Canonical Allele Identifier: CA281469231
Gene: BBS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56485583G>C , CM000678.2:g.56485583G>C GRCh38
NC_000016.9:g.56519495G>C , CM000678.1:g.56519495G>C GRCh37
NC_000016.8:g.55076996G>C NCBI36
NG_009312.1:g.39701C>G
NG_009312.2:g.39442C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561877.2:c.2046+7C>G ENSP00000454986.2:n.2046+7C>G
ENST00000562813.2:n.3546+7C>G
ENST00000564123.7:n.904+7C>G
ENST00000564459.6:n.786+7C>G
ENST00000565781.6:n.5590+7C>G
ENST00000565859.2:n.3133+7C>G
ENST00000566210.2:n.2488+7C>G
ENST00000566410.2:n.5573+7C>G
ENST00000566452.2:n.3182+7C>G
ENST00000568104.6:c.1921+7C>G ENSP00000456289.1:n.1921+7C>G
ENST00000569192.6:n.1164+7C>G
ENST00000618027.2:n.838+7C>G
ENST00000682000.1:n.1617+7C>G
ENST00000682001.1:n.3088+7C>G
ENST00000682038.1:c.*1448+7C>G ENSP00000508404.1:n.*1448+7C>G
ENST00000682047.1:c.2059+7C>G ENSP00000507699.1:n.2059+7C>G
ENST00000682088.1:c.*5000+7C>G ENSP00000508064.1:n.*5000+7C>G
ENST00000682096.1:n.4509+7C>G
ENST00000682113.1:n.4276+7C>G
ENST00000682146.1:n.3216+7C>G
ENST00000682187.1:c.*1483+7C>G ENSP00000507203.1:n.*1483+7C>G
ENST00000682188.1:c.2104+7C>G ENSP00000507655.1:n.2104+7C>G
ENST00000682201.1:n.2050+7C>G
ENST00000682205.1:c.2059+7C>G ENSP00000508377.1:n.2059+7C>G
ENST00000682348.1:c.*1108+7C>G ENSP00000506965.1:n.*1108+7C>G
ENST00000682360.1:c.1462+7C>G ENSP00000508007.1:n.1462+7C>G
ENST00000682370.1:n.3425+7C>G
ENST00000682420.1:n.2606+7C>G
ENST00000682429.1:c.*728+7C>G ENSP00000506827.1:n.*728+7C>G
ENST00000682449.1:c.*810+7C>G ENSP00000507836.1:n.*810+7C>G
ENST00000682470.1:c.2059+7C>G ENSP00000507654.1:n.2059+7C>G
ENST00000682473.1:n.2024+7C>G
ENST00000682482.1:c.1933+7C>G ENSP00000507903.1:n.1933+7C>G
ENST00000682492.1:n.2147+7C>G
ENST00000682493.1:c.*654+7C>G ENSP00000506778.1:n.*654+7C>G
ENST00000682543.1:c.*1483+7C>G ENSP00000507592.1:n.*1483+7C>G
ENST00000682597.1:n.4246+7C>G
ENST00000682658.1:c.*1091+7C>G ENSP00000507773.1:n.*1091+7C>G
ENST00000682705.1:n.3128+7C>G
ENST00000682723.1:c.*138+7C>G ENSP00000507115.1:n.*138+7C>G
ENST00000682735.1:c.*3727+7C>G ENSP00000507007.1:n.*3727+7C>G
ENST00000682737.1:c.1462+7C>G ENSP00000506876.1:n.1462+7C>G
ENST00000682757.1:n.3752+7C>G
ENST00000682855.1:c.2059+7C>G ENSP00000507027.1:n.2059+7C>G
ENST00000682875.1:c.*138+7C>G ENSP00000507771.1:n.*138+7C>G
ENST00000682930.1:c.1984+7C>G ENSP00000507981.1:n.1984+7C>G
ENST00000682948.1:n.3091+7C>G
ENST00000682960.1:n.4300+7C>G
ENST00000683008.1:n.5514+7C>G
ENST00000683020.1:c.*600+7C>G ENSP00000507944.1:n.*600+7C>G
ENST00000683099.1:n.4088+7C>G
