Canonical Allele Identifier: CA395979266

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56500853C>T , CM000678.2:g.56500853C>T	GRCh38
NC_000016.9:g.56534765C>T , CM000678.1:g.56534765C>T	GRCh37
NC_000016.8:g.55092266C>T	NCBI36
NG_009312.1:g.24431G>A
NG_009312.2:g.24172G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031885.5:c.1397+1G>A MANE Select	NP_114091.4:n.1397+1G>A
ENST00000245157.11:c.1397+1G>A MANE Select	ENSP00000245157.5:n.1397+1G>A
NM_001377456.1:c.1397+1G>A	NP_001364385.1:n.1397+1G>A
NM_031885.3:c.1397+1G>A	NP_114091.3:n.1397+1G>A
NM_031885.4:c.1397+1G>A	NP_114091.3:n.1397+1G>A
NR_165293.1:n.1559+1G>A
NR_165294.1:n.1559+1G>A
NR_165295.1:n.1387+500G>A
NR_165296.1:n.1387+500G>A
NR_165297.1:n.1387+500G>A
ENST00000245157.9:c.1397+1G>A	ENSP00000245157.5:n.1397+1G>A
ENST00000561877.1:c.93+1G>A
ENST00000561877.2:c.1259+1G>A	ENSP00000454986.2:n.1259+1G>A
ENST00000562012.1:c.789+1G>A	ENSP00000455651.1:n.789+1G>A
ENST00000562012.2:c.*1226+1G>A	ENSP00000455651.2:n.*1226+1G>A
ENST00000562059.2:n.2430G>A
ENST00000562813.1:n.67G>A
ENST00000562813.2:n.67G>A
ENST00000565781.5:n.2774G>A
ENST00000565781.6:n.2774G>A
ENST00000565859.2:n.2471+1G>A
ENST00000566210.1:n.323+1G>A
ENST00000566210.2:n.1826+1G>A
ENST00000566410.2:n.2757G>A
ENST00000566452.1:n.92+1G>A
ENST00000566495.1:n.366+1G>A
ENST00000566495.2:n.366+1G>A
ENST00000568104.5:c.1397+1G>A	ENSP00000456289.1:n.1397+1G>A
ENST00000568104.6:c.1397+1G>A	ENSP00000456289.1:n.1397+1G>A
ENST00000569342.6:n.2933G>A
ENST00000682000.1:n.955+1G>A
ENST00000682001.1:n.2426+1G>A
ENST00000682005.1:n.1388+1G>A
ENST00000682021.1:n.1780G>A
ENST00000682038.1:c.*661+1G>A	ENSP00000508404.1:n.*661+1G>A
ENST00000682047.1:c.1397+1G>A	ENSP00000507699.1:n.1397+1G>A
ENST00000682088.1:c.*2184G>A	ENSP00000508064.1:n.*2184G>A
ENST00000682096.1:n.2638+1G>A
ENST00000682113.1:n.2405+1G>A
ENST00000682146.1:n.2429+1G>A
ENST00000682187.1:c.*821+1G>A	ENSP00000507203.1:n.*821+1G>A
ENST00000682188.1:c.1397+1G>A	ENSP00000507655.1:n.1397+1G>A
ENST00000682201.1:n.1388+1G>A
ENST00000682205.1:c.1397+1G>A	ENSP00000508377.1:n.1397+1G>A
ENST00000682348.1:c.*446+1G>A	ENSP00000506965.1:n.*446+1G>A
ENST00000682360.1:c.800+1G>A	ENSP00000508007.1:n.800+1G>A
ENST00000682370.1:n.2638+1G>A
ENST00000682420.1:n.1819+1G>A
ENST00000682429.1:c.1225+500G>A	ENSP00000506827.1:n.1225+500G>A
ENST00000682449.1:c.*148+1G>A	ENSP00000507836.1:n.*148+1G>A
ENST00000682470.1:c.1397+1G>A	ENSP00000507654.1:n.1397+1G>A
ENST00000682473.1:n.1362+1G>A
ENST00000682482.1:c.1271+1G>A	ENSP00000507903.1:n.1271+1G>A
ENST00000682492.1:n.1485+500G>A
ENST00000682493.1:c.1397+1G>A	ENSP00000506778.1:n.1397+1G>A
ENST00000682543.1:c.*821+1G>A	ENSP00000507592.1:n.*821+1G>A
ENST00000682561.1:n.1407G>A
ENST00000682597.1:n.2639G>A
ENST00000682658.1:c.*429+1G>A	ENSP00000507773.1:n.*429+1G>A
ENST00000682705.1:n.2466+500G>A
