Canonical Allele Identifier: CA260182

Gene: BBS2

Linked Data

• ClinVar Variation Id: 35754
• ClinVar RCV Id: RCV000029406 ; RCV000672755
• dbSNP Id: rs193922710
• gnomAD v4: 16-56502382-G-A
• MyVariant Identifiers: chr16:g.56536294G>A (hg19) ; chr16:g.56502382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56502382G>A , CM000678.2:g.56502382G>A	GRCh38
NC_000016.9:g.56536294G>A , CM000678.1:g.56536294G>A	GRCh37
NC_000016.8:g.55093795G>A	NCBI36
NG_009312.1:g.22902C>T
NG_009312.2:g.22643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561877.2:c.298C>T	ENSP00000454986.2:p.Arg100Ter
ENST00000562012.2:c.*989C>T	ENSP00000455651.2:n.*989C>T
ENST00000562059.2:n.1228C>T
ENST00000565378.2:n.952C>T
ENST00000565781.6:n.1245C>T
ENST00000565859.2:n.1270C>T
ENST00000566210.2:n.298C>T
ENST00000566410.2:n.1228C>T
ENST00000568104.6:c.1015C>T	ENSP00000456289.1:p.Arg339Ter
ENST00000569342.6:n.1404C>T
ENST00000682000.1:n.573C>T
ENST00000682001.1:n.1225C>T
ENST00000682005.1:n.1006C>T
ENST00000682021.1:n.1025C>T
ENST00000682038.1:c.*279C>T	ENSP00000508404.1:n.*279C>T
ENST00000682047.1:c.1015C>T	ENSP00000507699.1:p.Arg339Ter
ENST00000682088.1:c.*655C>T	ENSP00000508064.1:n.*655C>T
ENST00000682096.1:n.1437C>T
ENST00000682113.1:n.1204C>T
ENST00000682146.1:n.1228C>T
ENST00000682187.1:c.*439C>T	ENSP00000507203.1:n.*439C>T
ENST00000682188.1:c.1015C>T	ENSP00000507655.1:p.Arg339Ter
ENST00000682201.1:n.1006C>T
ENST00000682205.1:c.1015C>T	ENSP00000508377.1:p.Arg339Ter
ENST00000682348.1:c.1015C>T	ENSP00000506965.1:p.Arg339Ter
ENST00000682360.1:c.418C>T	ENSP00000508007.1:p.Arg140Ter
ENST00000682370.1:n.1437C>T
ENST00000682420.1:n.1437C>T
ENST00000682429.1:c.1015C>T	ENSP00000506827.1:p.Arg339Ter
ENST00000682449.1:c.1015C>T	ENSP00000507836.1:p.Arg339Ter
ENST00000682470.1:c.1015C>T	ENSP00000507654.1:p.Arg339Ter
ENST00000682473.1:n.980C>T
ENST00000682482.1:c.889C>T	ENSP00000507903.1:p.Arg297Ter
ENST00000682492.1:n.1275C>T
ENST00000682493.1:c.1015C>T	ENSP00000506778.1:p.Arg339Ter
ENST00000682543.1:c.*439C>T	ENSP00000507592.1:n.*439C>T
ENST00000682561.1:n.1024C>T
ENST00000682597.1:n.1437C>T
ENST00000682658.1:c.*47C>T	ENSP00000507773.1:n.*47C>T
ENST00000682705.1:n.1437C>T
ENST00000682723.1:c.418C>T	ENSP00000507115.1:p.Arg140Ter
ENST00000682735.1:c.*655C>T	ENSP00000507007.1:n.*655C>T
ENST00000682737.1:c.418C>T	ENSP00000506876.1:p.Arg140Ter
ENST00000682757.1:n.1437C>T
ENST00000682855.1:c.1015C>T	ENSP00000507027.1:p.Arg339Ter
ENST00000682857.1:n.1228C>T
ENST00000682875.1:c.1015C>T	ENSP00000507771.1:p.Arg339Ter
ENST00000682919.1:n.1331C>T
ENST00000682930.1:c.940C>T	ENSP00000507981.1:p.Arg314Ter
ENST00000682948.1:n.1228C>T
ENST00000682960.1:n.1228C>T
ENST00000683008.1:n.1437C>T
ENST00000683020.1:c.1015C>T	ENSP00000507944.1:p.Arg339Ter
