Canonical Allele Identifier: CA395976027

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56497835G>A , CM000678.2:g.56497835G>A	GRCh38
NC_000016.9:g.56531747G>A , CM000678.1:g.56531747G>A	GRCh37
NC_000016.8:g.55089248G>A	NCBI36
NG_009312.1:g.27449C>T
NG_009312.2:g.27190C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031885.5:c.1705C>T MANE Select	NP_114091.4:p.Gln569Ter
ENST00000245157.11:c.1705C>T MANE Select	ENSP00000245157.5:p.Gln569Ter
NM_001377456.1:c.1705C>T	NP_001364385.1:p.Gln569Ter
NM_031885.3:c.1705C>T	NP_114091.3:p.Gln569Ter
NM_031885.4:c.1705C>T	NP_114091.3:p.Gln569Ter
NR_165293.1:n.1995C>T
NR_165294.1:n.1992C>T
NR_165295.1:n.1823C>T
NR_165296.1:n.1695C>T
NR_165297.1:n.1695C>T
ENST00000245157.9:c.1705C>T	ENSP00000245157.5:p.Gln569Ter
ENST00000561877.1:c.529C>T
ENST00000561877.2:c.1692C>T	ENSP00000454986.2:n.1692C>T
ENST00000562813.1:n.2529C>T
ENST00000562813.2:n.2529C>T
ENST00000564459.6:n.432C>T
ENST00000565781.5:n.5236C>T
ENST00000565781.6:n.5236C>T
ENST00000565859.2:n.2779C>T
ENST00000566210.2:n.2134C>T
ENST00000566410.2:n.5219C>T
ENST00000566452.2:n.2165C>T
ENST00000566495.1:n.674C>T
ENST00000566495.2:n.674C>T
ENST00000568104.5:c.1659+602C>T	ENSP00000456289.1:n.1659+602C>T
ENST00000568104.6:c.1659+602C>T	ENSP00000456289.1:n.1659+602C>T
ENST00000569192.5:n.379C>T
ENST00000569192.6:n.810C>T
ENST00000618027.2:n.484C>T
ENST00000682000.1:n.1263C>T
ENST00000682001.1:n.2734C>T
ENST00000682005.1:n.1696C>T
ENST00000682038.1:c.*1094C>T	ENSP00000508404.1:n.*1094C>T
ENST00000682047.1:c.1705C>T	ENSP00000507699.1:p.Gln569Ter
ENST00000682088.1:c.*4646C>T	ENSP00000508064.1:n.*4646C>T
ENST00000682096.1:n.4155C>T
ENST00000682113.1:n.3922C>T
ENST00000682146.1:n.2862C>T
ENST00000682187.1:c.*1129C>T	ENSP00000507203.1:n.*1129C>T
ENST00000682188.1:c.1705C>T	ENSP00000507655.1:p.Gln569Ter
ENST00000682201.1:n.1696C>T
ENST00000682205.1:c.1705C>T	ENSP00000508377.1:p.Gln569Ter
ENST00000682348.1:c.*754C>T	ENSP00000506965.1:n.*754C>T
ENST00000682360.1:c.1108C>T	ENSP00000508007.1:p.Gln370Ter
ENST00000682370.1:n.3071C>T
ENST00000682420.1:n.2252C>T
ENST00000682429.1:c.*374C>T	ENSP00000506827.1:n.*374C>T
ENST00000682449.1:c.*456C>T	ENSP00000507836.1:n.*456C>T
ENST00000682470.1:c.1705C>T	ENSP00000507654.1:p.Gln569Ter
ENST00000682473.1:n.1670C>T
ENST00000682482.1:c.1579C>T	ENSP00000507903.1:p.Gln527Ter
ENST00000682492.1:n.1793C>T
ENST00000682493.1:c.*300C>T	ENSP00000506778.1:n.*300C>T
ENST00000682543.1:c.*1129C>T	ENSP00000507592.1:n.*1129C>T
ENST00000682597.1:n.3892C>T
ENST00000682623.1:n.306C>T
