Canonical Allele Identifier: CA395975860

Gene: BBS2

Linked Data

• MyVariant Identifiers: chr16:g.56531695A>C (hg19) ; chr16:g.56497783A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56497783A>C , CM000678.2:g.56497783A>C	GRCh38
NC_000016.9:g.56531695A>C , CM000678.1:g.56531695A>C	GRCh37
NC_000016.8:g.55089196A>C	NCBI36
NG_009312.1:g.27501T>G
NG_009312.2:g.27242T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561877.2:c.1744T>G	ENSP00000454986.2:n.1744T>G
ENST00000562813.2:n.2581T>G
ENST00000564459.6:n.484T>G
ENST00000565781.6:n.5288T>G
ENST00000565859.2:n.2831T>G
ENST00000566210.2:n.2186T>G
ENST00000566410.2:n.5271T>G
ENST00000566452.2:n.2217T>G
ENST00000566495.2:n.726T>G
ENST00000568104.6:c.1659+654T>G	ENSP00000456289.1:n.1659+654T>G
ENST00000569192.6:n.862T>G
ENST00000618027.2:n.536T>G
ENST00000682000.1:n.1315T>G
ENST00000682001.1:n.2786T>G
ENST00000682005.1:n.1748T>G
ENST00000682038.1:c.*1146T>G	ENSP00000508404.1:n.*1146T>G
ENST00000682047.1:c.1757T>G	ENSP00000507699.1:p.Phe586Cys
ENST00000682088.1:c.*4698T>G	ENSP00000508064.1:n.*4698T>G
ENST00000682096.1:n.4207T>G
ENST00000682113.1:n.3974T>G
ENST00000682146.1:n.2914T>G
ENST00000682187.1:c.*1181T>G	ENSP00000507203.1:n.*1181T>G
ENST00000682188.1:c.1757T>G	ENSP00000507655.1:p.Phe586Cys
ENST00000682201.1:n.1748T>G
ENST00000682205.1:c.1757T>G	ENSP00000508377.1:p.Phe586Cys
ENST00000682348.1:c.*806T>G	ENSP00000506965.1:n.*806T>G
ENST00000682360.1:c.1160T>G	ENSP00000508007.1:p.Phe387Cys
ENST00000682370.1:n.3123T>G
ENST00000682420.1:n.2304T>G
ENST00000682429.1:c.*426T>G	ENSP00000506827.1:n.*426T>G
ENST00000682449.1:c.*508T>G	ENSP00000507836.1:n.*508T>G
ENST00000682470.1:c.1757T>G	ENSP00000507654.1:p.Phe586Cys
ENST00000682473.1:n.1722T>G
ENST00000682482.1:c.1631T>G	ENSP00000507903.1:p.Phe544Cys
ENST00000682492.1:n.1845T>G
ENST00000682493.1:c.*352T>G	ENSP00000506778.1:n.*352T>G
ENST00000682543.1:c.*1181T>G	ENSP00000507592.1:n.*1181T>G
ENST00000682597.1:n.3944T>G
ENST00000682623.1:n.358T>G
ENST00000682658.1:c.*789T>G	ENSP00000507773.1:n.*789T>G
ENST00000682705.1:n.2826T>G
ENST00000682723.1:c.1160T>G	ENSP00000507115.1:p.Phe387Cys
ENST00000682735.1:c.*3425T>G	ENSP00000507007.1:n.*3425T>G
ENST00000682737.1:c.1160T>G	ENSP00000506876.1:p.Phe387Cys
ENST00000682757.1:n.3450T>G
ENST00000682855.1:c.1757T>G	ENSP00000507027.1:p.Phe586Cys
ENST00000682875.1:c.1757T>G	ENSP00000507771.1:p.Phe586Cys
ENST00000682930.1:c.1682T>G	ENSP00000507981.1:p.Phe561Cys
ENST00000682948.1:n.2789T>G
ENST00000682960.1:n.3998T>G
ENST00000683008.1:n.5153T>G
ENST00000683020.1:c.*298T>G	ENSP00000507944.1:n.*298T>G
ENST00000683099.1:n.3123T>G
