Canonical Allele Identifier: CA8065629

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56497760G>A , CM000678.2:g.56497760G>A	GRCh38
NC_000016.9:g.56531672G>A , CM000678.1:g.56531672G>A	GRCh37
NC_000016.8:g.55089173G>A	NCBI36
NG_009312.1:g.27524C>T
NG_009312.2:g.27265C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031885.5:c.1780C>T MANE Select	NP_114091.4:p.Arg594Ter
ENST00000245157.11:c.1780C>T MANE Select	ENSP00000245157.5:p.Arg594Ter
NM_001377456.1:c.1780C>T	NP_001364385.1:p.Arg594Ter
NM_031885.3:c.1780C>T	NP_114091.3:p.Arg594Ter
NM_031885.4:c.1780C>T	NP_114091.3:p.Arg594Ter
NR_165293.1:n.2070C>T
NR_165294.1:n.2067C>T
NR_165295.1:n.1898C>T
NR_165296.1:n.1770C>T
NR_165297.1:n.1770C>T
ENST00000245157.9:c.1780C>T	ENSP00000245157.5:p.Arg594Ter
ENST00000561877.2:c.1767C>T	ENSP00000454986.2:n.1767C>T
ENST00000562813.1:n.2604C>T
ENST00000562813.2:n.2604C>T
ENST00000564459.5:c.43C>T	ENSP00000463731.1:p.Arg15Ter
ENST00000564459.6:n.507C>T
ENST00000565781.5:n.5311C>T
ENST00000565781.6:n.5311C>T
ENST00000565859.2:n.2854C>T
ENST00000566210.2:n.2209C>T
ENST00000566410.2:n.5294C>T
ENST00000566452.2:n.2240C>T
ENST00000566495.1:n.749C>T
ENST00000566495.2:n.749C>T
ENST00000568104.5:c.1659+677C>T	ENSP00000456289.1:n.1659+677C>T
ENST00000568104.6:c.1659+677C>T	ENSP00000456289.1:n.1659+677C>T
ENST00000569192.5:n.454C>T
ENST00000569192.6:n.885C>T
ENST00000618027.2:n.559C>T
ENST00000682000.1:n.1338C>T
ENST00000682001.1:n.2809C>T
ENST00000682005.1:n.1771C>T
ENST00000682038.1:c.*1169C>T	ENSP00000508404.1:n.*1169C>T
ENST00000682047.1:c.1780C>T	ENSP00000507699.1:p.Arg594Ter
ENST00000682088.1:c.*4721C>T	ENSP00000508064.1:n.*4721C>T
ENST00000682096.1:n.4230C>T
ENST00000682113.1:n.3997C>T
ENST00000682146.1:n.2937C>T
ENST00000682187.1:c.*1204C>T	ENSP00000507203.1:n.*1204C>T
ENST00000682188.1:c.1780C>T	ENSP00000507655.1:p.Arg594Ter
ENST00000682201.1:n.1771C>T
ENST00000682205.1:c.1780C>T	ENSP00000508377.1:p.Arg594Ter
ENST00000682348.1:c.*829C>T	ENSP00000506965.1:n.*829C>T
ENST00000682360.1:c.1183C>T	ENSP00000508007.1:p.Arg395Ter
ENST00000682370.1:n.3146C>T
ENST00000682420.1:n.2327C>T
ENST00000682429.1:c.*449C>T	ENSP00000506827.1:n.*449C>T
ENST00000682449.1:c.*531C>T	ENSP00000507836.1:n.*531C>T
ENST00000682470.1:c.1780C>T	ENSP00000507654.1:p.Arg594Ter
ENST00000682473.1:n.1745C>T
ENST00000682482.1:c.1654C>T	ENSP00000507903.1:p.Arg552Ter
ENST00000682492.1:n.1868C>T
ENST00000682493.1:c.*375C>T	ENSP00000506778.1:n.*375C>T
ENST00000682543.1:c.*1204C>T	ENSP00000507592.1:n.*1204C>T
ENST00000682597.1:n.3967C>T
ENST00000682623.1:n.381C>T
