Canonical Allele Identifier: CA395985760

Gene: BBS2

Linked Data

• MyVariant Identifiers: chr16:g.56548461C>G (hg19) ; chr16:g.56514549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56514549C>G , CM000678.2:g.56514549C>G	GRCh38
NC_000016.9:g.56548461C>G , CM000678.1:g.56548461C>G	GRCh37
NC_000016.8:g.55105962C>G	NCBI36
NG_009312.1:g.10735G>C
NG_009312.2:g.10476G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562012.2:c.*223G>C	ENSP00000455651.2:n.*223G>C
ENST00000562059.2:n.246G>C
ENST00000565378.2:n.132G>C
ENST00000565781.6:n.263G>C
ENST00000566410.2:n.462G>C
ENST00000568104.6:c.249G>C	ENSP00000456289.1:p.Leu83Phe
ENST00000569342.6:n.422G>C
ENST00000569941.6:c.-225G>C	ENSP00000456741.2:n.-225G>C
ENST00000682001.1:n.243G>C
ENST00000682005.1:n.240G>C
ENST00000682021.1:n.259G>C
ENST00000682038.1:c.249G>C	ENSP00000508404.1:p.Leu83Phe
ENST00000682047.1:c.249G>C	ENSP00000507699.1:p.Leu83Phe
ENST00000682088.1:c.249G>C	ENSP00000508064.1:p.Leu83Phe
ENST00000682096.1:n.455G>C
ENST00000682113.1:n.222G>C
ENST00000682146.1:n.462G>C
ENST00000682187.1:c.249G>C	ENSP00000507203.1:p.Leu83Phe
ENST00000682188.1:c.249G>C	ENSP00000507655.1:p.Leu83Phe
ENST00000682201.1:n.240G>C
ENST00000682205.1:c.249G>C	ENSP00000508377.1:p.Leu83Phe
ENST00000682348.1:c.249G>C	ENSP00000506965.1:p.Leu83Phe
ENST00000682360.1:c.-349G>C	ENSP00000508007.1:n.-349G>C
ENST00000682370.1:n.455G>C
ENST00000682420.1:n.455G>C
ENST00000682429.1:c.249G>C	ENSP00000506827.1:p.Leu83Phe
ENST00000682449.1:c.249G>C	ENSP00000507836.1:p.Leu83Phe
ENST00000682470.1:c.249G>C	ENSP00000507654.1:p.Leu83Phe
ENST00000682473.1:n.214G>C
ENST00000682482.1:c.249G>C	ENSP00000507903.1:p.Leu83Phe
ENST00000682492.1:n.293G>C
ENST00000682493.1:c.249G>C	ENSP00000506778.1:p.Leu83Phe
ENST00000682543.1:c.249G>C	ENSP00000507592.1:p.Leu83Phe
ENST00000682561.1:n.258G>C
ENST00000682597.1:n.455G>C
ENST00000682658.1:c.249G>C	ENSP00000507773.1:p.Leu83Phe
ENST00000682705.1:n.455G>C
ENST00000682723.1:c.-349G>C	ENSP00000507115.1:n.-349G>C
ENST00000682735.1:c.249G>C	ENSP00000507007.1:p.Leu83Phe
ENST00000682737.1:c.-349G>C	ENSP00000506876.1:n.-349G>C
ENST00000682757.1:n.455G>C
ENST00000682855.1:c.249G>C	ENSP00000507027.1:p.Leu83Phe
ENST00000682857.1:n.462G>C
ENST00000682875.1:c.249G>C	ENSP00000507771.1:p.Leu83Phe
ENST00000682919.1:n.211G>C
ENST00000682930.1:c.174G>C	ENSP00000507981.1:p.Leu58Phe
ENST00000682948.1:n.462G>C
ENST00000682960.1:n.462G>C
ENST00000683008.1:n.455G>C
ENST00000683020.1:c.249G>C	ENSP00000507944.1:p.Leu83Phe
ENST00000683099.1:n.455G>C
ENST00000683170.1:n.393G>C
