Canonical Allele Identifier: CA8065565
Community Standard Title: NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys)
Gene: BBS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56485676T>C , CM000678.2:g.56485676T>C GRCh38
NC_000016.9:g.56519588T>C , CM000678.1:g.56519588T>C GRCh37
NC_000016.8:g.55077089T>C NCBI36
NG_009312.1:g.39608A>G
NG_009312.2:g.39349A>G

Transcript Alleles

HGVS Amino-acid Change
NM_031885.5:c.1973A>G MANE Select NP_114091.4:p.Tyr658Cys
ENST00000245157.11:c.1973A>G MANE Select ENSP00000245157.5:p.Tyr658Cys
NM_001377456.1:c.1973A>G NP_001364385.1:p.Tyr658Cys
NM_031885.3:c.1973A>G NP_114091.3:p.Tyr658Cys
NM_031885.4:c.1973A>G NP_114091.3:p.Tyr658Cys
NR_165293.1:n.2263A>G
NR_165294.1:n.2260A>G
NR_165295.1:n.2091A>G
NR_165296.1:n.1963A>G
NR_165297.1:n.1963A>G
ENST00000245157.9:c.1973A>G ENSP00000245157.5:p.Tyr658Cys
ENST00000561877.2:c.1960A>G ENSP00000454986.2:n.1960A>G
ENST00000562813.1:n.3460A>G
ENST00000562813.2:n.3460A>G
ENST00000564123.6:c.63A>G
ENST00000564123.7:n.818A>G
ENST00000564459.5:c.236A>G ENSP00000463731.1:p.Tyr79Cys
ENST00000564459.6:n.700A>G
ENST00000565781.5:n.5504A>G
ENST00000565781.6:n.5504A>G
ENST00000565859.2:n.3047A>G
ENST00000566210.2:n.2402A>G
ENST00000566410.2:n.5487A>G
ENST00000566452.2:n.3096A>G
ENST00000568104.5:c.1835A>G ENSP00000456289.1:p.Tyr612Cys
ENST00000568104.6:c.1835A>G ENSP00000456289.1:p.Tyr612Cys
ENST00000569192.5:n.647A>G
ENST00000569192.6:n.1078A>G
ENST00000618027.2:n.752A>G
ENST00000682000.1:n.1531A>G
ENST00000682001.1:n.3002A>G
ENST00000682038.1:c.*1362A>G ENSP00000508404.1:n.*1362A>G
ENST00000682047.1:c.1973A>G ENSP00000507699.1:p.Tyr658Cys
ENST00000682088.1:c.*4914A>G ENSP00000508064.1:n.*4914A>G
ENST00000682096.1:n.4423A>G
ENST00000682113.1:n.4190A>G
ENST00000682146.1:n.3130A>G
ENST00000682187.1:c.*1397A>G ENSP00000507203.1:n.*1397A>G
ENST00000682188.1:c.2018A>G ENSP00000507655.1:p.Tyr673Cys
ENST00000682201.1:n.1964A>G
ENST00000682205.1:c.1973A>G ENSP00000508377.1:p.Tyr658Cys
ENST00000682348.1:c.*1022A>G ENSP00000506965.1:n.*1022A>G
ENST00000682360.1:c.1376A>G ENSP00000508007.1:p.Tyr459Cys
ENST00000682370.1:n.3339A>G
ENST00000682420.1:n.2520A>G
ENST00000682429.1:c.*642A>G ENSP00000506827.1:n.*642A>G
ENST00000682449.1:c.*724A>G ENSP00000507836.1:n.*724A>G
ENST00000682470.1:c.1973A>G ENSP00000507654.1:p.Tyr658Cys
ENST00000682473.1:n.1938A>G
ENST00000682482.1:c.1847A>G ENSP00000507903.1:p.Tyr616Cys
ENST00000682492.1:n.2061A>G
ENST00000682493.1:c.*568A>G ENSP00000506778.1:n.*568A>G
