Canonical Allele Identifier: CA8065575

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56485715A>G , CM000678.2:g.56485715A>G	GRCh38
NC_000016.9:g.56519627A>G , CM000678.1:g.56519627A>G	GRCh37
NC_000016.8:g.55077128A>G	NCBI36
NG_009312.1:g.39569T>C
NG_009312.2:g.39310T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561877.2:c.1921T>C	ENSP00000454986.2:n.1921T>C
ENST00000562813.2:n.3421T>C
ENST00000564123.7:n.779T>C
ENST00000564459.6:n.661T>C
ENST00000565781.6:n.5465T>C
ENST00000565859.2:n.3008T>C
ENST00000566210.2:n.2363T>C
ENST00000566410.2:n.5448T>C
ENST00000566452.2:n.3057T>C
ENST00000568104.6:c.1796T>C	ENSP00000456289.1:p.Met599Thr
ENST00000569192.6:n.1039T>C
ENST00000618027.2:n.713T>C
ENST00000682000.1:n.1492T>C
ENST00000682001.1:n.2963T>C
ENST00000682038.1:c.*1323T>C	ENSP00000508404.1:n.*1323T>C
ENST00000682047.1:c.1934T>C	ENSP00000507699.1:p.Met645Thr
ENST00000682088.1:c.*4875T>C	ENSP00000508064.1:n.*4875T>C
ENST00000682096.1:n.4384T>C
ENST00000682113.1:n.4151T>C
ENST00000682146.1:n.3091T>C
ENST00000682187.1:c.*1358T>C	ENSP00000507203.1:n.*1358T>C
ENST00000682188.1:c.1979T>C	ENSP00000507655.1:p.Met660Thr
ENST00000682201.1:n.1925T>C
ENST00000682205.1:c.1934T>C	ENSP00000508377.1:p.Met645Thr
ENST00000682348.1:c.*983T>C	ENSP00000506965.1:n.*983T>C
ENST00000682360.1:c.1337T>C	ENSP00000508007.1:p.Met446Thr
ENST00000682370.1:n.3300T>C
ENST00000682420.1:n.2481T>C
ENST00000682429.1:c.*603T>C	ENSP00000506827.1:n.*603T>C
ENST00000682449.1:c.*685T>C	ENSP00000507836.1:n.*685T>C
ENST00000682470.1:c.1934T>C	ENSP00000507654.1:p.Met645Thr
ENST00000682473.1:n.1899T>C
ENST00000682482.1:c.1808T>C	ENSP00000507903.1:p.Met603Thr
ENST00000682492.1:n.2022T>C
ENST00000682493.1:c.*529T>C	ENSP00000506778.1:n.*529T>C
ENST00000682543.1:c.*1358T>C	ENSP00000507592.1:n.*1358T>C
ENST00000682597.1:n.4121T>C
ENST00000682658.1:c.*966T>C	ENSP00000507773.1:n.*966T>C
ENST00000682705.1:n.3003T>C
ENST00000682723.1:c.*13T>C	ENSP00000507115.1:n.*13T>C
ENST00000682735.1:c.*3602T>C	ENSP00000507007.1:n.*3602T>C
ENST00000682737.1:c.1337T>C	ENSP00000506876.1:p.Met446Thr
ENST00000682757.1:n.3627T>C
ENST00000682855.1:c.1934T>C	ENSP00000507027.1:p.Met645Thr
ENST00000682875.1:c.*13T>C	ENSP00000507771.1:n.*13T>C
ENST00000682930.1:c.1859T>C	ENSP00000507981.1:p.Met620Thr
ENST00000682948.1:n.2966T>C
ENST00000682960.1:n.4175T>C
ENST00000683008.1:n.5389T>C
ENST00000683020.1:c.*475T>C	ENSP00000507944.1:n.*475T>C
ENST00000683099.1:n.3963T>C
ENST00000683170.1:n.3659T>C
