Canonical Allele Identifier: CA8065514

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56484783C>T , CM000678.2:g.56484783C>T	GRCh38
NC_000016.9:g.56518695C>T , CM000678.1:g.56518695C>T	GRCh37
NC_000016.8:g.55076196C>T	NCBI36
NG_009312.1:g.40501G>A
NG_009312.2:g.40242G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031885.5:c.2144G>A MANE Select	NP_114091.4:p.Arg715Gln
ENST00000245157.11:c.2144G>A MANE Select	ENSP00000245157.5:p.Arg715Gln
NM_001377456.1:c.2144G>A	NP_001364385.1:p.Arg715Gln
NM_031885.3:c.2144G>A	NP_114091.3:p.Arg715Gln
NM_031885.4:c.2144G>A	NP_114091.3:p.Arg715Gln
NR_165293.1:n.2434G>A
NR_165294.1:n.2431G>A
NR_165295.1:n.2262G>A
NR_165296.1:n.2134G>A
NR_165297.1:n.2134G>A
ENST00000245157.9:c.2144G>A	ENSP00000245157.5:p.Arg715Gln
ENST00000561877.2:c.2131G>A	ENSP00000454986.2:n.2131G>A
ENST00000562813.1:n.3631G>A
ENST00000562813.2:n.3631G>A
ENST00000564123.6:c.234G>A
ENST00000564123.7:n.989G>A
ENST00000564459.5:c.407G>A	ENSP00000463731.1:p.Arg136Gln
ENST00000564459.6:n.871G>A
ENST00000565781.5:n.5675G>A
ENST00000565781.6:n.5675G>A
ENST00000565859.2:n.3218G>A
ENST00000566210.2:n.2573G>A
ENST00000566410.2:n.5658G>A
ENST00000566452.2:n.3267G>A
ENST00000568104.5:c.2006G>A	ENSP00000456289.1:p.Arg669Gln
ENST00000568104.6:c.2006G>A	ENSP00000456289.1:p.Arg669Gln
ENST00000569192.6:n.1249G>A
ENST00000618027.2:n.923G>A
ENST00000682000.1:n.1702G>A
ENST00000682001.1:n.3173G>A
ENST00000682038.1:c.*1533G>A	ENSP00000508404.1:n.*1533G>A
ENST00000682047.1:c.2144G>A	ENSP00000507699.1:p.Arg715Gln
ENST00000682088.1:c.*5085G>A	ENSP00000508064.1:n.*5085G>A
ENST00000682096.1:n.4594G>A
ENST00000682113.1:n.4361G>A
ENST00000682146.1:n.3301G>A
ENST00000682187.1:c.*1568G>A	ENSP00000507203.1:n.*1568G>A
ENST00000682188.1:c.2189G>A	ENSP00000507655.1:p.Arg730Gln
ENST00000682201.1:n.2135G>A
ENST00000682205.1:c.2144G>A	ENSP00000508377.1:p.Arg715Gln
ENST00000682348.1:c.*1193G>A	ENSP00000506965.1:n.*1193G>A
ENST00000682360.1:c.1547G>A	ENSP00000508007.1:p.Arg516Gln
ENST00000682370.1:n.3510G>A
ENST00000682420.1:n.2691G>A
ENST00000682429.1:c.*813G>A	ENSP00000506827.1:n.*813G>A
ENST00000682449.1:c.*895G>A	ENSP00000507836.1:n.*895G>A
ENST00000682470.1:c.2144G>A	ENSP00000507654.1:p.Arg715Gln
ENST00000682473.1:n.2109G>A
ENST00000682482.1:c.2018G>A	ENSP00000507903.1:p.Arg673Gln
ENST00000682492.1:n.2232G>A
ENST00000682493.1:c.*739G>A	ENSP00000506778.1:n.*739G>A
ENST00000682543.1:c.*1568G>A	ENSP00000507592.1:n.*1568G>A
