Canonical Allele Identifier: CA622312117

Gene: BBS2

Linked Data

• dbSNP Id: rs1313503281
• gnomAD v2: 16-56545046-AAAAAGAATGTTTTCT-A
• gnomAD v3: 16-56511134-AAAAAGAATGTTTTCT-A
• gnomAD v4: 16-56511134-AAAAAGAATGTTTTCT-A
• MyVariant Identifiers: chr16:g.56545047_56545061del (hg19) ; chr16:g.56511135_56511149del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56511135_56511149del , CM000678.2:g.56511135_56511149del	GRCh38
NC_000016.9:g.56545047_56545061del , CM000678.1:g.56545047_56545061del	GRCh37
NC_000016.8:g.55102548_55102562del	NCBI36
NG_009312.1:g.14135_14149del
NG_009312.2:g.13876_13890del

Transcript Alleles

HGVS	Amino-acid change
ENST00000562012.2:c.*445+10_*445+24del	ENSP00000455651.2:n.*445+10_*445+24del
ENST00000562059.2:n.468+10_468+24del
ENST00000565378.2:n.354+10_354+24del
ENST00000565781.6:n.485+10_485+24del
ENST00000565859.2:n.126+10_126+24del
ENST00000566410.2:n.684+10_684+24del
ENST00000568104.6:c.471+10_471+24del	ENSP00000456289.1:n.471+10_471+24del
ENST00000569342.6:n.644+10_644+24del
ENST00000569941.6:c.8_22del	ENSP00000456741.2:p.Lys3_Leu8delinsMet
ENST00000682001.1:n.465+10_465+24del
ENST00000682005.1:n.462+10_462+24del
ENST00000682021.1:n.481+10_481+24del
ENST00000682038.1:c.471+10_471+24del	ENSP00000508404.1:n.471+10_471+24del
ENST00000682047.1:c.471+10_471+24del	ENSP00000507699.1:n.471+10_471+24del
ENST00000682088.1:c.471+10_471+24del	ENSP00000508064.1:n.471+10_471+24del
ENST00000682096.1:n.677+10_677+24del
ENST00000682113.1:n.444+10_444+24del
ENST00000682146.1:n.684+10_684+24del
ENST00000682187.1:c.471+10_471+24del	ENSP00000507203.1:n.471+10_471+24del
ENST00000682188.1:c.471+10_471+24del	ENSP00000507655.1:n.471+10_471+24del
ENST00000682201.1:n.462+10_462+24del
ENST00000682205.1:c.471+10_471+24del	ENSP00000508377.1:n.471+10_471+24del
ENST00000682348.1:c.471+10_471+24del	ENSP00000506965.1:n.471+10_471+24del
ENST00000682360.1:c.-127+10_-127+24del	ENSP00000508007.1:n.-127+10_-127+24del
ENST00000682370.1:n.677+10_677+24del
ENST00000682420.1:n.677+10_677+24del
ENST00000682429.1:c.471+10_471+24del	ENSP00000506827.1:n.471+10_471+24del
ENST00000682449.1:c.471+10_471+24del	ENSP00000507836.1:n.471+10_471+24del
ENST00000682470.1:c.471+10_471+24del	ENSP00000507654.1:n.471+10_471+24del
ENST00000682473.1:n.436+10_436+24del
ENST00000682482.1:c.346-228_346-214del	ENSP00000507903.1:n.346-228_346-214del
ENST00000682492.1:n.515+10_515+24del
ENST00000682493.1:c.471+10_471+24del	ENSP00000506778.1:n.471+10_471+24del
ENST00000682543.1:c.471+10_471+24del	ENSP00000507592.1:n.471+10_471+24del
ENST00000682561.1:n.480+10_480+24del
ENST00000682597.1:n.677+10_677+24del
ENST00000682658.1:c.471+10_471+24del	ENSP00000507773.1:n.471+10_471+24del
ENST00000682705.1:n.677+10_677+24del
ENST00000682723.1:c.-127+10_-127+24del	ENSP00000507115.1:n.-127+10_-127+24del
ENST00000682735.1:c.471+10_471+24del	ENSP00000507007.1:n.471+10_471+24del
ENST00000682737.1:c.-127+10_-127+24del	ENSP00000506876.1:n.-127+10_-127+24del
ENST00000682757.1:n.677+10_677+24del
ENST00000682855.1:c.471+10_471+24del	ENSP00000507027.1:n.471+10_471+24del
ENST00000682857.1:n.684+10_684+24del
ENST00000682875.1:c.471+10_471+24del	ENSP00000507771.1:n.471+10_471+24del
ENST00000682919.1:n.433+10_433+24del
ENST00000682930.1:c.396+10_396+24del	ENSP00000507981.1:n.396+10_396+24del
ENST00000682948.1:n.684+10_684+24del
ENST00000682960.1:n.684+10_684+24del
ENST00000683008.1:n.677+10_677+24del
ENST00000683020.1:c.471+10_471+24del	ENSP00000507944.1:n.471+10_471+24del
ENST00000683099.1:n.677+10_677+24del
ENST00000683170.1:n.615+10_615+24del