ENST00000682723.1:c.800+1G>A	ENSP00000507115.1:n.800+1G>A
ENST00000682735.1:c.*1856+1G>A	ENSP00000507007.1:n.*1856+1G>A
ENST00000682737.1:c.800+1G>A	ENSP00000506876.1:n.800+1G>A
ENST00000682757.1:n.2965+1G>A
ENST00000682855.1:c.1397+1G>A	ENSP00000507027.1:n.1397+1G>A
ENST00000682857.1:n.1610+1G>A
ENST00000682875.1:c.1397+1G>A	ENSP00000507771.1:n.1397+1G>A
ENST00000682919.1:n.2860G>A
ENST00000682930.1:c.1322+1G>A	ENSP00000507981.1:n.1322+1G>A
ENST00000682948.1:n.2429+1G>A
ENST00000682960.1:n.2429+1G>A
ENST00000683008.1:n.2639G>A
ENST00000683020.1:c.1225+500G>A	ENSP00000507944.1:n.1225+500G>A
ENST00000683099.1:n.2638+1G>A
ENST00000683170.1:n.1913+1G>A
ENST00000683212.1:c.1225+500G>A	ENSP00000507839.1:n.1225+500G>A
ENST00000683248.1:n.2146+1G>A
ENST00000683343.1:n.2251+500G>A
ENST00000683347.1:n.1604+1G>A
ENST00000683384.1:c.1418+1G>A	ENSP00000508330.1:n.1418+1G>A
ENST00000683396.1:n.2965+1G>A
ENST00000683410.1:n.1819+1G>A
ENST00000683443.1:n.1031+1G>A
ENST00000683485.1:n.2756+1G>A
ENST00000683504.1:n.5779+1G>A
ENST00000683533.1:c.*821+1G>A	ENSP00000508296.1:n.*821+1G>A
ENST00000683609.1:n.2257+500G>A
ENST00000683644.1:c.*446+1G>A	ENSP00000507914.1:n.*446+1G>A
ENST00000683660.1:n.1610+1G>A
ENST00000683669.1:n.1280+1G>A
ENST00000683690.1:c.*1640+1G>A	ENSP00000508152.1:n.*1640+1G>A
ENST00000683719.1:n.1380+1G>A
ENST00000683757.1:n.1386+1G>A
ENST00000683858.1:c.1349+1G>A	ENSP00000507657.1:n.1349+1G>A
ENST00000683875.1:c.1169+1G>A	ENSP00000507602.1:n.1169+1G>A
ENST00000683904.1:n.2757G>A
ENST00000683910.1:n.1938G>A
ENST00000683959.1:c.*446+1G>A	ENSP00000508309.1:n.*446+1G>A
ENST00000683976.1:c.*946+1G>A	ENSP00000507183.1:n.*946+1G>A
ENST00000683978.1:n.1540+1G>A
ENST00000683992.1:c.*1037+1G>A	ENSP00000508144.1:n.*1037+1G>A
ENST00000684020.1:n.1819+1G>A
ENST00000684044.1:n.2257+500G>A
ENST00000684057.1:n.2187+1G>A
ENST00000684076.1:n.1568+1G>A
ENST00000684128.1:n.2965+1G>A
ENST00000684194.1:n.1819+1G>A
ENST00000684205.1:n.3076+1G>A
ENST00000684246.1:c.*1037+1G>A	ENSP00000508273.1:n.*1037+1G>A
ENST00000684388.1:c.317+1G>A	ENSP00000507647.1:n.317+1G>A
ENST00000684402.1:n.2638+1G>A
ENST00000684446.1:n.2756+1G>A
ENST00000684531.1:n.1630+1G>A
ENST00000684635.1:c.1292+1G>A	ENSP00000507335.1:n.1292+1G>A
ENST00000684640.1:c.1231+500G>A	ENSP00000507292.1:n.1231+500G>A
ENST00000684673.1:c.1397+1G>A	ENSP00000507746.1:n.1397+1G>A
ENST00000684684.1:c.*649+500G>A	ENSP00000507026.1:n.*649+500G>A
XM_005256080.1:c.1397+1G>A	XP_005256137.1:n.1397+1G>A
XM_005256080.2:c.1397+1G>A	XP_005256137.1:n.1397+1G>A
XM_005256081.1:c.1397+1G>A	XP_005256138.1:n.1397+1G>A
XM_005256082.1:c.1397+1G>A	XP_005256139.1:n.1397+1G>A
XR_001751958.1:n.1630+1G>A
XR_001751959.2:n.1630+1G>A
XR_001751960.1:n.1458+500G>A
XR_001751961.1:n.1458+500G>A
XR_933378.1:n.1458+500G>A
XR_933379.1:n.1458+500G>A
XR_933380.1:n.1458+500G>A
XR_933380.2:n.1458+500G>A