ENST00000682543.1:c.*1397A>G ENSP00000507592.1:n.*1397A>G
ENST00000682597.1:n.4160A>G
ENST00000682658.1:c.*1005A>G ENSP00000507773.1:n.*1005A>G
ENST00000682705.1:n.3042A>G
ENST00000682723.1:c.*52A>G ENSP00000507115.1:n.*52A>G
ENST00000682735.1:c.*3641A>G ENSP00000507007.1:n.*3641A>G
ENST00000682737.1:c.1376A>G ENSP00000506876.1:p.Tyr459Cys
ENST00000682757.1:n.3666A>G
ENST00000682855.1:c.1973A>G ENSP00000507027.1:p.Tyr658Cys
ENST00000682875.1:c.*52A>G ENSP00000507771.1:n.*52A>G
ENST00000682930.1:c.1898A>G ENSP00000507981.1:p.Tyr633Cys
ENST00000682948.1:n.3005A>G
ENST00000682960.1:n.4214A>G
ENST00000683008.1:n.5428A>G
ENST00000683020.1:c.*514A>G ENSP00000507944.1:n.*514A>G
ENST00000683099.1:n.4002A>G
ENST00000683170.1:n.3698A>G
ENST00000683212.1:c.*514A>G ENSP00000507839.1:n.*514A>G
ENST00000683248.1:n.3931A>G
ENST00000683343.1:n.2827A>G
ENST00000683347.1:n.2180A>G
ENST00000683384.1:c.1994A>G ENSP00000508330.1:n.1994A>G
ENST00000683396.1:n.4750A>G
ENST00000683410.1:n.2454A>G
ENST00000683443.1:n.1607A>G
ENST00000683485.1:n.4541A>G
ENST00000683504.1:n.7564A>G
ENST00000683533.1:c.*1397A>G ENSP00000508296.1:n.*1397A>G
ENST00000683609.1:n.4042A>G
ENST00000683644.1:c.*1147A>G ENSP00000507914.1:n.*1147A>G
ENST00000683690.1:c.*3425A>G ENSP00000508152.1:n.*3425A>G
ENST00000683757.1:n.1962A>G
ENST00000683858.1:c.1925A>G ENSP00000507657.1:p.Tyr642Cys
ENST00000683875.1:c.1745A>G ENSP00000507602.1:p.Tyr582Cys
ENST00000683904.1:n.4278A>G
ENST00000683910.1:n.4668A>G
ENST00000683959.1:c.*1022A>G ENSP00000508309.1:n.*1022A>G
ENST00000683976.1:c.*1522A>G ENSP00000507183.1:n.*1522A>G
ENST00000683978.1:n.2116A>G
ENST00000683992.1:c.*1613A>G ENSP00000508144.1:n.*1613A>G
ENST00000684020.1:n.2395A>G
ENST00000684044.1:n.2961A>G
ENST00000684057.1:n.2891A>G
ENST00000684076.1:n.3353A>G
ENST00000684128.1:n.3541A>G
ENST00000684194.1:n.3604A>G
ENST00000684205.1:n.3652A>G
ENST00000684246.1:c.*1613A>G ENSP00000508273.1:n.*1613A>G
ENST00000684388.1:c.893A>G ENSP00000507647.1:p.Tyr298Cys
ENST00000684402.1:n.3214A>G
ENST00000684446.1:n.3457A>G
ENST00000684531.1:n.3415A>G
ENST00000684635.1:c.1868A>G ENSP00000507335.1:p.Tyr623Cys
ENST00000684640.1:c.1935A>G ENSP00000507292.1:n.1935A>G
ENST00000684673.1:c.*568A>G ENSP00000507746.1:n.*568A>G
ENST00000684684.1:c.*1225A>G ENSP00000507026.1:n.*1225A>G
XM_005256080.1:c.1973A>G XP_005256137.1:p.Tyr658Cys
XM_005256080.2:c.1973A>G XP_005256137.1:p.Tyr658Cys
XR_001751958.1:n.2334A>G
XR_001751959.2:n.2331A>G
XR_001751960.1:n.2034A>G
XR_001751961.1:n.2034A>G
XR_933380.2:n.2162A>G