Canonical Allele Identifier: CA395975870

Gene: BBS2

Linked Data

• MyVariant Identifiers: chr16:g.56531698T>C (hg19) ; chr16:g.56497786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56497786T>C , CM000678.2:g.56497786T>C	GRCh38
NC_000016.9:g.56531698T>C , CM000678.1:g.56531698T>C	GRCh37
NC_000016.8:g.55089199T>C	NCBI36
NG_009312.1:g.27498A>G
NG_009312.2:g.27239A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561877.2:c.1741A>G	ENSP00000454986.2:n.1741A>G
ENST00000562813.2:n.2578A>G
ENST00000564459.6:n.481A>G
ENST00000565781.6:n.5285A>G
ENST00000565859.2:n.2828A>G
ENST00000566210.2:n.2183A>G
ENST00000566410.2:n.5268A>G
ENST00000566452.2:n.2214A>G
ENST00000566495.2:n.723A>G
ENST00000568104.6:c.1659+651A>G	ENSP00000456289.1:n.1659+651A>G
ENST00000569192.6:n.859A>G
ENST00000618027.2:n.533A>G
ENST00000682000.1:n.1312A>G
ENST00000682001.1:n.2783A>G
ENST00000682005.1:n.1745A>G
ENST00000682038.1:c.*1143A>G	ENSP00000508404.1:n.*1143A>G
ENST00000682047.1:c.1754A>G	ENSP00000507699.1:p.Asp585Gly
ENST00000682088.1:c.*4695A>G	ENSP00000508064.1:n.*4695A>G
ENST00000682096.1:n.4204A>G
ENST00000682113.1:n.3971A>G
ENST00000682146.1:n.2911A>G
ENST00000682187.1:c.*1178A>G	ENSP00000507203.1:n.*1178A>G
ENST00000682188.1:c.1754A>G	ENSP00000507655.1:p.Asp585Gly
ENST00000682201.1:n.1745A>G
ENST00000682205.1:c.1754A>G	ENSP00000508377.1:p.Asp585Gly
ENST00000682348.1:c.*803A>G	ENSP00000506965.1:n.*803A>G
ENST00000682360.1:c.1157A>G	ENSP00000508007.1:p.Asp386Gly
ENST00000682370.1:n.3120A>G
ENST00000682420.1:n.2301A>G
ENST00000682429.1:c.*423A>G	ENSP00000506827.1:n.*423A>G
ENST00000682449.1:c.*505A>G	ENSP00000507836.1:n.*505A>G
ENST00000682470.1:c.1754A>G	ENSP00000507654.1:p.Asp585Gly
ENST00000682473.1:n.1719A>G
ENST00000682482.1:c.1628A>G	ENSP00000507903.1:p.Asp543Gly
ENST00000682492.1:n.1842A>G
ENST00000682493.1:c.*349A>G	ENSP00000506778.1:n.*349A>G
ENST00000682543.1:c.*1178A>G	ENSP00000507592.1:n.*1178A>G
ENST00000682597.1:n.3941A>G
ENST00000682623.1:n.355A>G
ENST00000682658.1:c.*786A>G	ENSP00000507773.1:n.*786A>G
ENST00000682705.1:n.2823A>G
ENST00000682723.1:c.1157A>G	ENSP00000507115.1:p.Asp386Gly
ENST00000682735.1:c.*3422A>G	ENSP00000507007.1:n.*3422A>G
ENST00000682737.1:c.1157A>G	ENSP00000506876.1:p.Asp386Gly
ENST00000682757.1:n.3447A>G
ENST00000682855.1:c.1754A>G	ENSP00000507027.1:p.Asp585Gly
ENST00000682875.1:c.1754A>G	ENSP00000507771.1:p.Asp585Gly
ENST00000682930.1:c.1679A>G	ENSP00000507981.1:p.Asp560Gly
ENST00000682948.1:n.2786A>G
ENST00000682960.1:n.3995A>G
ENST00000683008.1:n.5150A>G
ENST00000683020.1:c.*295A>G	ENSP00000507944.1:n.*295A>G
ENST00000683099.1:n.3120A>G