ENST00000683212.1:c.249G>C	ENSP00000507839.1:p.Leu83Phe
ENST00000683248.1:n.455G>C
ENST00000683343.1:n.240G>C
ENST00000683347.1:n.240G>C
ENST00000683384.1:c.132G>C	ENSP00000508330.1:p.Leu44Phe
ENST00000683396.1:n.455G>C
ENST00000683410.1:n.455G>C
ENST00000683485.1:n.462G>C
ENST00000683504.1:n.455G>C
ENST00000683533.1:c.-349G>C	ENSP00000508296.1:n.-349G>C
ENST00000683609.1:n.462G>C
ENST00000683644.1:c.249G>C	ENSP00000507914.1:p.Leu83Phe
ENST00000683660.1:n.462G>C
ENST00000683669.1:n.132G>C
ENST00000683690.1:c.249G>C	ENSP00000508152.1:p.Leu83Phe
ENST00000683719.1:n.232G>C
ENST00000683757.1:n.238G>C
ENST00000683858.1:c.249G>C	ENSP00000507657.1:p.Leu83Phe
ENST00000683875.1:c.118-3265G>C	ENSP00000507602.1:n.118-3265G>C
ENST00000683904.1:n.462G>C
ENST00000683910.1:n.462G>C
ENST00000683959.1:c.-349G>C	ENSP00000508309.1:n.-349G>C
ENST00000683976.1:c.249G>C	ENSP00000507183.1:p.Leu83Phe
ENST00000683978.1:n.392G>C
ENST00000683992.1:c.249G>C	ENSP00000508144.1:p.Leu83Phe
ENST00000684020.1:n.455G>C
ENST00000684044.1:n.462G>C
ENST00000684057.1:n.451G>C
ENST00000684076.1:n.420G>C
ENST00000684128.1:n.455G>C
ENST00000684194.1:n.455G>C
ENST00000684205.1:n.293G>C
ENST00000684246.1:c.249G>C	ENSP00000508273.1:p.Leu83Phe
ENST00000684402.1:n.455G>C
ENST00000684446.1:n.462G>C
ENST00000684531.1:n.482G>C
ENST00000684635.1:c.249G>C	ENSP00000507335.1:p.Leu83Phe
ENST00000684640.1:c.132G>C	ENSP00000507292.1:p.Leu44Phe
ENST00000684673.1:c.249G>C	ENSP00000507746.1:p.Leu83Phe
ENST00000684684.1:c.249G>C	ENSP00000507026.1:p.Leu83Phe
ENST00000245157.11:c.249G>C MANE Select	ENSP00000245157.5:p.Leu83Phe
ENST00000245157.9:c.249G>C	ENSP00000245157.5:p.Leu83Phe
ENST00000565378.1:n.232G>C
ENST00000565781.5:n.263G>C
ENST00000566689.5:n.240G>C
ENST00000568104.5:c.249G>C	ENSP00000456289.1:p.Leu83Phe
ENST00000569342.5:n.383G>C
ENST00000569941.5:c.-349G>C	ENSP00000456741.1:n.-349G>C
NM_031885.3:c.249G>C	NP_114091.3:p.Leu83Phe
XM_005256080.1:c.249G>C	XP_005256137.1:p.Leu83Phe
XM_005256081.1:c.249G>C	XP_005256138.1:p.Leu83Phe
XM_005256082.1:c.249G>C	XP_005256139.1:p.Leu83Phe
XM_011523251.1:c.249G>C	XP_011521553.1:p.Leu83Phe
XR_933378.1:n.482G>C
XR_933379.1:n.482G>C
XR_933380.1:n.482G>C
XM_005256080.2:c.249G>C	XP_005256137.1:p.Leu83Phe
XR_001751958.1:n.482G>C
XR_001751959.2:n.482G>C
XR_001751960.1:n.482G>C
XR_001751961.1:n.482G>C
XR_933380.2:n.482G>C
NM_031885.4:c.249G>C	NP_114091.3:p.Leu83Phe
NM_001377456.1:c.249G>C	NP_001364385.1:p.Leu83Phe
NM_031885.5:c.249G>C MANE Select	NP_114091.4:p.Leu83Phe
NR_165293.1:n.411G>C
NR_165294.1:n.411G>C
NR_165295.1:n.411G>C
NR_165296.1:n.411G>C
NR_165297.1:n.411G>C