ENST00000683170.1:n.3482T>G
ENST00000683212.1:c.*298T>G	ENSP00000507839.1:n.*298T>G
ENST00000683248.1:n.3715T>G
ENST00000683343.1:n.2611T>G
ENST00000683347.1:n.1964T>G
ENST00000683384.1:c.1778T>G	ENSP00000508330.1:n.1778T>G
ENST00000683396.1:n.4534T>G
ENST00000683410.1:n.2179T>G
ENST00000683443.1:n.1391T>G
ENST00000683485.1:n.4325T>G
ENST00000683504.1:n.7348T>G
ENST00000683533.1:c.*1181T>G	ENSP00000508296.1:n.*1181T>G
ENST00000683609.1:n.3826T>G
ENST00000683644.1:c.*931T>G	ENSP00000507914.1:n.*931T>G
ENST00000683660.1:n.1970T>G
ENST00000683669.1:n.1640T>G
ENST00000683690.1:c.*3209T>G	ENSP00000508152.1:n.*3209T>G
ENST00000683719.1:n.1740T>G
ENST00000683757.1:n.1746T>G
ENST00000683858.1:c.1709T>G	ENSP00000507657.1:p.Phe570Cys
ENST00000683875.1:c.1529T>G	ENSP00000507602.1:p.Phe510Cys
ENST00000683904.1:n.4062T>G
ENST00000683910.1:n.4452T>G
ENST00000683959.1:c.*806T>G	ENSP00000508309.1:n.*806T>G
ENST00000683976.1:c.*1306T>G	ENSP00000507183.1:n.*1306T>G
ENST00000683978.1:n.1900T>G
ENST00000683992.1:c.*1397T>G	ENSP00000508144.1:n.*1397T>G
ENST00000684020.1:n.2179T>G
ENST00000684044.1:n.2745T>G
ENST00000684057.1:n.2675T>G
ENST00000684076.1:n.3137T>G
ENST00000684128.1:n.3325T>G
ENST00000684194.1:n.3388T>G
ENST00000684205.1:n.3436T>G
ENST00000684246.1:c.*1397T>G	ENSP00000508273.1:n.*1397T>G
ENST00000684388.1:c.677T>G	ENSP00000507647.1:p.Phe226Cys
ENST00000684402.1:n.2998T>G
ENST00000684446.1:n.3241T>G
ENST00000684531.1:n.3199T>G
ENST00000684635.1:c.1652T>G	ENSP00000507335.1:p.Phe551Cys
ENST00000684640.1:c.1719T>G	ENSP00000507292.1:n.1719T>G
ENST00000684673.1:c.*352T>G	ENSP00000507746.1:n.*352T>G
ENST00000684684.1:c.*1009T>G	ENSP00000507026.1:n.*1009T>G
ENST00000245157.11:c.1757T>G MANE Select	ENSP00000245157.5:p.Phe586Cys
ENST00000245157.9:c.1757T>G	ENSP00000245157.5:p.Phe586Cys
ENST00000561877.1:c.581T>G
ENST00000562813.1:n.2581T>G
ENST00000564459.5:c.20T>G	ENSP00000463731.1:p.Phe7Cys
ENST00000565781.5:n.5288T>G
ENST00000566495.1:n.726T>G
ENST00000568104.5:c.1659+654T>G	ENSP00000456289.1:n.1659+654T>G
ENST00000569192.5:n.431T>G
NM_031885.3:c.1757T>G	NP_114091.3:p.Phe586Cys
XM_005256080.1:c.1757T>G	XP_005256137.1:p.Phe586Cys
XR_933378.1:n.1818T>G
XM_005256080.2:c.1757T>G	XP_005256137.1:p.Phe586Cys
XR_001751958.1:n.2118T>G
XR_001751959.2:n.2115T>G
XR_001751960.1:n.1818T>G
XR_001751961.1:n.1818T>G
XR_933380.2:n.1946T>G
NM_031885.4:c.1757T>G	NP_114091.3:p.Phe586Cys
NM_001377456.1:c.1757T>G	NP_001364385.1:p.Phe586Cys
NM_031885.5:c.1757T>G MANE Select	NP_114091.4:p.Phe586Cys
NR_165293.1:n.2047T>G
NR_165294.1:n.2044T>G
NR_165295.1:n.1875T>G
NR_165296.1:n.1747T>G
NR_165297.1:n.1747T>G