Canonical Allele Identifier: CA8065976

Gene: BBS2

Linked Data

• ClinVar Variation Id: 850744
• ClinVar RCV Id: RCV001054983 ; RCV001376259 ; RCV001836095 ; RCV002489640 ; RCV003413865
• dbSNP Id: rs764600063
• ExAC: 16:56540114 A / G
• gnomAD v2: 16-56540114-A-G
• gnomAD v3: 16-56506202-A-G
• gnomAD v4: 16-56506202-A-G
• MyVariant Identifiers: chr16:g.56540114A>G (hg19) ; chr16:g.56506202A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56506202A>G , CM000678.2:g.56506202A>G	GRCh38
NC_000016.9:g.56540114A>G , CM000678.1:g.56540114A>G	GRCh37
NC_000016.8:g.55097615A>G	NCBI36
NG_009312.1:g.19082T>C
NG_009312.2:g.18823T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000562012.2:c.*609T>C	ENSP00000455651.2:n.*609T>C
ENST00000562059.2:n.632T>C
ENST00000565378.2:n.572T>C
ENST00000565781.6:n.649T>C
ENST00000565859.2:n.890T>C
ENST00000566410.2:n.848T>C
ENST00000568104.6:c.635T>C	ENSP00000456289.1:p.Met212Thr
ENST00000569342.6:n.808T>C
ENST00000682000.1:n.193T>C
ENST00000682001.1:n.629T>C
ENST00000682005.1:n.626T>C
ENST00000682021.1:n.645T>C
ENST00000682038.1:c.631T>C	ENSP00000508404.1:p.Cys211Arg
ENST00000682047.1:c.635T>C	ENSP00000507699.1:p.Met212Thr
ENST00000682088.1:c.*59T>C	ENSP00000508064.1:n.*59T>C
ENST00000682096.1:n.841T>C
ENST00000682113.1:n.608T>C
ENST00000682146.1:n.848T>C
ENST00000682187.1:c.*59T>C	ENSP00000507203.1:n.*59T>C
ENST00000682188.1:c.635T>C	ENSP00000507655.1:p.Met212Thr
ENST00000682201.1:n.626T>C
ENST00000682205.1:c.635T>C	ENSP00000508377.1:p.Met212Thr
ENST00000682348.1:c.635T>C	ENSP00000506965.1:p.Met212Thr
ENST00000682360.1:c.38T>C	ENSP00000508007.1:p.Met13Thr
ENST00000682370.1:n.841T>C
ENST00000682420.1:n.841T>C
ENST00000682429.1:c.635T>C	ENSP00000506827.1:p.Met212Thr
ENST00000682449.1:c.635T>C	ENSP00000507836.1:p.Met212Thr
ENST00000682470.1:c.635T>C	ENSP00000507654.1:p.Met212Thr
ENST00000682473.1:n.600T>C
ENST00000682482.1:c.509T>C	ENSP00000507903.1:p.Met170Thr
ENST00000682492.1:n.679T>C
ENST00000682493.1:c.635T>C	ENSP00000506778.1:p.Met212Thr
ENST00000682543.1:c.*59T>C	ENSP00000507592.1:n.*59T>C
ENST00000682561.1:n.644T>C
ENST00000682597.1:n.841T>C
ENST00000682658.1:c.635T>C	ENSP00000507773.1:p.Met212Thr
ENST00000682705.1:n.841T>C
ENST00000682723.1:c.38T>C	ENSP00000507115.1:p.Met13Thr
ENST00000682735.1:c.*59T>C	ENSP00000507007.1:n.*59T>C
ENST00000682737.1:c.38T>C	ENSP00000506876.1:p.Met13Thr
ENST00000682757.1:n.841T>C
ENST00000682855.1:c.635T>C	ENSP00000507027.1:p.Met212Thr
ENST00000682857.1:n.848T>C
ENST00000682875.1:c.635T>C	ENSP00000507771.1:p.Met212Thr
ENST00000682919.1:n.735T>C
ENST00000682930.1:c.560T>C	ENSP00000507981.1:p.Met187Thr
ENST00000682948.1:n.848T>C
ENST00000682960.1:n.848T>C
ENST00000683008.1:n.841T>C