ENST00000683212.1:c.*475T>C	ENSP00000507839.1:n.*475T>C
ENST00000683248.1:n.3892T>C
ENST00000683343.1:n.2788T>C
ENST00000683347.1:n.2141T>C
ENST00000683384.1:c.1955T>C	ENSP00000508330.1:n.1955T>C
ENST00000683396.1:n.4711T>C
ENST00000683410.1:n.2415T>C
ENST00000683443.1:n.1568T>C
ENST00000683485.1:n.4502T>C
ENST00000683504.1:n.7525T>C
ENST00000683533.1:c.*1358T>C	ENSP00000508296.1:n.*1358T>C
ENST00000683609.1:n.4003T>C
ENST00000683644.1:c.*1108T>C	ENSP00000507914.1:n.*1108T>C
ENST00000683690.1:c.*3386T>C	ENSP00000508152.1:n.*3386T>C
ENST00000683757.1:n.1923T>C
ENST00000683858.1:c.1886T>C	ENSP00000507657.1:p.Met629Thr
ENST00000683875.1:c.1706T>C	ENSP00000507602.1:p.Met569Thr
ENST00000683904.1:n.4239T>C
ENST00000683910.1:n.4629T>C
ENST00000683959.1:c.*983T>C	ENSP00000508309.1:n.*983T>C
ENST00000683976.1:c.*1483T>C	ENSP00000507183.1:n.*1483T>C
ENST00000683978.1:n.2077T>C
ENST00000683992.1:c.*1574T>C	ENSP00000508144.1:n.*1574T>C
ENST00000684020.1:n.2356T>C
ENST00000684044.1:n.2922T>C
ENST00000684057.1:n.2852T>C
ENST00000684076.1:n.3314T>C
ENST00000684128.1:n.3502T>C
ENST00000684194.1:n.3565T>C
ENST00000684205.1:n.3613T>C
ENST00000684246.1:c.*1574T>C	ENSP00000508273.1:n.*1574T>C
ENST00000684388.1:c.854T>C	ENSP00000507647.1:p.Met285Thr
ENST00000684402.1:n.3175T>C
ENST00000684446.1:n.3418T>C
ENST00000684531.1:n.3376T>C
ENST00000684635.1:c.1829T>C	ENSP00000507335.1:p.Met610Thr
ENST00000684640.1:c.1896T>C	ENSP00000507292.1:n.1896T>C
ENST00000684673.1:c.*529T>C	ENSP00000507746.1:n.*529T>C
ENST00000684684.1:c.*1186T>C	ENSP00000507026.1:n.*1186T>C
ENST00000245157.11:c.1934T>C MANE Select	ENSP00000245157.5:p.Met645Thr
ENST00000245157.9:c.1934T>C	ENSP00000245157.5:p.Met645Thr
ENST00000562813.1:n.3421T>C
ENST00000564123.6:c.24T>C
ENST00000564459.5:c.197T>C	ENSP00000463731.1:p.Met66Thr
ENST00000565781.5:n.5465T>C
ENST00000568104.5:c.1796T>C	ENSP00000456289.1:p.Met599Thr
ENST00000569192.5:n.608T>C
NM_031885.3:c.1934T>C	NP_114091.3:p.Met645Thr
XM_005256080.1:c.1934T>C	XP_005256137.1:p.Met645Thr
XR_933378.1:n.1995T>C
XM_005256080.2:c.1934T>C	XP_005256137.1:p.Met645Thr
XR_001751958.1:n.2295T>C
XR_001751959.2:n.2292T>C
XR_001751960.1:n.1995T>C
XR_001751961.1:n.1995T>C
XR_933380.2:n.2123T>C
NM_031885.4:c.1934T>C	NP_114091.3:p.Met645Thr
NM_001377456.1:c.1934T>C	NP_001364385.1:p.Met645Thr
NM_031885.5:c.1934T>C MANE Select	NP_114091.4:p.Met645Thr
NR_165293.1:n.2224T>C
NR_165294.1:n.2221T>C
NR_165295.1:n.2052T>C
NR_165296.1:n.1924T>C
NR_165297.1:n.1924T>C