ENST00000683170.1:n.3479A>G
ENST00000683212.1:c.*295A>G	ENSP00000507839.1:n.*295A>G
ENST00000683248.1:n.3712A>G
ENST00000683343.1:n.2608A>G
ENST00000683347.1:n.1961A>G
ENST00000683384.1:c.1775A>G	ENSP00000508330.1:n.1775A>G
ENST00000683396.1:n.4531A>G
ENST00000683410.1:n.2176A>G
ENST00000683443.1:n.1388A>G
ENST00000683485.1:n.4322A>G
ENST00000683504.1:n.7345A>G
ENST00000683533.1:c.*1178A>G	ENSP00000508296.1:n.*1178A>G
ENST00000683609.1:n.3823A>G
ENST00000683644.1:c.*928A>G	ENSP00000507914.1:n.*928A>G
ENST00000683660.1:n.1967A>G
ENST00000683669.1:n.1637A>G
ENST00000683690.1:c.*3206A>G	ENSP00000508152.1:n.*3206A>G
ENST00000683719.1:n.1737A>G
ENST00000683757.1:n.1743A>G
ENST00000683858.1:c.1706A>G	ENSP00000507657.1:p.Asp569Gly
ENST00000683875.1:c.1526A>G	ENSP00000507602.1:p.Asp509Gly
ENST00000683904.1:n.4059A>G
ENST00000683910.1:n.4449A>G
ENST00000683959.1:c.*803A>G	ENSP00000508309.1:n.*803A>G
ENST00000683976.1:c.*1303A>G	ENSP00000507183.1:n.*1303A>G
ENST00000683978.1:n.1897A>G
ENST00000683992.1:c.*1394A>G	ENSP00000508144.1:n.*1394A>G
ENST00000684020.1:n.2176A>G
ENST00000684044.1:n.2742A>G
ENST00000684057.1:n.2672A>G
ENST00000684076.1:n.3134A>G
ENST00000684128.1:n.3322A>G
ENST00000684194.1:n.3385A>G
ENST00000684205.1:n.3433A>G
ENST00000684246.1:c.*1394A>G	ENSP00000508273.1:n.*1394A>G
ENST00000684388.1:c.674A>G	ENSP00000507647.1:p.Asp225Gly
ENST00000684402.1:n.2995A>G
ENST00000684446.1:n.3238A>G
ENST00000684531.1:n.3196A>G
ENST00000684635.1:c.1649A>G	ENSP00000507335.1:p.Asp550Gly
ENST00000684640.1:c.1716A>G	ENSP00000507292.1:n.1716A>G
ENST00000684673.1:c.*349A>G	ENSP00000507746.1:n.*349A>G
ENST00000684684.1:c.*1006A>G	ENSP00000507026.1:n.*1006A>G
ENST00000245157.11:c.1754A>G MANE Select	ENSP00000245157.5:p.Asp585Gly
ENST00000245157.9:c.1754A>G	ENSP00000245157.5:p.Asp585Gly
ENST00000561877.1:c.578A>G
ENST00000562813.1:n.2578A>G
ENST00000564459.5:c.17A>G	ENSP00000463731.1:p.Asp6Gly
ENST00000565781.5:n.5285A>G
ENST00000566495.1:n.723A>G
ENST00000568104.5:c.1659+651A>G	ENSP00000456289.1:n.1659+651A>G
ENST00000569192.5:n.428A>G
NM_031885.3:c.1754A>G	NP_114091.3:p.Asp585Gly
XM_005256080.1:c.1754A>G	XP_005256137.1:p.Asp585Gly
XR_933378.1:n.1815A>G
XM_005256080.2:c.1754A>G	XP_005256137.1:p.Asp585Gly
XR_001751958.1:n.2115A>G
XR_001751959.2:n.2112A>G
XR_001751960.1:n.1815A>G
XR_001751961.1:n.1815A>G
XR_933380.2:n.1943A>G
NM_031885.4:c.1754A>G	NP_114091.3:p.Asp585Gly
NM_001377456.1:c.1754A>G	NP_001364385.1:p.Asp585Gly
NM_031885.5:c.1754A>G MANE Select	NP_114091.4:p.Asp585Gly
NR_165293.1:n.2044A>G
NR_165294.1:n.2041A>G
NR_165295.1:n.1872A>G
NR_165296.1:n.1744A>G
NR_165297.1:n.1744A>G