ENST00000683020.1:c.635T>C	ENSP00000507944.1:p.Met212Thr
ENST00000683099.1:n.841T>C
ENST00000683170.1:n.779T>C
ENST00000683212.1:c.635T>C	ENSP00000507839.1:p.Met212Thr
ENST00000683248.1:n.841T>C
ENST00000683343.1:n.626T>C
ENST00000683347.1:n.626T>C
ENST00000683384.1:c.656T>C	ENSP00000508330.1:n.656T>C
ENST00000683396.1:n.841T>C
ENST00000683410.1:n.841T>C
ENST00000683443.1:n.269T>C
ENST00000683485.1:n.848T>C
ENST00000683504.1:n.841T>C
ENST00000683533.1:c.*59T>C	ENSP00000508296.1:n.*59T>C
ENST00000683609.1:n.848T>C
ENST00000683644.1:c.635T>C	ENSP00000507914.1:p.Met212Thr
ENST00000683660.1:n.848T>C
ENST00000683669.1:n.518T>C
ENST00000683690.1:c.*59T>C	ENSP00000508152.1:n.*59T>C
ENST00000683719.1:n.618T>C
ENST00000683757.1:n.624T>C
ENST00000683858.1:c.635T>C	ENSP00000507657.1:p.Met212Thr
ENST00000683875.1:c.407T>C	ENSP00000507602.1:p.Met136Thr
ENST00000683904.1:n.848T>C
ENST00000683910.1:n.848T>C
ENST00000683959.1:c.38T>C	ENSP00000508309.1:p.Met13Thr
ENST00000683976.1:c.*184T>C	ENSP00000507183.1:n.*184T>C
ENST00000683978.1:n.778T>C
ENST00000683992.1:c.*59T>C	ENSP00000508144.1:n.*59T>C
ENST00000684020.1:n.841T>C
ENST00000684044.1:n.848T>C
ENST00000684057.1:n.837T>C
ENST00000684076.1:n.806T>C
ENST00000684128.1:n.841T>C
ENST00000684194.1:n.841T>C
ENST00000684205.1:n.1279T>C
ENST00000684246.1:c.*59T>C	ENSP00000508273.1:n.*59T>C
ENST00000684402.1:n.841T>C
ENST00000684446.1:n.848T>C
ENST00000684531.1:n.868T>C
ENST00000684635.1:c.613-166T>C	ENSP00000507335.1:n.613-166T>C
ENST00000684640.1:c.518T>C	ENSP00000507292.1:p.Met173Thr
ENST00000684673.1:c.635T>C	ENSP00000507746.1:p.Met212Thr
ENST00000684684.1:c.*59T>C	ENSP00000507026.1:n.*59T>C
ENST00000245157.11:c.635T>C MANE Select	ENSP00000245157.5:p.Met212Thr
ENST00000245157.9:c.635T>C	ENSP00000245157.5:p.Met212Thr
ENST00000561951.5:n.284T>C
ENST00000562012.1:c.56T>C	ENSP00000455651.1:p.Met19Thr
ENST00000565781.5:n.649T>C
ENST00000565859.1:n.634T>C
ENST00000568104.5:c.635T>C	ENSP00000456289.1:p.Met212Thr
ENST00000569342.5:n.769T>C
NM_031885.3:c.635T>C	NP_114091.3:p.Met212Thr
XM_005256080.1:c.635T>C	XP_005256137.1:p.Met212Thr
XM_005256081.1:c.635T>C	XP_005256138.1:p.Met212Thr
XM_005256082.1:c.635T>C	XP_005256139.1:p.Met212Thr
XM_011523251.1:c.635T>C	XP_011521553.1:p.Met212Thr
XR_933378.1:n.868T>C
XR_933379.1:n.868T>C
XR_933380.1:n.868T>C
XM_005256080.2:c.635T>C	XP_005256137.1:p.Met212Thr
XR_001751958.1:n.868T>C
XR_001751959.2:n.868T>C
XR_001751960.1:n.868T>C
XR_001751961.1:n.868T>C
XR_933380.2:n.868T>C
NM_031885.4:c.635T>C	NP_114091.3:p.Met212Thr
NM_001377456.1:c.635T>C	NP_001364385.1:p.Met212Thr
NM_031885.5:c.635T>C MANE Select	NP_114091.4:p.Met212Thr
NR_165293.1:n.797T>C
NR_165294.1:n.797T>C
NR_165295.1:n.797T>C
NR_165296.1:n.797T>C
NR_165297.1:n.797T>C