Canonical Allele Identifier: CA281485889

Gene: BBS2

Linked Data

• dbSNP Id: rs370741349
• MyVariant Identifiers: chr16:g.56548592_56548599del (hg19) ; chr16:g.56514680_56514687del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56514680_56514687del , CM000678.2:g.56514680_56514687del	GRCh38
NC_000016.9:g.56548592_56548599del , CM000678.1:g.56548592_56548599del	GRCh37
NC_000016.8:g.55106093_55106100del	NCBI36
NG_009312.1:g.10597_10604del
NG_009312.2:g.10338_10345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562012.2:c.*92-7_*92del
ENST00000562059.2:n.115-7_115del
ENST00000565781.6:n.132-7_132del
ENST00000566410.2:n.331-7_331del
ENST00000568104.6:c.118-7_118del
ENST00000569342.6:n.291-7_291del
ENST00000569941.6:c.-356-7_-356del
ENST00000682001.1:n.112-7_112del
ENST00000682005.1:n.109-7_109del
ENST00000682021.1:n.128-7_128del
ENST00000682038.1:c.118-7_118del
ENST00000682047.1:c.118-7_118del
ENST00000682088.1:c.118-7_118del
ENST00000682096.1:n.324-7_324del
ENST00000682113.1:n.91-7_91del
ENST00000682146.1:n.331-7_331del
ENST00000682187.1:c.118-7_118del
ENST00000682188.1:c.118-7_118del
ENST00000682201.1:n.109-7_109del
ENST00000682205.1:c.118-7_118del
ENST00000682348.1:c.118-7_118del
ENST00000682360.1:c.-480-7_-480del
ENST00000682370.1:n.324-7_324del
ENST00000682420.1:n.324-7_324del
ENST00000682429.1:c.118-7_118del
ENST00000682449.1:c.118-7_118del
ENST00000682470.1:c.118-7_118del
ENST00000682473.1:n.83-7_83del
ENST00000682482.1:c.118-7_118del
ENST00000682492.1:n.162-7_162del
ENST00000682493.1:c.118-7_118del
ENST00000682543.1:c.118-7_118del
ENST00000682561.1:n.127-7_127del
ENST00000682597.1:n.324-7_324del
ENST00000682658.1:c.118-7_118del
ENST00000682705.1:n.324-7_324del
ENST00000682723.1:c.-480-7_-480del
ENST00000682735.1:c.118-7_118del
ENST00000682737.1:c.-480-7_-480del
ENST00000682757.1:n.324-7_324del
ENST00000682855.1:c.118-7_118del
ENST00000682857.1:n.331-7_331del
ENST00000682875.1:c.118-7_118del
ENST00000682919.1:n.80-7_80del
ENST00000682930.1:c.43-7_43del
ENST00000682948.1:n.331-7_331del
ENST00000682960.1:n.331-7_331del
ENST00000683008.1:n.324-7_324del
ENST00000683020.1:c.118-7_118del
ENST00000683099.1:n.324-7_324del
ENST00000683170.1:n.262-7_262del
ENST00000683212.1:c.118-7_118del
ENST00000683248.1:n.324-7_324del
ENST00000683343.1:n.109-7_109del
ENST00000683347.1:n.109-7_109del
ENST00000683396.1:n.324-7_324del
ENST00000683410.1:n.324-7_324del
ENST00000683485.1:n.331-7_331del
ENST00000683504.1:n.324-7_324del
ENST00000683533.1:c.-480-7_-480del
ENST00000683609.1:n.331-7_331del
ENST00000683644.1:c.118-7_118del
ENST00000683660.1:n.331-7_331del
ENST00000683690.1:c.118-7_118del
ENST00000683719.1:n.101-7_101del
ENST00000683757.1:n.107-7_107del
ENST00000683858.1:c.118-7_118del
ENST00000683875.1:c.118-3403_118-3396del	ENSP00000507602.1:n.118-3403_118-3396del
ENST00000683904.1:n.331-7_331del
ENST00000683910.1:n.331-7_331del
ENST00000683959.1:c.-480-7_-480del
ENST00000683976.1:c.118-7_118del
ENST00000683978.1:n.261-7_261del
ENST00000683992.1:c.118-7_118del
ENST00000684020.1:n.324-7_324del
ENST00000684044.1:n.331-7_331del
ENST00000684057.1:n.320-7_320del
ENST00000684076.1:n.289-7_289del
ENST00000684128.1:n.324-7_324del
ENST00000684194.1:n.324-7_324del
ENST00000684205.1:n.155_162del
ENST00000684246.1:c.118-7_118del
ENST00000684402.1:n.324-7_324del
ENST00000684446.1:n.331-7_331del
ENST00000684531.1:n.351-7_351del
ENST00000684635.1:c.118-7_118del
ENST00000684673.1:c.118-7_118del
ENST00000684684.1:c.118-7_118del
ENST00000245157.11:c.118-7_118del
ENST00000245157.9:c.118-7_118del
ENST00000565378.1:n.101-7_101del
ENST00000565781.5:n.132-7_132del
ENST00000566689.5:n.109-7_109del
ENST00000568104.5:c.118-7_118del
ENST00000569342.5:n.252-7_252del
ENST00000569941.5:c.-480-7_-480del
NM_031885.3:c.118-7_118del
XM_005256080.1:c.118-7_118del
XM_005256081.1:c.118-7_118del
XM_005256082.1:c.118-7_118del
XM_011523251.1:c.118-7_118del
XR_933378.1:n.351-7_351del
XR_933379.1:n.351-7_351del
XR_933380.1:n.351-7_351del
XM_005256080.2:c.118-7_118del
XR_001751958.1:n.351-7_351del
XR_001751959.2:n.351-7_351del
XR_001751960.1:n.351-7_351del
XR_001751961.1:n.351-7_351del
XR_933380.2:n.351-7_351del
NM_031885.4:c.118-7_118del
NM_001377456.1:c.118-7_118del
NM_031885.5:c.118-7_118del
NR_165293.1:n.280-7_280del
NR_165294.1:n.280-7_280del
NR_165295.1:n.280-7_280del
NR_165296.1:n.280-7_280del
NR_165297.1:n.280-7_280del