Canonical Allele Identifier: CA253240
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4584
ClinVar RCV Id: RCV000004846
dbSNP Id: rs121908181
MyVariant Identifiers: chr16:g.56545126C>A (hg19) chr16:g.56511214C>A (hg38)
PubMed: PMID:16582908 PMID:16823392
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56511214C>A , CM000678.2:g.56511214C>A GRCh38
NC_000016.9:g.56545126C>A , CM000678.1:g.56545126C>A GRCh37
NC_000016.8:g.55102627C>A NCBI36
NG_009312.1:g.14070G>T
NG_009312.2:g.13811G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000562012.2:c.*390G>T ENSP00000455651.2:n.*390G>T
ENST00000562059.2:n.413G>T
ENST00000565378.2:n.299G>T
ENST00000565781.6:n.430G>T
ENST00000565859.2:n.71G>T
ENST00000566410.2:n.629G>T
ENST00000568104.6:c.416G>T ENSP00000456289.1:p.Gly139Val
ENST00000569342.6:n.589G>T
ENST00000569941.6:c.-58G>T ENSP00000456741.2:n.-58G>T
ENST00000682001.1:n.410G>T
ENST00000682005.1:n.407G>T
ENST00000682021.1:n.426G>T
ENST00000682038.1:c.416G>T ENSP00000508404.1:p.Gly139Val
ENST00000682047.1:c.416G>T ENSP00000507699.1:p.Gly139Val
ENST00000682088.1:c.416G>T ENSP00000508064.1:p.Gly139Val
ENST00000682096.1:n.622G>T
ENST00000682113.1:n.389G>T
ENST00000682146.1:n.629G>T
ENST00000682187.1:c.416G>T ENSP00000507203.1:p.Gly139Val
ENST00000682188.1:c.416G>T ENSP00000507655.1:p.Gly139Val
ENST00000682201.1:n.407G>T
ENST00000682205.1:c.416G>T ENSP00000508377.1:p.Gly139Val
ENST00000682348.1:c.416G>T ENSP00000506965.1:p.Gly139Val
ENST00000682360.1:c.-182G>T ENSP00000508007.1:n.-182G>T
ENST00000682370.1:n.622G>T
ENST00000682420.1:n.622G>T
ENST00000682429.1:c.416G>T ENSP00000506827.1:p.Gly139Val
ENST00000682449.1:c.416G>T ENSP00000507836.1:p.Gly139Val
ENST00000682470.1:c.416G>T ENSP00000507654.1:p.Gly139Val
ENST00000682473.1:n.381G>T
ENST00000682482.1:c.346-293G>T ENSP00000507903.1:n.346-293G>T
ENST00000682492.1:n.460G>T
ENST00000682493.1:c.416G>T ENSP00000506778.1:p.Gly139Val
ENST00000682543.1:c.416G>T ENSP00000507592.1:p.Gly139Val
ENST00000682561.1:n.425G>T
ENST00000682597.1:n.622G>T
ENST00000682658.1:c.416G>T ENSP00000507773.1:p.Gly139Val
ENST00000682705.1:n.622G>T
ENST00000682723.1:c.-182G>T ENSP00000507115.1:n.-182G>T
ENST00000682735.1:c.416G>T ENSP00000507007.1:p.Gly139Val
ENST00000682737.1:c.-182G>T ENSP00000506876.1:n.-182G>T
ENST00000682757.1:n.622G>T
ENST00000682855.1:c.416G>T ENSP00000507027.1:p.Gly139Val
ENST00000682857.1:n.629G>T
ENST00000682875.1:c.416G>T ENSP00000507771.1:p.Gly139Val
ENST00000682919.1:n.378G>T
ENST00000682930.1:c.341G>T ENSP00000507981.1:p.Gly114Val
ENST00000682948.1:n.629G>T
ENST00000682960.1:n.629G>T
ENST00000683008.1:n.622G>T
ENST00000683020.1:c.416G>T ENSP00000507944.1:p.Gly139Val
ENST00000683099.1:n.622G>T
