Canonical Allele Identifier: CA259829

Gene: BBS2

Linked Data

• ClinVar Variation Id: 30550
• ClinVar RCV Id: RCV000023507 ; RCV001852022 ; RCV004532399
• dbSNP Id: rs137854887
• gnomAD v4: 16-56510923-T-C
• MyVariant Identifiers: chr16:g.56544835T>C (hg19) ; chr16:g.56510923T>C (hg38)
• PubMed: PMID:20618352 ; PMID:22981120

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56510923T>C , CM000678.2:g.56510923T>C	GRCh38
NC_000016.9:g.56544835T>C , CM000678.1:g.56544835T>C	GRCh37
NC_000016.8:g.55102336T>C	NCBI36
NG_009312.1:g.14361A>G
NG_009312.2:g.14102A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562012.2:c.*446-2A>G	ENSP00000455651.2:n.*446-2A>G
ENST00000562059.2:n.469-2A>G
ENST00000565378.2:n.355-2A>G
ENST00000565781.6:n.486-2A>G
ENST00000565859.2:n.127-2A>G
ENST00000566410.2:n.685-2A>G
ENST00000568104.6:c.472-2A>G	ENSP00000456289.1:n.472-2A>G
ENST00000569342.6:n.645-2A>G
ENST00000569941.6:c.25-2A>G	ENSP00000456741.2:n.25-2A>G
ENST00000682001.1:n.466-2A>G
ENST00000682005.1:n.463-2A>G
ENST00000682021.1:n.482-2A>G
ENST00000682038.1:c.472-2A>G	ENSP00000508404.1:n.472-2A>G
ENST00000682047.1:c.472-2A>G	ENSP00000507699.1:n.472-2A>G
ENST00000682088.1:c.472-2A>G	ENSP00000508064.1:n.472-2A>G
ENST00000682096.1:n.678-2A>G
ENST00000682113.1:n.445-2A>G
ENST00000682146.1:n.685-2A>G
ENST00000682187.1:c.472-2A>G	ENSP00000507203.1:n.472-2A>G
ENST00000682188.1:c.472-2A>G	ENSP00000507655.1:n.472-2A>G
ENST00000682201.1:n.463-2A>G
ENST00000682205.1:c.472-2A>G	ENSP00000508377.1:n.472-2A>G
ENST00000682348.1:c.472-2A>G	ENSP00000506965.1:n.472-2A>G
ENST00000682360.1:c.-126-2A>G	ENSP00000508007.1:n.-126-2A>G
ENST00000682370.1:n.678-2A>G
ENST00000682420.1:n.678-2A>G
ENST00000682429.1:c.472-2A>G	ENSP00000506827.1:n.472-2A>G
ENST00000682449.1:c.472-2A>G	ENSP00000507836.1:n.472-2A>G
ENST00000682470.1:c.472-2A>G	ENSP00000507654.1:n.472-2A>G
ENST00000682473.1:n.437-2A>G
ENST00000682482.1:c.346-2A>G	ENSP00000507903.1:n.346-2A>G
ENST00000682492.1:n.516-2A>G
ENST00000682493.1:c.472-2A>G	ENSP00000506778.1:n.472-2A>G
ENST00000682543.1:c.472-2A>G	ENSP00000507592.1:n.472-2A>G
ENST00000682561.1:n.481-2A>G
ENST00000682597.1:n.678-2A>G
ENST00000682658.1:c.472-2A>G	ENSP00000507773.1:n.472-2A>G
ENST00000682705.1:n.678-2A>G
ENST00000682723.1:c.-126-2A>G	ENSP00000507115.1:n.-126-2A>G
ENST00000682735.1:c.472-2A>G	ENSP00000507007.1:n.472-2A>G
ENST00000682737.1:c.-126-2A>G	ENSP00000506876.1:n.-126-2A>G
ENST00000682757.1:n.678-2A>G
ENST00000682855.1:c.472-2A>G	ENSP00000507027.1:n.472-2A>G
ENST00000682857.1:n.685-2A>G
ENST00000682875.1:c.472-2A>G	ENSP00000507771.1:n.472-2A>G
ENST00000682919.1:n.434-2A>G
ENST00000682930.1:c.397-2A>G	ENSP00000507981.1:n.397-2A>G
ENST00000682948.1:n.685-2A>G
ENST00000682960.1:n.685-2A>G
ENST00000683008.1:n.678-2A>G
ENST00000683020.1:c.472-2A>G	ENSP00000507944.1:n.472-2A>G