ENST00000683099.1:n.1437C>T
ENST00000683170.1:n.1159C>T
ENST00000683212.1:c.1015C>T	ENSP00000507839.1:p.Arg339Ter
ENST00000683248.1:n.1437C>T
ENST00000683343.1:n.1222C>T
ENST00000683347.1:n.1222C>T
ENST00000683384.1:c.1036C>T	ENSP00000508330.1:n.1036C>T
ENST00000683396.1:n.1437C>T
ENST00000683410.1:n.1437C>T
ENST00000683443.1:n.649C>T
ENST00000683485.1:n.1228C>T
ENST00000683504.1:n.4578C>T
ENST00000683533.1:c.*439C>T	ENSP00000508296.1:n.*439C>T
ENST00000683609.1:n.1228C>T
ENST00000683644.1:c.1015C>T	ENSP00000507914.1:p.Arg339Ter
ENST00000683660.1:n.1228C>T
ENST00000683669.1:n.898C>T
ENST00000683690.1:c.*439C>T	ENSP00000508152.1:n.*439C>T
ENST00000683719.1:n.998C>T
ENST00000683757.1:n.1004C>T
ENST00000683858.1:c.1015C>T	ENSP00000507657.1:p.Arg339Ter
ENST00000683875.1:c.787C>T	ENSP00000507602.1:p.Arg263Ter
ENST00000683904.1:n.1228C>T
ENST00000683910.1:n.1228C>T
ENST00000683959.1:c.418C>T	ENSP00000508309.1:p.Arg140Ter
ENST00000683976.1:c.*564C>T	ENSP00000507183.1:n.*564C>T
ENST00000683978.1:n.1158C>T
ENST00000683992.1:c.*655C>T	ENSP00000508144.1:n.*655C>T
ENST00000684020.1:n.1437C>T
ENST00000684044.1:n.1228C>T
ENST00000684057.1:n.1433C>T
ENST00000684076.1:n.1186C>T
ENST00000684128.1:n.1437C>T
ENST00000684194.1:n.1437C>T
ENST00000684205.1:n.1875C>T
ENST00000684246.1:c.*655C>T	ENSP00000508273.1:n.*655C>T
ENST00000684402.1:n.1437C>T
ENST00000684446.1:n.1228C>T
ENST00000684531.1:n.1248C>T
ENST00000684635.1:c.910C>T	ENSP00000507335.1:p.Arg304Ter
ENST00000684640.1:c.1021C>T	ENSP00000507292.1:n.1021C>T
ENST00000684673.1:c.1015C>T	ENSP00000507746.1:p.Arg339Ter
ENST00000684684.1:c.*439C>T	ENSP00000507026.1:n.*439C>T
ENST00000245157.11:c.1015C>T MANE Select	ENSP00000245157.5:p.Arg339Ter
ENST00000245157.9:c.1015C>T	ENSP00000245157.5:p.Arg339Ter
ENST00000561853.1:n.313C>T
ENST00000561951.5:n.664C>T
ENST00000562012.1:c.407C>T	ENSP00000455651.1:n.407C>T
ENST00000565781.5:n.1245C>T
ENST00000568104.5:c.1015C>T	ENSP00000456289.1:p.Arg339Ter
ENST00000569342.5:n.1365C>T
NM_031885.3:c.1015C>T	NP_114091.3:p.Arg339Ter
XM_005256080.1:c.1015C>T	XP_005256137.1:p.Arg339Ter
XM_005256081.1:c.1015C>T	XP_005256138.1:p.Arg339Ter
XM_005256082.1:c.1015C>T	XP_005256139.1:p.Arg339Ter
XM_011523251.1:c.1015C>T	XP_011521553.1:p.Arg339Ter
XR_933378.1:n.1248C>T
XR_933379.1:n.1248C>T
XR_933380.1:n.1248C>T
XM_005256080.2:c.1015C>T	XP_005256137.1:p.Arg339Ter
XR_001751958.1:n.1248C>T
XR_001751959.2:n.1248C>T
XR_001751960.1:n.1248C>T
XR_001751961.1:n.1248C>T
XR_933380.2:n.1248C>T
NM_031885.4:c.1015C>T	NP_114091.3:p.Arg339Ter
NM_001377456.1:c.1015C>T	NP_001364385.1:p.Arg339Ter
NM_031885.5:c.1015C>T MANE Select	NP_114091.4:p.Arg339Ter
NR_165293.1:n.1177C>T
NR_165294.1:n.1177C>T
NR_165295.1:n.1177C>T
NR_165296.1:n.1177C>T
NR_165297.1:n.1177C>T