Canonical Allele Identifier: CA8065680

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56498583C>A , CM000678.2:g.56498583C>A	GRCh38
NC_000016.9:g.56532495C>A , CM000678.1:g.56532495C>A	GRCh37
NC_000016.8:g.55089996C>A	NCBI36
NG_009312.1:g.26701G>T
NG_009312.2:g.26442G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031885.5:c.1528-15G>T MANE Select	NP_114091.4:n.1528-15G>T
ENST00000245157.11:c.1528-15G>T MANE Select	ENSP00000245157.5:n.1528-15G>T
NM_001377456.1:c.1528-15G>T	NP_001364385.1:n.1528-15G>T
NM_031885.3:c.1528-15G>T	NP_114091.3:n.1528-15G>T
NM_031885.4:c.1528-15G>T	NP_114091.3:n.1528-15G>T
NR_165293.1:n.1803G>T
NR_165294.1:n.1800G>T
NR_165295.1:n.1631G>T
NR_165296.1:n.1518-15G>T
NR_165297.1:n.1518-15G>T
ENST00000245157.9:c.1528-15G>T	ENSP00000245157.5:n.1528-15G>T
ENST00000561877.1:c.337G>T
ENST00000561877.2:c.1500G>T	ENSP00000454986.2:n.1500G>T
ENST00000562813.1:n.2337G>T
ENST00000562813.2:n.2337G>T
ENST00000564459.6:n.255-15G>T
ENST00000565781.5:n.5044G>T
ENST00000565781.6:n.5044G>T
ENST00000565859.2:n.2602-15G>T
ENST00000566210.2:n.1957-15G>T
ENST00000566410.1:n.257G>T
ENST00000566410.2:n.5027G>T
ENST00000566452.2:n.1417G>T
ENST00000566495.1:n.497-15G>T
ENST00000566495.2:n.497-15G>T
ENST00000568104.5:c.1528-15G>T	ENSP00000456289.1:n.1528-15G>T
ENST00000568104.6:c.1528-15G>T	ENSP00000456289.1:n.1528-15G>T
ENST00000569192.5:n.202-15G>T
ENST00000569192.6:n.618G>T
ENST00000618027.2:n.307-15G>T
ENST00000682000.1:n.1086-15G>T
ENST00000682001.1:n.2557-15G>T
ENST00000682005.1:n.1519-15G>T
ENST00000682038.1:c.*902G>T	ENSP00000508404.1:n.*902G>T
ENST00000682047.1:c.1528-15G>T	ENSP00000507699.1:n.1528-15G>T
ENST00000682088.1:c.*4454G>T	ENSP00000508064.1:n.*4454G>T
ENST00000682096.1:n.3963G>T
ENST00000682113.1:n.3730G>T
ENST00000682146.1:n.2670G>T
ENST00000682187.1:c.*952-15G>T	ENSP00000507203.1:n.*952-15G>T
ENST00000682188.1:c.1528-15G>T	ENSP00000507655.1:n.1528-15G>T
ENST00000682201.1:n.1519-15G>T
ENST00000682205.1:c.1528-15G>T	ENSP00000508377.1:n.1528-15G>T
ENST00000682348.1:c.*577-15G>T	ENSP00000506965.1:n.*577-15G>T
ENST00000682360.1:c.931-15G>T	ENSP00000508007.1:n.931-15G>T
ENST00000682370.1:n.2879G>T
ENST00000682420.1:n.2060G>T
ENST00000682429.1:c.*182G>T	ENSP00000506827.1:n.*182G>T
ENST00000682449.1:c.*279-15G>T	ENSP00000507836.1:n.*279-15G>T
ENST00000682470.1:c.1528-15G>T	ENSP00000507654.1:n.1528-15G>T
ENST00000682473.1:n.1493-15G>T
ENST00000682482.1:c.1402-15G>T	ENSP00000507903.1:n.1402-15G>T
ENST00000682492.1:n.1616-15G>T
ENST00000682493.1:c.*108G>T	ENSP00000506778.1:n.*108G>T
ENST00000682543.1:c.*952-15G>T	ENSP00000507592.1:n.*952-15G>T
ENST00000682597.1:n.3715-15G>T
ENST00000682623.1:n.114G>T
ENST00000682658.1:c.*560-15G>T	ENSP00000507773.1:n.*560-15G>T
ENST00000682705.1:n.2597-15G>T
