Canonical Allele Identifier: CA2695223420

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56514620_56514621insTCCAGAGCCCC , CM000678.2:g.56514620_56514621insTCCAGAGCCCC	GRCh38
NC_000016.9:g.56548532_56548533insTCCAGAGCCCC , CM000678.1:g.56548532_56548533insTCCAGAGCCCC	GRCh37
NC_000016.8:g.55106033_55106034insTCCAGAGCCCC	NCBI36
NG_009312.1:g.10663_10664insGGGGCTCTGGA
NG_009312.2:g.10404_10405insGGGGCTCTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562012.2:c.*151_*152insGGGGCTCTGGA	ENSP00000455651.2:n.*151_*152insGGGGCTCTGGA
ENST00000562059.2:n.174_175insGGGGCTCTGGA
ENST00000565378.2:n.60_61insGGGGCTCTGGA
ENST00000565781.6:n.191_192insGGGGCTCTGGA
ENST00000566410.2:n.390_391insGGGGCTCTGGA
ENST00000568104.6:c.177_178insGGGGCTCTGGA	ENSP00000456289.1:p.Ser60GlyfsTer23
ENST00000569342.6:n.350_351insGGGGCTCTGGA
ENST00000569941.6:c.-297_-296insGGGGCTCTGGA	ENSP00000456741.2:n.-297_-296insGGGGCTCTGGA
ENST00000682001.1:n.171_172insGGGGCTCTGGA
ENST00000682005.1:n.168_169insGGGGCTCTGGA
ENST00000682021.1:n.187_188insGGGGCTCTGGA
ENST00000682038.1:c.177_178insGGGGCTCTGGA	ENSP00000508404.1:p.Ser60GlyfsTer23
ENST00000682047.1:c.177_178insGGGGCTCTGGA	ENSP00000507699.1:p.Ser60GlyfsTer23
ENST00000682088.1:c.177_178insGGGGCTCTGGA	ENSP00000508064.1:p.Ser60GlyfsTer23
ENST00000682096.1:n.383_384insGGGGCTCTGGA
ENST00000682113.1:n.150_151insGGGGCTCTGGA
ENST00000682146.1:n.390_391insGGGGCTCTGGA
ENST00000682187.1:c.177_178insGGGGCTCTGGA	ENSP00000507203.1:p.Ser60GlyfsTer23
ENST00000682188.1:c.177_178insGGGGCTCTGGA	ENSP00000507655.1:p.Ser60GlyfsTer23
ENST00000682201.1:n.168_169insGGGGCTCTGGA
ENST00000682205.1:c.177_178insGGGGCTCTGGA	ENSP00000508377.1:p.Ser60GlyfsTer23
ENST00000682348.1:c.177_178insGGGGCTCTGGA	ENSP00000506965.1:p.Ser60GlyfsTer23
ENST00000682360.1:c.-421_-420insGGGGCTCTGGA	ENSP00000508007.1:n.-421_-420insGGGGCTCTGGA
ENST00000682370.1:n.383_384insGGGGCTCTGGA
ENST00000682420.1:n.383_384insGGGGCTCTGGA
ENST00000682429.1:c.177_178insGGGGCTCTGGA	ENSP00000506827.1:p.Ser60GlyfsTer23
ENST00000682449.1:c.177_178insGGGGCTCTGGA	ENSP00000507836.1:p.Ser60GlyfsTer23
ENST00000682470.1:c.177_178insGGGGCTCTGGA	ENSP00000507654.1:p.Ser60GlyfsTer23
ENST00000682473.1:n.142_143insGGGGCTCTGGA
ENST00000682482.1:c.177_178insGGGGCTCTGGA	ENSP00000507903.1:p.Ser60GlyfsTer23
ENST00000682492.1:n.221_222insGGGGCTCTGGA
ENST00000682493.1:c.177_178insGGGGCTCTGGA	ENSP00000506778.1:p.Ser60GlyfsTer23
ENST00000682543.1:c.177_178insGGGGCTCTGGA	ENSP00000507592.1:p.Ser60GlyfsTer23