ENST00000682597.1:n.4331G>A
ENST00000682658.1:c.*1176G>A	ENSP00000507773.1:n.*1176G>A
ENST00000682705.1:n.3213G>A
ENST00000682723.1:c.*223G>A	ENSP00000507115.1:n.*223G>A
ENST00000682735.1:c.*3812G>A	ENSP00000507007.1:n.*3812G>A
ENST00000682737.1:c.1547G>A	ENSP00000506876.1:p.Arg516Gln
ENST00000682757.1:n.3837G>A
ENST00000682855.1:c.2144G>A	ENSP00000507027.1:p.Arg715Gln
ENST00000682875.1:c.*223G>A	ENSP00000507771.1:n.*223G>A
ENST00000682930.1:c.2069G>A	ENSP00000507981.1:p.Arg690Gln
ENST00000682948.1:n.3176G>A
ENST00000682960.1:n.4385G>A
ENST00000683008.1:n.5599G>A
ENST00000683020.1:c.*685G>A	ENSP00000507944.1:n.*685G>A
ENST00000683099.1:n.4173G>A
ENST00000683170.1:n.3869G>A
ENST00000683212.1:c.*685G>A	ENSP00000507839.1:n.*685G>A
ENST00000683248.1:n.4102G>A
ENST00000683343.1:n.2998G>A
ENST00000683347.1:n.2351G>A
ENST00000683384.1:c.2165G>A	ENSP00000508330.1:n.2165G>A
ENST00000683396.1:n.4921G>A
ENST00000683410.1:n.2625G>A
ENST00000683443.1:n.1778G>A
ENST00000683485.1:n.4712G>A
ENST00000683504.1:n.7735G>A
ENST00000683533.1:c.*1568G>A	ENSP00000508296.1:n.*1568G>A
ENST00000683609.1:n.4213G>A
ENST00000683644.1:c.*1318G>A	ENSP00000507914.1:n.*1318G>A
ENST00000683690.1:c.*3596G>A	ENSP00000508152.1:n.*3596G>A
ENST00000683757.1:n.2133G>A
ENST00000683858.1:c.2096G>A	ENSP00000507657.1:p.Arg699Gln
ENST00000683875.1:c.1916G>A	ENSP00000507602.1:p.Arg639Gln
ENST00000683904.1:n.4449G>A
ENST00000683910.1:n.4839G>A
ENST00000683959.1:c.*1193G>A	ENSP00000508309.1:n.*1193G>A
ENST00000683976.1:c.*1693G>A	ENSP00000507183.1:n.*1693G>A
ENST00000683978.1:n.2287G>A
ENST00000683992.1:c.*1784G>A	ENSP00000508144.1:n.*1784G>A
ENST00000684020.1:n.2566G>A
ENST00000684044.1:n.3132G>A
ENST00000684057.1:n.3062G>A
ENST00000684076.1:n.3524G>A
ENST00000684128.1:n.3712G>A
ENST00000684194.1:n.3775G>A
ENST00000684205.1:n.3823G>A
ENST00000684246.1:c.*1784G>A	ENSP00000508273.1:n.*1784G>A
ENST00000684388.1:c.1064G>A	ENSP00000507647.1:p.Arg355Gln
ENST00000684402.1:n.3385G>A
ENST00000684446.1:n.3628G>A
ENST00000684531.1:n.3586G>A
ENST00000684635.1:c.2039G>A	ENSP00000507335.1:p.Arg680Gln
ENST00000684640.1:c.2106G>A	ENSP00000507292.1:n.2106G>A
ENST00000684673.1:c.*739G>A	ENSP00000507746.1:n.*739G>A
XM_005256080.1:c.2144G>A	XP_005256137.1:p.Arg715Gln
XM_005256080.2:c.2144G>A	XP_005256137.1:p.Arg715Gln
XR_001751958.1:n.2505G>A
XR_001751959.2:n.2502G>A
XR_001751960.1:n.2205G>A
XR_001751961.1:n.2205G>A
XR_933380.2:n.2333G>A