Canonical Allele Identifier: CA2580091654
Community Standard Title: NM_031885.5(BBS2):c.1461del (p.Ser488AlafsTer?)
Gene: BBS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56499845del , CM000678.2:g.56499845del GRCh38
NC_000016.9:g.56533757del , CM000678.1:g.56533757del GRCh37
NC_000016.8:g.55091258del NCBI36
NG_009312.1:g.25440del
NG_009312.2:g.25181del

Transcript Alleles

HGVS Amino-acid Change
NM_031885.5:c.1461del MANE Select NP_114091.4:p.Ser488AlafsTer?
ENST00000245157.11:c.1461del MANE Select ENSP00000245157.5:p.Ser488AlafsTer?
NM_001377456.1:c.1461del NP_001364385.1:p.Ser488AlafsTer?
NM_031885.3:c.1461del NP_114091.3:p.Ser488AlafsTer?
NM_031885.4:c.1461del NP_114091.3:p.Ser488AlafsTer?
NR_165293.1:n.1623del
NR_165294.1:n.1623del
NR_165295.1:n.1451del
NR_165296.1:n.1451del
NR_165297.1:n.1451del
ENST00000245157.9:c.1461del ENSP00000245157.5:p.Ser488AlafsTer?
ENST00000561877.1:c.157del
ENST00000561877.2:c.1323del ENSP00000454986.2:n.1323del
ENST00000562012.1:c.853del ENSP00000455651.1:n.853del
ENST00000562012.2:c.*1290del ENSP00000455651.2:n.*1290del
ENST00000562813.1:n.1076del
ENST00000562813.2:n.1076del
ENST00000564459.6:n.188del
ENST00000565781.5:n.3783del
ENST00000565781.6:n.3783del
ENST00000565859.2:n.2535del
ENST00000566210.1:n.387del
ENST00000566210.2:n.1890del
ENST00000566410.1:n.80del
ENST00000566410.2:n.3766del
ENST00000566452.1:n.156del
ENST00000566452.2:n.156del
ENST00000566495.1:n.430del
ENST00000566495.2:n.430del
ENST00000568104.5:c.1461del ENSP00000456289.1:p.Ser488AlafsTer?
ENST00000568104.6:c.1461del ENSP00000456289.1:p.Ser488AlafsTer?
ENST00000569192.5:n.135del
ENST00000569192.6:n.441del
ENST00000618027.2:n.240del
ENST00000682000.1:n.1019del
ENST00000682001.1:n.2490del
ENST00000682005.1:n.1452del
ENST00000682038.1:c.*725del ENSP00000508404.1:n.*725del
ENST00000682047.1:c.1461del ENSP00000507699.1:p.Ser488AlafsTer?
ENST00000682088.1:c.*3193del ENSP00000508064.1:n.*3193del
ENST00000682096.1:n.2702del
ENST00000682113.1:n.2469del
ENST00000682146.1:n.2493del
ENST00000682187.1:c.*885del ENSP00000507203.1:n.*885del
ENST00000682188.1:c.1461del ENSP00000507655.1:p.Ser488AlafsTer?
ENST00000682201.1:n.1452del
ENST00000682205.1:c.1461del ENSP00000508377.1:p.Ser488AlafsTer?
ENST00000682348.1:c.*510del ENSP00000506965.1:n.*510del
ENST00000682360.1:c.864del ENSP00000508007.1:p.Ser289AlafsTer?
ENST00000682370.1:n.2702del
ENST00000682420.1:n.1883del
ENST00000682429.1:c.*2del ENSP00000506827.1:n.*2del
ENST00000682449.1:c.*212del ENSP00000507836.1:n.*212del
ENST00000682470.1:c.1461del ENSP00000507654.1:p.Ser488AlafsTer?
ENST00000682473.1:n.1426del
ENST00000682482.1:c.1335del ENSP00000507903.1:p.Ser446AlafsTer?
ENST00000682492.1:n.1549del
ENST00000682493.1:c.1461del ENSP00000506778.1:p.Ser488AlafsTer?