ENST00000682658.1:c.*812C>T	ENSP00000507773.1:n.*812C>T
ENST00000682705.1:n.2849C>T
ENST00000682723.1:c.1183C>T	ENSP00000507115.1:p.Arg395Ter
ENST00000682735.1:c.*3448C>T	ENSP00000507007.1:n.*3448C>T
ENST00000682737.1:c.1183C>T	ENSP00000506876.1:p.Arg395Ter
ENST00000682757.1:n.3473C>T
ENST00000682855.1:c.1780C>T	ENSP00000507027.1:p.Arg594Ter
ENST00000682875.1:c.1780C>T	ENSP00000507771.1:p.Arg594Ter
ENST00000682930.1:c.1705C>T	ENSP00000507981.1:p.Arg569Ter
ENST00000682948.1:n.2812C>T
ENST00000682960.1:n.4021C>T
ENST00000683008.1:n.5176C>T
ENST00000683020.1:c.*321C>T	ENSP00000507944.1:n.*321C>T
ENST00000683099.1:n.3146C>T
ENST00000683170.1:n.3505C>T
ENST00000683212.1:c.*321C>T	ENSP00000507839.1:n.*321C>T
ENST00000683248.1:n.3738C>T
ENST00000683343.1:n.2634C>T
ENST00000683347.1:n.1987C>T
ENST00000683384.1:c.1801C>T	ENSP00000508330.1:n.1801C>T
ENST00000683396.1:n.4557C>T
ENST00000683410.1:n.2202C>T
ENST00000683443.1:n.1414C>T
ENST00000683485.1:n.4348C>T
ENST00000683504.1:n.7371C>T
ENST00000683533.1:c.*1204C>T	ENSP00000508296.1:n.*1204C>T
ENST00000683609.1:n.3849C>T
ENST00000683644.1:c.*954C>T	ENSP00000507914.1:n.*954C>T
ENST00000683660.1:n.1993C>T
ENST00000683669.1:n.1663C>T
ENST00000683690.1:c.*3232C>T	ENSP00000508152.1:n.*3232C>T
ENST00000683719.1:n.1763C>T
ENST00000683757.1:n.1769C>T
ENST00000683858.1:c.1732C>T	ENSP00000507657.1:p.Arg578Ter
ENST00000683875.1:c.1552C>T	ENSP00000507602.1:p.Arg518Ter
ENST00000683904.1:n.4085C>T
ENST00000683910.1:n.4475C>T
ENST00000683959.1:c.*829C>T	ENSP00000508309.1:n.*829C>T
ENST00000683976.1:c.*1329C>T	ENSP00000507183.1:n.*1329C>T
ENST00000683978.1:n.1923C>T
ENST00000683992.1:c.*1420C>T	ENSP00000508144.1:n.*1420C>T
ENST00000684020.1:n.2202C>T
ENST00000684044.1:n.2768C>T
ENST00000684057.1:n.2698C>T
ENST00000684076.1:n.3160C>T
ENST00000684128.1:n.3348C>T
ENST00000684194.1:n.3411C>T
ENST00000684205.1:n.3459C>T
ENST00000684246.1:c.*1420C>T	ENSP00000508273.1:n.*1420C>T
ENST00000684388.1:c.700C>T	ENSP00000507647.1:p.Arg234Ter
ENST00000684402.1:n.3021C>T
ENST00000684446.1:n.3264C>T
ENST00000684531.1:n.3222C>T
ENST00000684635.1:c.1675C>T	ENSP00000507335.1:p.Arg559Ter
ENST00000684640.1:c.1742C>T	ENSP00000507292.1:n.1742C>T
ENST00000684673.1:c.*375C>T	ENSP00000507746.1:n.*375C>T
ENST00000684684.1:c.*1032C>T	ENSP00000507026.1:n.*1032C>T
XM_005256080.1:c.1780C>T	XP_005256137.1:p.Arg594Ter
XM_005256080.2:c.1780C>T	XP_005256137.1:p.Arg594Ter
XR_001751958.1:n.2141C>T
XR_001751959.2:n.2138C>T
XR_001751960.1:n.1841C>T
XR_001751961.1:n.1841C>T
XR_933378.1:n.1841C>T
XR_933380.2:n.1969C>T