ENST00000683170.1:n.3784+7C>G
ENST00000683212.1:c.*600+7C>G ENSP00000507839.1:n.*600+7C>G
ENST00000683248.1:n.4017+7C>G
ENST00000683343.1:n.2913+7C>G
ENST00000683347.1:n.2266+7C>G
ENST00000683384.1:c.2080+7C>G ENSP00000508330.1:n.2080+7C>G
ENST00000683396.1:n.4836+7C>G
ENST00000683410.1:n.2540+7C>G
ENST00000683443.1:n.1693+7C>G
ENST00000683485.1:n.4627+7C>G
ENST00000683504.1:n.7650+7C>G
ENST00000683533.1:c.*1483+7C>G ENSP00000508296.1:n.*1483+7C>G
ENST00000683609.1:n.4128+7C>G
ENST00000683644.1:c.*1233+7C>G ENSP00000507914.1:n.*1233+7C>G
ENST00000683690.1:c.*3511+7C>G ENSP00000508152.1:n.*3511+7C>G
ENST00000683757.1:n.2048+7C>G
ENST00000683858.1:c.2011+7C>G ENSP00000507657.1:n.2011+7C>G
ENST00000683875.1:c.1831+7C>G ENSP00000507602.1:n.1831+7C>G
ENST00000683904.1:n.4364+7C>G
ENST00000683910.1:n.4754+7C>G
ENST00000683959.1:c.*1108+7C>G ENSP00000508309.1:n.*1108+7C>G
ENST00000683976.1:c.*1608+7C>G ENSP00000507183.1:n.*1608+7C>G
ENST00000683978.1:n.2202+7C>G
ENST00000683992.1:c.*1699+7C>G ENSP00000508144.1:n.*1699+7C>G
ENST00000684020.1:n.2481+7C>G
ENST00000684044.1:n.3047+7C>G
ENST00000684057.1:n.2977+7C>G
ENST00000684076.1:n.3439+7C>G
ENST00000684128.1:n.3627+7C>G
ENST00000684194.1:n.3690+7C>G
ENST00000684205.1:n.3738+7C>G
ENST00000684246.1:c.*1699+7C>G ENSP00000508273.1:n.*1699+7C>G
ENST00000684388.1:c.979+7C>G ENSP00000507647.1:n.979+7C>G
ENST00000684402.1:n.3300+7C>G
ENST00000684446.1:n.3543+7C>G
ENST00000684531.1:n.3501+7C>G
ENST00000684635.1:c.1954+7C>G ENSP00000507335.1:n.1954+7C>G
ENST00000684640.1:c.2021+7C>G ENSP00000507292.1:n.2021+7C>G
ENST00000684673.1:c.*654+7C>G ENSP00000507746.1:n.*654+7C>G
ENST00000684684.1:c.*1311+7C>G ENSP00000507026.1:n.*1311+7C>G
ENST00000245157.11:c.2059+7C>G MANE Select ENSP00000245157.5:n.2059+7C>G
ENST00000245157.9:c.2059+7C>G ENSP00000245157.5:n.2059+7C>G
ENST00000562813.1:n.3546+7C>G
ENST00000564123.6:c.149+7C>G
ENST00000564459.5:c.322+7C>G ENSP00000463731.1:n.322+7C>G
ENST00000565781.5:n.5590+7C>G
ENST00000568104.5:c.1921+7C>G ENSP00000456289.1:n.1921+7C>G
NM_031885.3:c.2059+7C>G NP_114091.3:n.2059+7C>G
XM_005256080.1:c.2059+7C>G XP_005256137.1:n.2059+7C>G
XM_005256080.2:c.2059+7C>G XP_005256137.1:n.2059+7C>G
XR_001751958.1:n.2420+7C>G
XR_001751959.2:n.2417+7C>G
XR_001751960.1:n.2120+7C>G
XR_001751961.1:n.2120+7C>G
XR_933380.2:n.2248+7C>G
NM_031885.4:c.2059+7C>G NP_114091.3:n.2059+7C>G
NM_001377456.1:c.2059+7C>G NP_001364385.1:n.2059+7C>G
NM_031885.5:c.2059+7C>G MANE Select NP_114091.4:n.2059+7C>G
NR_165293.1:n.2349+7C>G
NR_165294.1:n.2346+7C>G
NR_165295.1:n.2177+7C>G
NR_165296.1:n.2049+7C>G
NR_165297.1:n.2049+7C>G