ENST00000682658.1:c.*737C>T	ENSP00000507773.1:n.*737C>T
ENST00000682705.1:n.2774C>T
ENST00000682723.1:c.1108C>T	ENSP00000507115.1:p.Gln370Ter
ENST00000682735.1:c.*3373C>T	ENSP00000507007.1:n.*3373C>T
ENST00000682737.1:c.1108C>T	ENSP00000506876.1:p.Gln370Ter
ENST00000682757.1:n.3398C>T
ENST00000682855.1:c.1705C>T	ENSP00000507027.1:p.Gln569Ter
ENST00000682875.1:c.1705C>T	ENSP00000507771.1:p.Gln569Ter
ENST00000682930.1:c.1630C>T	ENSP00000507981.1:p.Gln544Ter
ENST00000682948.1:n.2737C>T
ENST00000682960.1:n.3946C>T
ENST00000683008.1:n.5101C>T
ENST00000683020.1:c.*246C>T	ENSP00000507944.1:n.*246C>T
ENST00000683099.1:n.3071C>T
ENST00000683170.1:n.3430C>T
ENST00000683212.1:c.*246C>T	ENSP00000507839.1:n.*246C>T
ENST00000683248.1:n.3663C>T
ENST00000683343.1:n.2559C>T
ENST00000683347.1:n.1912C>T
ENST00000683384.1:c.1726C>T	ENSP00000508330.1:n.1726C>T
ENST00000683396.1:n.4482C>T
ENST00000683410.1:n.2127C>T
ENST00000683443.1:n.1339C>T
ENST00000683485.1:n.4273C>T
ENST00000683504.1:n.7296C>T
ENST00000683533.1:c.*1129C>T	ENSP00000508296.1:n.*1129C>T
ENST00000683609.1:n.3774C>T
ENST00000683644.1:c.*879C>T	ENSP00000507914.1:n.*879C>T
ENST00000683660.1:n.1918C>T
ENST00000683669.1:n.1588C>T
ENST00000683690.1:c.*3157C>T	ENSP00000508152.1:n.*3157C>T
ENST00000683719.1:n.1688C>T
ENST00000683757.1:n.1694C>T
ENST00000683858.1:c.1657C>T	ENSP00000507657.1:p.Gln553Ter
ENST00000683875.1:c.1477C>T	ENSP00000507602.1:p.Gln493Ter
ENST00000683904.1:n.4010C>T
ENST00000683910.1:n.4400C>T
ENST00000683959.1:c.*754C>T	ENSP00000508309.1:n.*754C>T
ENST00000683976.1:c.*1254C>T	ENSP00000507183.1:n.*1254C>T
ENST00000683978.1:n.1848C>T
ENST00000683992.1:c.*1345C>T	ENSP00000508144.1:n.*1345C>T
ENST00000684020.1:n.2127C>T
ENST00000684044.1:n.2693C>T
ENST00000684057.1:n.2623C>T
ENST00000684076.1:n.3085C>T
ENST00000684128.1:n.3273C>T
ENST00000684194.1:n.3336C>T
ENST00000684205.1:n.3384C>T
ENST00000684246.1:c.*1345C>T	ENSP00000508273.1:n.*1345C>T
ENST00000684388.1:c.625C>T	ENSP00000507647.1:p.Gln209Ter
ENST00000684402.1:n.2946C>T
ENST00000684446.1:n.3189C>T
ENST00000684531.1:n.3147C>T
ENST00000684635.1:c.1600C>T	ENSP00000507335.1:p.Gln534Ter
ENST00000684640.1:c.1667C>T	ENSP00000507292.1:n.1667C>T
ENST00000684673.1:c.*300C>T	ENSP00000507746.1:n.*300C>T
ENST00000684684.1:c.*957C>T	ENSP00000507026.1:n.*957C>T
XM_005256080.1:c.1705C>T	XP_005256137.1:p.Gln569Ter
XM_005256080.2:c.1705C>T	XP_005256137.1:p.Gln569Ter
XR_001751958.1:n.2066C>T
XR_001751959.2:n.2063C>T
XR_001751960.1:n.1766C>T
XR_001751961.1:n.1766C>T
XR_933378.1:n.1766C>T
XR_933380.2:n.1894C>T