Canonical Allele Identifier: CA495584006

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56485717A>G , CM000678.2:g.56485717A>G	GRCh38
NC_000016.9:g.56519629A>G , CM000678.1:g.56519629A>G	GRCh37
NC_000016.8:g.55077130A>G	NCBI36
NG_009312.1:g.39567T>C
NG_009312.2:g.39308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561877.2:c.1919T>C	ENSP00000454986.2:n.1919T>C
ENST00000562813.2:n.3419T>C
ENST00000564123.7:n.777T>C
ENST00000564459.6:n.659T>C
ENST00000565781.6:n.5463T>C
ENST00000565859.2:n.3006T>C
ENST00000566210.2:n.2361T>C
ENST00000566410.2:n.5446T>C
ENST00000566452.2:n.3055T>C
ENST00000568104.6:c.1794T>C	ENSP00000456289.1:p.Tyr598=
ENST00000569192.6:n.1037T>C
ENST00000618027.2:n.711T>C
ENST00000682000.1:n.1490T>C
ENST00000682001.1:n.2961T>C
ENST00000682038.1:c.*1321T>C	ENSP00000508404.1:n.*1321T>C
ENST00000682047.1:c.1932T>C	ENSP00000507699.1:p.Tyr644=
ENST00000682088.1:c.*4873T>C	ENSP00000508064.1:n.*4873T>C
ENST00000682096.1:n.4382T>C
ENST00000682113.1:n.4149T>C
ENST00000682146.1:n.3089T>C
ENST00000682187.1:c.*1356T>C	ENSP00000507203.1:n.*1356T>C
ENST00000682188.1:c.1977T>C	ENSP00000507655.1:p.Tyr659=
ENST00000682201.1:n.1923T>C
ENST00000682205.1:c.1932T>C	ENSP00000508377.1:p.Tyr644=
ENST00000682348.1:c.*981T>C	ENSP00000506965.1:n.*981T>C
ENST00000682360.1:c.1335T>C	ENSP00000508007.1:p.Tyr445=
ENST00000682370.1:n.3298T>C
ENST00000682420.1:n.2479T>C
ENST00000682429.1:c.*601T>C	ENSP00000506827.1:n.*601T>C
ENST00000682449.1:c.*683T>C	ENSP00000507836.1:n.*683T>C
ENST00000682470.1:c.1932T>C	ENSP00000507654.1:p.Tyr644=
ENST00000682473.1:n.1897T>C
ENST00000682482.1:c.1806T>C	ENSP00000507903.1:p.Tyr602=
ENST00000682492.1:n.2020T>C
ENST00000682493.1:c.*527T>C	ENSP00000506778.1:n.*527T>C
ENST00000682543.1:c.*1356T>C	ENSP00000507592.1:n.*1356T>C
ENST00000682597.1:n.4119T>C
ENST00000682658.1:c.*964T>C	ENSP00000507773.1:n.*964T>C
ENST00000682705.1:n.3001T>C
ENST00000682723.1:c.*11T>C	ENSP00000507115.1:n.*11T>C
ENST00000682735.1:c.*3600T>C	ENSP00000507007.1:n.*3600T>C
ENST00000682737.1:c.1335T>C	ENSP00000506876.1:p.Tyr445=
ENST00000682757.1:n.3625T>C
ENST00000682855.1:c.1932T>C	ENSP00000507027.1:p.Tyr644=
ENST00000682875.1:c.*11T>C	ENSP00000507771.1:n.*11T>C
ENST00000682930.1:c.1857T>C	ENSP00000507981.1:p.Tyr619=
ENST00000682948.1:n.2964T>C
ENST00000682960.1:n.4173T>C
ENST00000683008.1:n.5387T>C
ENST00000683020.1:c.*473T>C	ENSP00000507944.1:n.*473T>C
ENST00000683099.1:n.3961T>C
ENST00000683170.1:n.3657T>C
