000683533.1:c.*1393G>T	ENSP00000508296.1:n.*1393G>T
ENST00000683609.1:n.4038G>T
ENST00000683644.1:c.*1143G>T	ENSP00000507914.1:n.*1143G>T
ENST00000683690.1:c.*3421G>T	ENSP00000508152.1:n.*3421G>T
ENST00000683757.1:n.1958G>T
ENST00000683858.1:c.1921G>T	ENSP00000507657.1:p.Gly641Ter
ENST00000683875.1:c.1741G>T	ENSP00000507602.1:p.Gly581Ter
ENST00000683904.1:n.4274G>T
ENST00000683910.1:n.4664G>T
ENST00000683959.1:c.*1018G>T	ENSP00000508309.1:n.*1018G>T
ENST00000683976.1:c.*1518G>T	ENSP00000507183.1:n.*1518G>T
ENST00000683978.1:n.2112G>T
ENST00000683992.1:c.*1609G>T	ENSP00000508144.1:n.*1609G>T
ENST00000684020.1:n.2391G>T
ENST00000684044.1:n.2957G>T
ENST00000684057.1:n.2887G>T
ENST00000684076.1:n.3349G>T
ENST00000684128.1:n.3537G>T
ENST00000684194.1:n.3600G>T
ENST00000684205.1:n.3648G>T
ENST00000684246.1:c.*1609G>T	ENSP00000508273.1:n.*1609G>T
ENST00000684388.1:c.889G>T	ENSP00000507647.1:p.Gly297Ter
ENST00000684402.1:n.3210G>T
ENST00000684446.1:n.3453G>T
ENST00000684531.1:n.3411G>T
ENST00000684635.1:c.1864G>T	ENSP00000507335.1:p.Gly622Ter
ENST00000684640.1:c.1931G>T	ENSP00000507292.1:n.1931G>T
ENST00000684673.1:c.*564G>T	ENSP00000507746.1:n.*564G>T
ENST00000684684.1:c.*1221G>T	ENSP00000507026.1:n.*1221G>T
ENST00000245157.11:c.1969G>T MANE Select	ENSP00000245157.5:p.Gly657Ter
ENST00000245157.9:c.1969G>T	ENSP00000245157.5:p.Gly657Ter
ENST00000562813.1:n.3456G>T
ENST00000564123.6:c.59G>T
ENST00000564459.5:c.232G>T	ENSP00000463731.1:p.Gly78Ter
ENST00000565781.5:n.5500G>T
ENST00000568104.5:c.1831G>T	ENSP00000456289.1:p.Gly611Ter
ENST00000569192.5:n.643G>T
NM_031885.3:c.1969G>T	NP_114091.3:p.Gly657Ter
XM_005256080.1:c.1969G>T	XP_005256137.1:p.Gly657Ter
XM_005256080.2:c.1969G>T	XP_005256137.1:p.Gly657Ter
XR_001751958.1:n.2330G>T
XR_001751959.2:n.2327G>T
XR_001751960.1:n.2030G>T
XR_001751961.1:n.2030G>T
XR_933380.2:n.2158G>T
NM_031885.4:c.1969G>T	NP_114091.3:p.Gly657Ter
NM_001377456.1:c.1969G>T	NP_001364385.1:p.Gly657Ter
NM_031885.5:c.1969G>T MANE Select	NP_114091.4:p.Gly657Ter
NR_165293.1:n.2259G>T
NR_165294.1:n.2256G>T
NR_165295.1:n.2087G>T
NR_165296.1:n.1959G>T
NR_165297.1:n.1959G>T