ENST00000683212.1:c.471+10_471+24del	ENSP00000507839.1:n.471+10_471+24del
ENST00000683248.1:n.677+10_677+24del
ENST00000683343.1:n.462+10_462+24del
ENST00000683347.1:n.462+10_462+24del
ENST00000683384.1:c.354+10_354+24del	ENSP00000508330.1:n.354+10_354+24del
ENST00000683396.1:n.677+10_677+24del
ENST00000683410.1:n.677+10_677+24del
ENST00000683485.1:n.684+10_684+24del
ENST00000683504.1:n.677+10_677+24del
ENST00000683533.1:c.-127+10_-127+24del	ENSP00000508296.1:n.-127+10_-127+24del
ENST00000683609.1:n.684+10_684+24del
ENST00000683644.1:c.471+10_471+24del	ENSP00000507914.1:n.471+10_471+24del
ENST00000683660.1:n.684+10_684+24del
ENST00000683669.1:n.354+10_354+24del
ENST00000683690.1:c.471+10_471+24del	ENSP00000508152.1:n.471+10_471+24del
ENST00000683719.1:n.454+10_454+24del
ENST00000683757.1:n.460+10_460+24del
ENST00000683858.1:c.471+10_471+24del	ENSP00000507657.1:n.471+10_471+24del
ENST00000683875.1:c.243+10_243+24del	ENSP00000507602.1:n.243+10_243+24del
ENST00000683904.1:n.684+10_684+24del
ENST00000683910.1:n.684+10_684+24del
ENST00000683959.1:c.-127+10_-127+24del	ENSP00000508309.1:n.-127+10_-127+24del
ENST00000683976.1:c.*4_*18del	ENSP00000507183.1:n.*4_*18del
ENST00000683978.1:n.614+10_614+24del
ENST00000683992.1:c.471+10_471+24del	ENSP00000508144.1:n.471+10_471+24del
ENST00000684020.1:n.677+10_677+24del
ENST00000684044.1:n.684+10_684+24del
ENST00000684057.1:n.673+10_673+24del
ENST00000684076.1:n.642+10_642+24del
ENST00000684128.1:n.677+10_677+24del
ENST00000684194.1:n.677+10_677+24del
ENST00000684205.1:n.515+10_515+24del
ENST00000684246.1:c.471+10_471+24del	ENSP00000508273.1:n.471+10_471+24del
ENST00000684402.1:n.677+10_677+24del
ENST00000684446.1:n.684+10_684+24del
ENST00000684531.1:n.704+10_704+24del
ENST00000684635.1:c.471+10_471+24del	ENSP00000507335.1:n.471+10_471+24del
ENST00000684640.1:c.354+10_354+24del	ENSP00000507292.1:n.354+10_354+24del
ENST00000684673.1:c.471+10_471+24del	ENSP00000507746.1:n.471+10_471+24del
ENST00000684684.1:c.471+10_471+24del	ENSP00000507026.1:n.471+10_471+24del
ENST00000245157.11:c.471+10_471+24del MANE Select	ENSP00000245157.5:n.471+10_471+24del
ENST00000245157.9:c.471+10_471+24del	ENSP00000245157.5:n.471+10_471+24del
ENST00000561951.5:n.120+10_120+24del
ENST00000565378.1:n.464_478del
ENST00000565781.5:n.485+10_485+24del
ENST00000566689.5:n.462+10_462+24del
ENST00000568104.5:c.471+10_471+24del	ENSP00000456289.1:n.471+10_471+24del
ENST00000569342.5:n.605+10_605+24del
ENST00000569941.5:c.-127+10_-127+24del	ENSP00000456741.1:n.-127+10_-127+24del
NM_031885.3:c.471+10_471+24del	NP_114091.3:n.471+10_471+24del
XM_005256080.1:c.471+10_471+24del	XP_005256137.1:n.471+10_471+24del
XM_005256081.1:c.471+10_471+24del	XP_005256138.1:n.471+10_471+24del
XM_005256082.1:c.471+10_471+24del	XP_005256139.1:n.471+10_471+24del
XM_011523251.1:c.471+10_471+24del	XP_011521553.1:n.471+10_471+24del
XR_933378.1:n.704+10_704+24del
XR_933379.1:n.704+10_704+24del
XR_933380.1:n.704+10_704+24del
XM_005256080.2:c.471+10_471+24del	XP_005256137.1:n.471+10_471+24del
XR_001751958.1:n.704+10_704+24del
XR_001751959.2:n.704+10_704+24del
XR_001751960.1:n.704+10_704+24del
XR_001751961.1:n.704+10_704+24del
XR_933380.2:n.704+10_704+24del
NM_031885.4:c.471+10_471+24del	NP_114091.3:n.471+10_471+24del
NM_001377456.1:c.471+10_471+24del	NP_001364385.1:n.471+10_471+24del
NM_031885.5:c.471+10_471+24del MANE Select	NP_114091.4:n.471+10_471+24del
NR_165293.1:n.633+10_633+24del
NR_165294.1:n.633+10_633+24del
NR_165295.1:n.633+10_633+24del
NR_165296.1:n.633+10_633+24del
NR_165297.1:n.633+10_633+24del