ENST00000683099.1:n.678-2A>G
ENST00000683170.1:n.616-2A>G
ENST00000683212.1:c.472-2A>G	ENSP00000507839.1:n.472-2A>G
ENST00000683248.1:n.678-2A>G
ENST00000683343.1:n.463-2A>G
ENST00000683347.1:n.463-2A>G
ENST00000683384.1:c.355-2A>G	ENSP00000508330.1:n.355-2A>G
ENST00000683396.1:n.678-2A>G
ENST00000683410.1:n.678-2A>G
ENST00000683485.1:n.685-2A>G
ENST00000683504.1:n.678-2A>G
ENST00000683533.1:c.-126-2A>G	ENSP00000508296.1:n.-126-2A>G
ENST00000683609.1:n.685-2A>G
ENST00000683644.1:c.472-2A>G	ENSP00000507914.1:n.472-2A>G
ENST00000683660.1:n.685-2A>G
ENST00000683669.1:n.355-2A>G
ENST00000683690.1:c.472-2A>G	ENSP00000508152.1:n.472-2A>G
ENST00000683719.1:n.455-2A>G
ENST00000683757.1:n.461-2A>G
ENST00000683858.1:c.472-2A>G	ENSP00000507657.1:n.472-2A>G
ENST00000683875.1:c.244-2A>G	ENSP00000507602.1:n.244-2A>G
ENST00000683904.1:n.685-2A>G
ENST00000683910.1:n.685-2A>G
ENST00000683959.1:c.-126-2A>G	ENSP00000508309.1:n.-126-2A>G
ENST00000683976.1:c.*21-2A>G	ENSP00000507183.1:n.*21-2A>G
ENST00000683978.1:n.615-2A>G
ENST00000683992.1:c.472-2A>G	ENSP00000508144.1:n.472-2A>G
ENST00000684020.1:n.678-2A>G
ENST00000684044.1:n.685-2A>G
ENST00000684057.1:n.674-2A>G
ENST00000684076.1:n.643-2A>G
ENST00000684128.1:n.678-2A>G
ENST00000684194.1:n.678-2A>G
ENST00000684205.1:n.516-2A>G
ENST00000684246.1:c.472-2A>G	ENSP00000508273.1:n.472-2A>G
ENST00000684402.1:n.678-2A>G
ENST00000684446.1:n.685-2A>G
ENST00000684531.1:n.705-2A>G
ENST00000684635.1:c.472-2A>G	ENSP00000507335.1:n.472-2A>G
ENST00000684640.1:c.355-2A>G	ENSP00000507292.1:n.355-2A>G
ENST00000684673.1:c.472-2A>G	ENSP00000507746.1:n.472-2A>G
ENST00000684684.1:c.472-2A>G	ENSP00000507026.1:n.472-2A>G
ENST00000245157.11:c.472-2A>G MANE Select	ENSP00000245157.5:n.472-2A>G
ENST00000245157.9:c.472-2A>G	ENSP00000245157.5:n.472-2A>G
ENST00000561951.5:n.121-2A>G
ENST00000565378.1:n.481-2A>G
ENST00000565781.5:n.486-2A>G
ENST00000566689.5:n.463-2A>G
ENST00000568104.5:c.472-2A>G	ENSP00000456289.1:n.472-2A>G
ENST00000569342.5:n.606-2A>G
ENST00000569941.5:c.-126-2A>G	ENSP00000456741.1:n.-126-2A>G
NM_031885.3:c.472-2A>G	NP_114091.3:n.472-2A>G
XM_005256080.1:c.472-2A>G	XP_005256137.1:n.472-2A>G
XM_005256081.1:c.472-2A>G	XP_005256138.1:n.472-2A>G
XM_005256082.1:c.472-2A>G	XP_005256139.1:n.472-2A>G
XM_011523251.1:c.472-2A>G	XP_011521553.1:n.472-2A>G
XR_933378.1:n.705-2A>G
XR_933379.1:n.705-2A>G
XR_933380.1:n.705-2A>G
XM_005256080.2:c.472-2A>G	XP_005256137.1:n.472-2A>G
XR_001751958.1:n.705-2A>G
XR_001751959.2:n.705-2A>G
XR_001751960.1:n.705-2A>G
XR_001751961.1:n.705-2A>G
XR_933380.2:n.705-2A>G
NM_031885.4:c.472-2A>G	NP_114091.3:n.472-2A>G
NM_001377456.1:c.472-2A>G	NP_001364385.1:n.472-2A>G
NM_031885.5:c.472-2A>G MANE Select	NP_114091.4:n.472-2A>G
NR_165293.1:n.634-2A>G
NR_165294.1:n.634-2A>G
NR_165295.1:n.634-2A>G
NR_165296.1:n.634-2A>G
NR_165297.1:n.634-2A>G