ENST00000683212.1:c.*473T>C	ENSP00000507839.1:n.*473T>C
ENST00000683248.1:n.3890T>C
ENST00000683343.1:n.2786T>C
ENST00000683347.1:n.2139T>C
ENST00000683384.1:c.1953T>C	ENSP00000508330.1:n.1953T>C
ENST00000683396.1:n.4709T>C
ENST00000683410.1:n.2413T>C
ENST00000683443.1:n.1566T>C
ENST00000683485.1:n.4500T>C
ENST00000683504.1:n.7523T>C
ENST00000683533.1:c.*1356T>C	ENSP00000508296.1:n.*1356T>C
ENST00000683609.1:n.4001T>C
ENST00000683644.1:c.*1106T>C	ENSP00000507914.1:n.*1106T>C
ENST00000683690.1:c.*3384T>C	ENSP00000508152.1:n.*3384T>C
ENST00000683757.1:n.1921T>C
ENST00000683858.1:c.1884T>C	ENSP00000507657.1:p.Tyr628=
ENST00000683875.1:c.1704T>C	ENSP00000507602.1:p.Tyr568=
ENST00000683904.1:n.4237T>C
ENST00000683910.1:n.4627T>C
ENST00000683959.1:c.*981T>C	ENSP00000508309.1:n.*981T>C
ENST00000683976.1:c.*1481T>C	ENSP00000507183.1:n.*1481T>C
ENST00000683978.1:n.2075T>C
ENST00000683992.1:c.*1572T>C	ENSP00000508144.1:n.*1572T>C
ENST00000684020.1:n.2354T>C
ENST00000684044.1:n.2920T>C
ENST00000684057.1:n.2850T>C
ENST00000684076.1:n.3312T>C
ENST00000684128.1:n.3500T>C
ENST00000684194.1:n.3563T>C
ENST00000684205.1:n.3611T>C
ENST00000684246.1:c.*1572T>C	ENSP00000508273.1:n.*1572T>C
ENST00000684388.1:c.852T>C	ENSP00000507647.1:p.Tyr284=
ENST00000684402.1:n.3173T>C
ENST00000684446.1:n.3416T>C
ENST00000684531.1:n.3374T>C
ENST00000684635.1:c.1827T>C	ENSP00000507335.1:p.Tyr609=
ENST00000684640.1:c.1894T>C	ENSP00000507292.1:n.1894T>C
ENST00000684673.1:c.*527T>C	ENSP00000507746.1:n.*527T>C
ENST00000684684.1:c.*1184T>C	ENSP00000507026.1:n.*1184T>C
ENST00000245157.11:c.1932T>C MANE Select	ENSP00000245157.5:p.Tyr644=
ENST00000245157.9:c.1932T>C	ENSP00000245157.5:p.Tyr644=
ENST00000562813.1:n.3419T>C
ENST00000564123.6:c.22T>C
ENST00000564459.5:c.195T>C	ENSP00000463731.1:p.Tyr65=
ENST00000565781.5:n.5463T>C
ENST00000568104.5:c.1794T>C	ENSP00000456289.1:p.Tyr598=
ENST00000569192.5:n.606T>C
NM_031885.3:c.1932T>C	NP_114091.3:p.Tyr644=
XM_005256080.1:c.1932T>C	XP_005256137.1:p.Tyr644=
XR_933378.1:n.1993T>C
XM_005256080.2:c.1932T>C	XP_005256137.1:p.Tyr644=
XR_001751958.1:n.2293T>C
XR_001751959.2:n.2290T>C
XR_001751960.1:n.1993T>C
XR_001751961.1:n.1993T>C
XR_933380.2:n.2121T>C
NM_031885.4:c.1932T>C	NP_114091.3:p.Tyr644=
NM_001377456.1:c.1932T>C	NP_001364385.1:p.Tyr644=
NM_031885.5:c.1932T>C MANE Select	NP_114091.4:p.Tyr644=
NR_165293.1:n.2222T>C
NR_165294.1:n.2219T>C
NR_165295.1:n.2050T>C
NR_165296.1:n.1922T>C
NR_165297.1:n.1922T>C