Canonical Allele Identifier: CA395984510

Gene: BBS2

Linked Data

• dbSNP Id: rs1266818075
• gnomAD v2: 16-56545172-C-T
• MyVariant Identifiers: chr16:g.56545172C>T (hg19) ; chr16:g.56511260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56511260C>T , CM000678.2:g.56511260C>T	GRCh38
NC_000016.9:g.56545172C>T , CM000678.1:g.56545172C>T	GRCh37
NC_000016.8:g.55102673C>T	NCBI36
NG_009312.1:g.14024G>A
NG_009312.2:g.13765G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562012.2:c.*344G>A	ENSP00000455651.2:n.*344G>A
ENST00000562059.2:n.367G>A
ENST00000565378.2:n.253G>A
ENST00000565781.6:n.384G>A
ENST00000565859.2:n.25G>A
ENST00000566410.2:n.583G>A
ENST00000568104.6:c.370G>A	ENSP00000456289.1:p.Val124Met
ENST00000569342.6:n.543G>A
ENST00000569941.6:c.-104G>A	ENSP00000456741.2:n.-104G>A
ENST00000682001.1:n.364G>A
ENST00000682005.1:n.361G>A
ENST00000682021.1:n.380G>A
ENST00000682038.1:c.370G>A	ENSP00000508404.1:p.Val124Met
ENST00000682047.1:c.370G>A	ENSP00000507699.1:p.Val124Met
ENST00000682088.1:c.370G>A	ENSP00000508064.1:p.Val124Met
ENST00000682096.1:n.576G>A
ENST00000682113.1:n.343G>A
ENST00000682146.1:n.583G>A
ENST00000682187.1:c.370G>A	ENSP00000507203.1:p.Val124Met
ENST00000682188.1:c.370G>A	ENSP00000507655.1:p.Val124Met
ENST00000682201.1:n.361G>A
ENST00000682205.1:c.370G>A	ENSP00000508377.1:p.Val124Met
ENST00000682348.1:c.370G>A	ENSP00000506965.1:p.Val124Met
ENST00000682360.1:c.-228G>A	ENSP00000508007.1:n.-228G>A
ENST00000682370.1:n.576G>A
ENST00000682420.1:n.576G>A
ENST00000682429.1:c.370G>A	ENSP00000506827.1:p.Val124Met
ENST00000682449.1:c.370G>A	ENSP00000507836.1:p.Val124Met
ENST00000682470.1:c.370G>A	ENSP00000507654.1:p.Val124Met
ENST00000682473.1:n.335G>A
ENST00000682482.1:c.346-339G>A	ENSP00000507903.1:n.346-339G>A
ENST00000682492.1:n.414G>A
ENST00000682493.1:c.370G>A	ENSP00000506778.1:p.Val124Met
ENST00000682543.1:c.370G>A	ENSP00000507592.1:p.Val124Met
ENST00000682561.1:n.379G>A
ENST00000682597.1:n.576G>A
ENST00000682658.1:c.370G>A	ENSP00000507773.1:p.Val124Met
ENST00000682705.1:n.576G>A
ENST00000682723.1:c.-228G>A	ENSP00000507115.1:n.-228G>A
ENST00000682735.1:c.370G>A	ENSP00000507007.1:p.Val124Met
ENST00000682737.1:c.-228G>A	ENSP00000506876.1:n.-228G>A
ENST00000682757.1:n.576G>A
ENST00000682855.1:c.370G>A	ENSP00000507027.1:p.Val124Met
ENST00000682857.1:n.583G>A
ENST00000682875.1:c.370G>A	ENSP00000507771.1:p.Val124Met
ENST00000682919.1:n.332G>A
ENST00000682930.1:c.295G>A	ENSP00000507981.1:p.Val99Met
ENST00000682948.1:n.583G>A
ENST00000682960.1:n.583G>A
ENST00000683008.1:n.576G>A
ENST00000683020.1:c.370G>A	ENSP00000507944.1:p.Val124Met
ENST00000683099.1:n.576G>A
ENST00000683170.1:n.514G>A