ENST00000682561.1:n.186_187insGGGGCTCTGGA
ENST00000682597.1:n.383_384insGGGGCTCTGGA
ENST00000682658.1:c.177_178insGGGGCTCTGGA	ENSP00000507773.1:p.Ser60GlyfsTer23
ENST00000682705.1:n.383_384insGGGGCTCTGGA
ENST00000682723.1:c.-421_-420insGGGGCTCTGGA	ENSP00000507115.1:n.-421_-420insGGGGCTCTGGA
ENST00000682735.1:c.177_178insGGGGCTCTGGA	ENSP00000507007.1:p.Ser60GlyfsTer23
ENST00000682737.1:c.-421_-420insGGGGCTCTGGA	ENSP00000506876.1:n.-421_-420insGGGGCTCTGGA
ENST00000682757.1:n.383_384insGGGGCTCTGGA
ENST00000682855.1:c.177_178insGGGGCTCTGGA	ENSP00000507027.1:p.Ser60GlyfsTer23
ENST00000682857.1:n.390_391insGGGGCTCTGGA
ENST00000682875.1:c.177_178insGGGGCTCTGGA	ENSP00000507771.1:p.Ser60GlyfsTer23
ENST00000682919.1:n.139_140insGGGGCTCTGGA
ENST00000682930.1:c.102_103insGGGGCTCTGGA	ENSP00000507981.1:p.Ser35GlyfsTer23
ENST00000682948.1:n.390_391insGGGGCTCTGGA
ENST00000682960.1:n.390_391insGGGGCTCTGGA
ENST00000683008.1:n.383_384insGGGGCTCTGGA
ENST00000683020.1:c.177_178insGGGGCTCTGGA	ENSP00000507944.1:p.Ser60GlyfsTer23
ENST00000683099.1:n.383_384insGGGGCTCTGGA
ENST00000683170.1:n.321_322insGGGGCTCTGGA
ENST00000683212.1:c.177_178insGGGGCTCTGGA	ENSP00000507839.1:p.Ser60GlyfsTer23
ENST00000683248.1:n.383_384insGGGGCTCTGGA
ENST00000683343.1:n.168_169insGGGGCTCTGGA
ENST00000683347.1:n.168_169insGGGGCTCTGGA
ENST00000683384.1:c.60_61insGGGGCTCTGGA	ENSP00000508330.1:p.Ser21GlyfsTer23
ENST00000683396.1:n.383_384insGGGGCTCTGGA
ENST00000683410.1:n.383_384insGGGGCTCTGGA
ENST00000683485.1:n.390_391insGGGGCTCTGGA
ENST00000683504.1:n.383_384insGGGGCTCTGGA
ENST00000683533.1:c.-421_-420insGGGGCTCTGGA	ENSP00000508296.1:n.-421_-420insGGGGCTCTGGA
ENST00000683609.1:n.390_391insGGGGCTCTGGA
ENST00000683644.1:c.177_178insGGGGCTCTGGA	ENSP00000507914.1:p.Ser60GlyfsTer23
ENST00000683660.1:n.390_391insGGGGCTCTGGA
ENST00000683669.1:n.60_61insGGGGCTCTGGA
ENST00000683690.1:c.177_178insGGGGCTCTGGA	ENSP00000508152.1:p.Ser60GlyfsTer23
ENST00000683719.1:n.160_161insGGGGCTCTGGA
ENST00000683757.1:n.166_167insGGGGCTCTGGA
ENST00000683858.1:c.177_178insGGGGCTCTGGA	ENSP00000507657.1:p.Ser60GlyfsTer23
ENST00000683875.1:c.118-3337_118-3336insGGGGCTCTGGA	ENSP00000507602.1:n.118-3337_118-3336insGGGGCTCTGGA
ENST00000683904.1:n.390_391insGGGGCTCTGGA
ENST00000683910.1:n.390_391insGGGGCTCTGGA
ENST00000683959.1:c.-421_-420insGGGGCTCTGGA	ENSP00000508309.1:n.-421_-420insGGGGCTCTGGA
ENST00000683976.1:c.177_178insGGGGCTCTGGA	ENSP00000507183.1:p.Ser60GlyfsTer23
ENST00000683978.1:n.320_321insGGGGCTCTGGA
