Canonical Allele Identifier: CA8065522
Gene: BBS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56484823T>C , CM000678.2:g.56484823T>C GRCh38
NC_000016.9:g.56518735T>C , CM000678.1:g.56518735T>C GRCh37
NC_000016.8:g.55076236T>C NCBI36
NG_009312.1:g.40461A>G
NG_009312.2:g.40202A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561877.2:c.2091A>G ENSP00000454986.2:n.2091A>G
ENST00000562813.2:n.3591A>G
ENST00000564123.7:n.949A>G
ENST00000564459.6:n.831A>G
ENST00000565781.6:n.5635A>G
ENST00000565859.2:n.3178A>G
ENST00000566210.2:n.2533A>G
ENST00000566410.2:n.5618A>G
ENST00000566452.2:n.3227A>G
ENST00000568104.6:c.1966A>G ENSP00000456289.1:p.Ile656Val
ENST00000569192.6:n.1209A>G
ENST00000618027.2:n.883A>G
ENST00000682000.1:n.1662A>G
ENST00000682001.1:n.3133A>G
ENST00000682038.1:c.*1493A>G ENSP00000508404.1:n.*1493A>G
ENST00000682047.1:c.2104A>G ENSP00000507699.1:p.Ile702Val
ENST00000682088.1:c.*5045A>G ENSP00000508064.1:n.*5045A>G
ENST00000682096.1:n.4554A>G
ENST00000682113.1:n.4321A>G
ENST00000682146.1:n.3261A>G
ENST00000682187.1:c.*1528A>G ENSP00000507203.1:n.*1528A>G
ENST00000682188.1:c.2149A>G ENSP00000507655.1:p.Ile717Val
ENST00000682201.1:n.2095A>G
ENST00000682205.1:c.2104A>G ENSP00000508377.1:p.Ile702Val
ENST00000682348.1:c.*1153A>G ENSP00000506965.1:n.*1153A>G
ENST00000682360.1:c.1507A>G ENSP00000508007.1:p.Ile503Val
ENST00000682370.1:n.3470A>G
ENST00000682420.1:n.2651A>G
ENST00000682429.1:c.*773A>G ENSP00000506827.1:n.*773A>G
ENST00000682449.1:c.*855A>G ENSP00000507836.1:n.*855A>G
ENST00000682470.1:c.2104A>G ENSP00000507654.1:p.Ile702Val
ENST00000682473.1:n.2069A>G
ENST00000682482.1:c.1978A>G ENSP00000507903.1:p.Ile660Val
ENST00000682492.1:n.2192A>G
ENST00000682493.1:c.*699A>G ENSP00000506778.1:n.*699A>G
ENST00000682543.1:c.*1528A>G ENSP00000507592.1:n.*1528A>G
ENST00000682597.1:n.4291A>G
ENST00000682658.1:c.*1136A>G ENSP00000507773.1:n.*1136A>G
ENST00000682705.1:n.3173A>G
ENST00000682723.1:c.*183A>G ENSP00000507115.1:n.*183A>G
ENST00000682735.1:c.*3772A>G ENSP00000507007.1:n.*3772A>G
ENST00000682737.1:c.1507A>G ENSP00000506876.1:p.Ile503Val
ENST00000682757.1:n.3797A>G
ENST00000682855.1:c.2104A>G ENSP00000507027.1:p.Ile702Val
ENST00000682875.1:c.*183A>G ENSP00000507771.1:n.*183A>G
ENST00000682930.1:c.2029A>G ENSP00000507981.1:p.Ile677Val
ENST00000682948.1:n.3136A>G
ENST00000682960.1:n.4345A>G
ENST00000683008.1:n.5559A>G
ENST00000683020.1:c.*645A>G ENSP00000507944.1:n.*645A>G
ENST00000683099.1:n.4133A>G