ENST00000682723.1:c.931-15G>T	ENSP00000507115.1:n.931-15G>T
ENST00000682735.1:c.*3181G>T	ENSP00000507007.1:n.*3181G>T
ENST00000682737.1:c.931-15G>T	ENSP00000506876.1:n.931-15G>T
ENST00000682757.1:n.3206G>T
ENST00000682855.1:c.1528-15G>T	ENSP00000507027.1:n.1528-15G>T
ENST00000682857.1:n.1854G>T
ENST00000682875.1:c.1528-15G>T	ENSP00000507771.1:n.1528-15G>T
ENST00000682930.1:c.1453-15G>T	ENSP00000507981.1:n.1453-15G>T
ENST00000682948.1:n.2560-15G>T
ENST00000682960.1:n.3754G>T
ENST00000683008.1:n.4909G>T
ENST00000683020.1:c.*69-15G>T	ENSP00000507944.1:n.*69-15G>T
ENST00000683099.1:n.2879G>T
ENST00000683170.1:n.3238G>T
ENST00000683212.1:c.*69-15G>T	ENSP00000507839.1:n.*69-15G>T
ENST00000683248.1:n.3471G>T
ENST00000683343.1:n.2382-15G>T
ENST00000683347.1:n.1735-15G>T
ENST00000683384.1:c.1549-15G>T	ENSP00000508330.1:n.1549-15G>T
ENST00000683396.1:n.4290G>T
ENST00000683410.1:n.1950-15G>T
ENST00000683443.1:n.1162-15G>T
ENST00000683485.1:n.4081G>T
ENST00000683504.1:n.7104G>T
ENST00000683533.1:c.*952-15G>T	ENSP00000508296.1:n.*952-15G>T
ENST00000683609.1:n.3582G>T
ENST00000683644.1:c.*687G>T	ENSP00000507914.1:n.*687G>T
ENST00000683660.1:n.1741-15G>T
ENST00000683669.1:n.1411-15G>T
ENST00000683690.1:c.*2965G>T	ENSP00000508152.1:n.*2965G>T
ENST00000683719.1:n.1511-15G>T
ENST00000683757.1:n.1517-15G>T
ENST00000683858.1:c.1480-15G>T	ENSP00000507657.1:n.1480-15G>T
ENST00000683875.1:c.1300-15G>T	ENSP00000507602.1:n.1300-15G>T
ENST00000683904.1:n.3833-15G>T
ENST00000683910.1:n.4208G>T
ENST00000683959.1:c.*577-15G>T	ENSP00000508309.1:n.*577-15G>T
ENST00000683976.1:c.*1077-15G>T	ENSP00000507183.1:n.*1077-15G>T
ENST00000683978.1:n.1671-15G>T
ENST00000683992.1:c.*1168-15G>T	ENSP00000508144.1:n.*1168-15G>T
ENST00000684020.1:n.1950-15G>T
ENST00000684044.1:n.2501G>T
ENST00000684057.1:n.2431G>T
ENST00000684076.1:n.2893G>T
ENST00000684128.1:n.3096-15G>T
ENST00000684194.1:n.3144G>T
ENST00000684205.1:n.3207-15G>T
ENST00000684246.1:c.*1168-15G>T	ENSP00000508273.1:n.*1168-15G>T
ENST00000684388.1:c.448-15G>T	ENSP00000507647.1:n.448-15G>T
ENST00000684402.1:n.2769-15G>T
ENST00000684446.1:n.2997G>T
ENST00000684531.1:n.2955G>T
ENST00000684635.1:c.1423-15G>T	ENSP00000507335.1:n.1423-15G>T
ENST00000684640.1:c.1475G>T	ENSP00000507292.1:n.1475G>T
ENST00000684673.1:c.*108G>T	ENSP00000507746.1:n.*108G>T
ENST00000684684.1:c.*780-15G>T	ENSP00000507026.1:n.*780-15G>T
XM_005256080.1:c.1528-15G>T	XP_005256137.1:n.1528-15G>T
XM_005256080.2:c.1528-15G>T	XP_005256137.1:n.1528-15G>T
XM_005256081.1:c.*108G>T	XP_005256138.1:n.*108G>T
XM_005256082.1:c.*108G>T	XP_005256139.1:n.*108G>T
XR_001751958.1:n.1874G>T
XR_001751959.2:n.1871G>T
XR_001751960.1:n.1589-15G>T
XR_001751961.1:n.1589-15G>T
XR_933378.1:n.1589-15G>T
XR_933379.1:n.1699G>T
XR_933380.1:n.1702G>T
XR_933380.2:n.1702G>T