ENST00000683992.1:c.177_178insGGGGCTCTGGA	ENSP00000508144.1:p.Ser60GlyfsTer23
ENST00000684020.1:n.383_384insGGGGCTCTGGA
ENST00000684044.1:n.390_391insGGGGCTCTGGA
ENST00000684057.1:n.379_380insGGGGCTCTGGA
ENST00000684076.1:n.348_349insGGGGCTCTGGA
ENST00000684128.1:n.383_384insGGGGCTCTGGA
ENST00000684194.1:n.383_384insGGGGCTCTGGA
ENST00000684205.1:n.221_222insGGGGCTCTGGA
ENST00000684246.1:c.177_178insGGGGCTCTGGA	ENSP00000508273.1:p.Ser60GlyfsTer23
ENST00000684402.1:n.383_384insGGGGCTCTGGA
ENST00000684446.1:n.390_391insGGGGCTCTGGA
ENST00000684531.1:n.410_411insGGGGCTCTGGA
ENST00000684635.1:c.177_178insGGGGCTCTGGA	ENSP00000507335.1:p.Ser60GlyfsTer23
ENST00000684640.1:c.60_61insGGGGCTCTGGA	ENSP00000507292.1:p.Ser21GlyfsTer23
ENST00000684673.1:c.177_178insGGGGCTCTGGA	ENSP00000507746.1:p.Ser60GlyfsTer23
ENST00000684684.1:c.177_178insGGGGCTCTGGA	ENSP00000507026.1:p.Ser60GlyfsTer23
ENST00000245157.11:c.177_178insGGGGCTCTGGA MANE Select	ENSP00000245157.5:p.Ser60GlyfsTer23
ENST00000245157.9:c.177_178insGGGGCTCTGGA	ENSP00000245157.5:p.Ser60GlyfsTer23
ENST00000565378.1:n.160_161insGGGGCTCTGGA
ENST00000565781.5:n.191_192insGGGGCTCTGGA
ENST00000566689.5:n.168_169insGGGGCTCTGGA
ENST00000568104.5:c.177_178insGGGGCTCTGGA	ENSP00000456289.1:p.Ser60GlyfsTer23
ENST00000569342.5:n.311_312insGGGGCTCTGGA
ENST00000569941.5:c.-421_-420insGGGGCTCTGGA	ENSP00000456741.1:n.-421_-420insGGGGCTCTGGA
NM_031885.3:c.177_178insGGGGCTCTGGA	NP_114091.3:p.Ser60GlyfsTer23
XM_005256080.1:c.177_178insGGGGCTCTGGA	XP_005256137.1:p.Ser60GlyfsTer23
XM_005256081.1:c.177_178insGGGGCTCTGGA	XP_005256138.1:p.Ser60GlyfsTer23
XM_005256082.1:c.177_178insGGGGCTCTGGA	XP_005256139.1:p.Ser60GlyfsTer23
XM_011523251.1:c.177_178insGGGGCTCTGGA	XP_011521553.1:p.Ser60GlyfsTer23
XR_933378.1:n.410_411insGGGGCTCTGGA
XR_933379.1:n.410_411insGGGGCTCTGGA
XR_933380.1:n.410_411insGGGGCTCTGGA
XM_005256080.2:c.177_178insGGGGCTCTGGA	XP_005256137.1:p.Ser60GlyfsTer23
XR_001751958.1:n.410_411insGGGGCTCTGGA
XR_001751959.2:n.410_411insGGGGCTCTGGA
XR_001751960.1:n.410_411insGGGGCTCTGGA
XR_001751961.1:n.410_411insGGGGCTCTGGA
XR_933380.2:n.410_411insGGGGCTCTGGA
NM_031885.4:c.177_178insGGGGCTCTGGA	NP_114091.3:p.Ser60GlyfsTer23
NM_001377456.1:c.177_178insGGGGCTCTGGA	NP_001364385.1:p.Ser60GlyfsTer23
NM_031885.5:c.177_178insGGGGCTCTGGA MANE Select	NP_114091.4:p.Ser60GlyfsTer23
NR_165293.1:n.339_340insGGGGCTCTGGA
NR_165294.1:n.339_340insGGGGCTCTGGA
NR_165295.1:n.339_340insGGGGCTCTGGA
NR_165296.1:n.339_340insGGGGCTCTGGA
NR_165297.1:n.339_340insGGGGCTCTGGA