ENST00000683170.1:n.3829A>G
ENST00000683212.1:c.*645A>G ENSP00000507839.1:n.*645A>G
ENST00000683248.1:n.4062A>G
ENST00000683343.1:n.2958A>G
ENST00000683347.1:n.2311A>G
ENST00000683384.1:c.2125A>G ENSP00000508330.1:n.2125A>G
ENST00000683396.1:n.4881A>G
ENST00000683410.1:n.2585A>G
ENST00000683443.1:n.1738A>G
ENST00000683485.1:n.4672A>G
ENST00000683504.1:n.7695A>G
ENST00000683533.1:c.*1528A>G ENSP00000508296.1:n.*1528A>G
ENST00000683609.1:n.4173A>G
ENST00000683644.1:c.*1278A>G ENSP00000507914.1:n.*1278A>G
ENST00000683690.1:c.*3556A>G ENSP00000508152.1:n.*3556A>G
ENST00000683757.1:n.2093A>G
ENST00000683858.1:c.2056A>G ENSP00000507657.1:p.Ile686Val
ENST00000683875.1:c.1876A>G ENSP00000507602.1:p.Ile626Val
ENST00000683904.1:n.4409A>G
ENST00000683910.1:n.4799A>G
ENST00000683959.1:c.*1153A>G ENSP00000508309.1:n.*1153A>G
ENST00000683976.1:c.*1653A>G ENSP00000507183.1:n.*1653A>G
ENST00000683978.1:n.2247A>G
ENST00000683992.1:c.*1744A>G ENSP00000508144.1:n.*1744A>G
ENST00000684020.1:n.2526A>G
ENST00000684044.1:n.3092A>G
ENST00000684057.1:n.3022A>G
ENST00000684076.1:n.3484A>G
ENST00000684128.1:n.3672A>G
ENST00000684194.1:n.3735A>G
ENST00000684205.1:n.3783A>G
ENST00000684246.1:c.*1744A>G ENSP00000508273.1:n.*1744A>G
ENST00000684388.1:c.1024A>G ENSP00000507647.1:p.Ile342Val
ENST00000684402.1:n.3345A>G
ENST00000684446.1:n.3588A>G
ENST00000684531.1:n.3546A>G
ENST00000684635.1:c.1999A>G ENSP00000507335.1:p.Ile667Val
ENST00000684640.1:c.2066A>G ENSP00000507292.1:n.2066A>G
ENST00000684673.1:c.*699A>G ENSP00000507746.1:n.*699A>G
ENST00000684684.1:c.*1356A>G ENSP00000507026.1:n.*1356A>G
ENST00000245157.11:c.2104A>G MANE Select ENSP00000245157.5:p.Ile702Val
ENST00000245157.9:c.2104A>G ENSP00000245157.5:p.Ile702Val
ENST00000562813.1:n.3591A>G
ENST00000564123.6:c.194A>G
ENST00000564459.5:c.367A>G ENSP00000463731.1:p.Ile123Val
ENST00000565781.5:n.5635A>G
ENST00000568104.5:c.1966A>G ENSP00000456289.1:p.Ile656Val
NM_031885.3:c.2104A>G NP_114091.3:p.Ile702Val
XM_005256080.1:c.2104A>G XP_005256137.1:p.Ile702Val
XM_005256080.2:c.2104A>G XP_005256137.1:p.Ile702Val
XR_001751958.1:n.2465A>G
XR_001751959.2:n.2462A>G
XR_001751960.1:n.2165A>G
XR_001751961.1:n.2165A>G
XR_933380.2:n.2293A>G
NM_031885.4:c.2104A>G NP_114091.3:p.Ile702Val
NM_001377456.1:c.2104A>G NP_001364385.1:p.Ile702Val
NM_031885.5:c.2104A>G MANE Select NP_114091.4:p.Ile702Val
NR_165293.1:n.2394A>G
NR_165294.1:n.2391A>G
NR_165295.1:n.2222A>G
NR_165296.1:n.2094A>G
NR_165297.1:n.2094A>G