ENST00000682543.1:c.*885del ENSP00000507592.1:n.*885del
ENST00000682597.1:n.3648del
ENST00000682658.1:c.*493del ENSP00000507773.1:n.*493del
ENST00000682705.1:n.2530del
ENST00000682723.1:c.864del ENSP00000507115.1:p.Ser289AlafsTer?
ENST00000682735.1:c.*1920del ENSP00000507007.1:n.*1920del
ENST00000682737.1:c.864del ENSP00000506876.1:p.Ser289AlafsTer?
ENST00000682757.1:n.3029del
ENST00000682855.1:c.1461del ENSP00000507027.1:p.Ser488AlafsTer?
ENST00000682857.1:n.1674del
ENST00000682875.1:c.1461del ENSP00000507771.1:p.Ser488AlafsTer?
ENST00000682930.1:c.1386del ENSP00000507981.1:p.Ser463AlafsTer?
ENST00000682948.1:n.2493del
ENST00000682960.1:n.2493del
ENST00000683008.1:n.3648del
ENST00000683020.1:c.*2del ENSP00000507944.1:n.*2del
ENST00000683099.1:n.2702del
ENST00000683170.1:n.1977del
ENST00000683212.1:c.*2del ENSP00000507839.1:n.*2del
ENST00000683248.1:n.2210del
ENST00000683343.1:n.2315del
ENST00000683347.1:n.1668del
ENST00000683384.1:c.1482del ENSP00000508330.1:n.1482del
ENST00000683396.1:n.3029del
ENST00000683410.1:n.1883del
ENST00000683443.1:n.1095del
ENST00000683485.1:n.2820del
ENST00000683504.1:n.5843del
ENST00000683533.1:c.*885del ENSP00000508296.1:n.*885del
ENST00000683609.1:n.2321del
ENST00000683644.1:c.*510del ENSP00000507914.1:n.*510del
ENST00000683660.1:n.1674del
ENST00000683669.1:n.1344del
ENST00000683690.1:c.*1704del ENSP00000508152.1:n.*1704del
ENST00000683719.1:n.1444del
ENST00000683757.1:n.1450del
ENST00000683858.1:c.1413del ENSP00000507657.1:p.Ser472AlafsTer?
ENST00000683875.1:c.1233del ENSP00000507602.1:p.Ser412AlafsTer?
ENST00000683904.1:n.3766del
ENST00000683910.1:n.2947del
ENST00000683959.1:c.*510del ENSP00000508309.1:n.*510del
ENST00000683976.1:c.*1010del ENSP00000507183.1:n.*1010del
ENST00000683978.1:n.1604del
ENST00000683992.1:c.*1101del ENSP00000508144.1:n.*1101del
ENST00000684020.1:n.1883del
ENST00000684044.1:n.2321del
ENST00000684057.1:n.2251del
ENST00000684076.1:n.1632del
ENST00000684128.1:n.3029del
ENST00000684194.1:n.1883del
ENST00000684205.1:n.3140del
ENST00000684246.1:c.*1101del ENSP00000508273.1:n.*1101del
ENST00000684388.1:c.381del ENSP00000507647.1:p.Ser128AlafsTer?
ENST00000684402.1:n.2702del
ENST00000684446.1:n.2820del
ENST00000684531.1:n.1694del
ENST00000684635.1:c.1356del ENSP00000507335.1:p.Ser453AlafsTer?
ENST00000684640.1:c.1295del ENSP00000507292.1:n.1295del
ENST00000684673.1:c.1461del ENSP00000507746.1:p.Ser488AlafsTer?
ENST00000684684.1:c.*713del ENSP00000507026.1:n.*713del
XM_005256080.1:c.1461del XP_005256137.1:p.Ser488AlafsTer?
XM_005256080.2:c.1461del XP_005256137.1:p.Ser488AlafsTer?
XM_005256081.1:c.1461del XP_005256138.1:p.Ser488AlafsTer?
XM_005256082.1:c.1461del XP_005256139.1:p.Ser488AlafsTer?
XR_001751958.1:n.1694del
XR_001751959.2:n.1694del
XR_001751960.1:n.1522del
XR_001751961.1:n.1522del
XR_933378.1:n.1522del
XR_933379.1:n.1522del
XR_933380.1:n.1522del
XR_933380.2:n.1522del