ENST00000683212.1:c.370G>A	ENSP00000507839.1:p.Val124Met
ENST00000683248.1:n.576G>A
ENST00000683343.1:n.361G>A
ENST00000683347.1:n.361G>A
ENST00000683384.1:c.253G>A	ENSP00000508330.1:p.Val85Met
ENST00000683396.1:n.576G>A
ENST00000683410.1:n.576G>A
ENST00000683485.1:n.583G>A
ENST00000683504.1:n.576G>A
ENST00000683533.1:c.-228G>A	ENSP00000508296.1:n.-228G>A
ENST00000683609.1:n.583G>A
ENST00000683644.1:c.370G>A	ENSP00000507914.1:p.Val124Met
ENST00000683660.1:n.583G>A
ENST00000683669.1:n.253G>A
ENST00000683690.1:c.370G>A	ENSP00000508152.1:p.Val124Met
ENST00000683719.1:n.353G>A
ENST00000683757.1:n.359G>A
ENST00000683858.1:c.370G>A	ENSP00000507657.1:p.Val124Met
ENST00000683875.1:c.142G>A	ENSP00000507602.1:p.Val48Met
ENST00000683904.1:n.583G>A
ENST00000683910.1:n.583G>A
ENST00000683959.1:c.-228G>A	ENSP00000508309.1:n.-228G>A
ENST00000683976.1:c.370G>A	ENSP00000507183.1:p.Val124Met
ENST00000683978.1:n.513G>A
ENST00000683992.1:c.370G>A	ENSP00000508144.1:p.Val124Met
ENST00000684020.1:n.576G>A
ENST00000684044.1:n.583G>A
ENST00000684057.1:n.572G>A
ENST00000684076.1:n.541G>A
ENST00000684128.1:n.576G>A
ENST00000684194.1:n.576G>A
ENST00000684205.1:n.414G>A
ENST00000684246.1:c.370G>A	ENSP00000508273.1:p.Val124Met
ENST00000684402.1:n.576G>A
ENST00000684446.1:n.583G>A
ENST00000684531.1:n.603G>A
ENST00000684635.1:c.370G>A	ENSP00000507335.1:p.Val124Met
ENST00000684640.1:c.253G>A	ENSP00000507292.1:p.Val85Met
ENST00000684673.1:c.370G>A	ENSP00000507746.1:p.Val124Met
ENST00000684684.1:c.370G>A	ENSP00000507026.1:p.Val124Met
ENST00000245157.11:c.370G>A MANE Select	ENSP00000245157.5:p.Val124Met
ENST00000245157.9:c.370G>A	ENSP00000245157.5:p.Val124Met
ENST00000561951.5:n.19G>A
ENST00000565378.1:n.353G>A
ENST00000565781.5:n.384G>A
ENST00000566689.5:n.361G>A
ENST00000568104.5:c.370G>A	ENSP00000456289.1:p.Val124Met
ENST00000569342.5:n.504G>A
ENST00000569941.5:c.-228G>A	ENSP00000456741.1:n.-228G>A
NM_031885.3:c.370G>A	NP_114091.3:p.Val124Met
XM_005256080.1:c.370G>A	XP_005256137.1:p.Val124Met
XM_005256081.1:c.370G>A	XP_005256138.1:p.Val124Met
XM_005256082.1:c.370G>A	XP_005256139.1:p.Val124Met
XM_011523251.1:c.370G>A	XP_011521553.1:p.Val124Met
XR_933378.1:n.603G>A
XR_933379.1:n.603G>A
XR_933380.1:n.603G>A
XM_005256080.2:c.370G>A	XP_005256137.1:p.Val124Met
XR_001751958.1:n.603G>A
XR_001751959.2:n.603G>A
XR_001751960.1:n.603G>A
XR_001751961.1:n.603G>A
XR_933380.2:n.603G>A
NM_031885.4:c.370G>A	NP_114091.3:p.Val124Met
NM_001377456.1:c.370G>A	NP_001364385.1:p.Val124Met
NM_031885.5:c.370G>A MANE Select	NP_114091.4:p.Val124Met
NR_165293.1:n.532G>A
NR_165294.1:n.532G>A
NR_165295.1:n.532G>A
NR_165296.1:n.532G>A
NR_165297.1:n.532G>A