ENST00000683170.1:n.560G>T
ENST00000683212.1:c.416G>T ENSP00000507839.1:p.Gly139Val
ENST00000683248.1:n.622G>T
ENST00000683343.1:n.407G>T
ENST00000683347.1:n.407G>T
ENST00000683384.1:c.299G>T ENSP00000508330.1:p.Gly100Val
ENST00000683396.1:n.622G>T
ENST00000683410.1:n.622G>T
ENST00000683485.1:n.629G>T
ENST00000683504.1:n.622G>T
ENST00000683533.1:c.-182G>T ENSP00000508296.1:n.-182G>T
ENST00000683609.1:n.629G>T
ENST00000683644.1:c.416G>T ENSP00000507914.1:p.Gly139Val
ENST00000683660.1:n.629G>T
ENST00000683669.1:n.299G>T
ENST00000683690.1:c.416G>T ENSP00000508152.1:p.Gly139Val
ENST00000683719.1:n.399G>T
ENST00000683757.1:n.405G>T
ENST00000683858.1:c.416G>T ENSP00000507657.1:p.Gly139Val
ENST00000683875.1:c.188G>T ENSP00000507602.1:p.Gly63Val
ENST00000683904.1:n.629G>T
ENST00000683910.1:n.629G>T
ENST00000683959.1:c.-182G>T ENSP00000508309.1:n.-182G>T
ENST00000683976.1:c.416G>T ENSP00000507183.1:p.Gly139Val
ENST00000683978.1:n.559G>T
ENST00000683992.1:c.416G>T ENSP00000508144.1:p.Gly139Val
ENST00000684020.1:n.622G>T
ENST00000684044.1:n.629G>T
ENST00000684057.1:n.618G>T
ENST00000684076.1:n.587G>T
ENST00000684128.1:n.622G>T
ENST00000684194.1:n.622G>T
ENST00000684205.1:n.460G>T
ENST00000684246.1:c.416G>T ENSP00000508273.1:p.Gly139Val
ENST00000684402.1:n.622G>T
ENST00000684446.1:n.629G>T
ENST00000684531.1:n.649G>T
ENST00000684635.1:c.416G>T ENSP00000507335.1:p.Gly139Val
ENST00000684640.1:c.299G>T ENSP00000507292.1:p.Gly100Val
ENST00000684673.1:c.416G>T ENSP00000507746.1:p.Gly139Val
ENST00000684684.1:c.416G>T ENSP00000507026.1:p.Gly139Val
ENST00000245157.11:c.416G>T MANE Select ENSP00000245157.5:p.Gly139Val
ENST00000245157.9:c.416G>T ENSP00000245157.5:p.Gly139Val
ENST00000561951.5:n.65G>T
ENST00000565378.1:n.399G>T
ENST00000565781.5:n.430G>T
ENST00000566689.5:n.407G>T
ENST00000568104.5:c.416G>T ENSP00000456289.1:p.Gly139Val
ENST00000569342.5:n.550G>T
ENST00000569941.5:c.-182G>T ENSP00000456741.1:n.-182G>T
NM_031885.3:c.416G>T NP_114091.3:p.Gly139Val
XM_005256080.1:c.416G>T XP_005256137.1:p.Gly139Val
XM_005256081.1:c.416G>T XP_005256138.1:p.Gly139Val
XM_005256082.1:c.416G>T XP_005256139.1:p.Gly139Val
XM_011523251.1:c.416G>T XP_011521553.1:p.Gly139Val
XR_933378.1:n.649G>T
XR_933379.1:n.649G>T
XR_933380.1:n.649G>T
XM_005256080.2:c.416G>T XP_005256137.1:p.Gly139Val
XR_001751958.1:n.649G>T
XR_001751959.2:n.649G>T
XR_001751960.1:n.649G>T
XR_001751961.1:n.649G>T
XR_933380.2:n.649G>T
NM_031885.4:c.416G>T NP_114091.3:p.Gly139Val
NM_001377456.1:c.416G>T NP_001364385.1:p.Gly139Val
NM_031885.5:c.416G>T MANE Select NP_114091.4:p.Gly139Val
NR_165293.1:n.578G>T
NR_165294.1:n.578G>T
NR_165295.1:n.578G>T
NR_165296.1:n.578G>T
NR_165297.1:n.578G>T
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