Canonical Allele Identifier: CA395972626

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56484843A>G , CM000678.2:g.56484843A>G	GRCh38
NC_000016.9:g.56518755A>G , CM000678.1:g.56518755A>G	GRCh37
NC_000016.8:g.55076256A>G	NCBI36
NG_009312.1:g.40441T>C
NG_009312.2:g.40182T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031885.5:c.2084T>C MANE Select	NP_114091.4:p.Ile695Thr
ENST00000245157.11:c.2084T>C MANE Select	ENSP00000245157.5:p.Ile695Thr
NM_001377456.1:c.2084T>C	NP_001364385.1:p.Ile695Thr
NM_031885.3:c.2084T>C	NP_114091.3:p.Ile695Thr
NM_031885.4:c.2084T>C	NP_114091.3:p.Ile695Thr
NR_165293.1:n.2374T>C
NR_165294.1:n.2371T>C
NR_165295.1:n.2202T>C
NR_165296.1:n.2074T>C
NR_165297.1:n.2074T>C
ENST00000245157.9:c.2084T>C	ENSP00000245157.5:p.Ile695Thr
ENST00000561877.2:c.2071T>C	ENSP00000454986.2:n.2071T>C
ENST00000562813.1:n.3571T>C
ENST00000562813.2:n.3571T>C
ENST00000564123.6:c.174T>C
ENST00000564123.7:n.929T>C
ENST00000564459.5:c.347T>C	ENSP00000463731.1:p.Ile116Thr
ENST00000564459.6:n.811T>C
ENST00000565781.5:n.5615T>C
ENST00000565781.6:n.5615T>C
ENST00000565859.2:n.3158T>C
ENST00000566210.2:n.2513T>C
ENST00000566410.2:n.5598T>C
ENST00000566452.2:n.3207T>C
ENST00000568104.5:c.1946T>C	ENSP00000456289.1:p.Ile649Thr
ENST00000568104.6:c.1946T>C	ENSP00000456289.1:p.Ile649Thr
ENST00000569192.6:n.1189T>C
ENST00000618027.2:n.863T>C
ENST00000682000.1:n.1642T>C
ENST00000682001.1:n.3113T>C
ENST00000682038.1:c.*1473T>C	ENSP00000508404.1:n.*1473T>C
ENST00000682047.1:c.2084T>C	ENSP00000507699.1:p.Ile695Thr
ENST00000682088.1:c.*5025T>C	ENSP00000508064.1:n.*5025T>C
ENST00000682096.1:n.4534T>C
ENST00000682113.1:n.4301T>C
ENST00000682146.1:n.3241T>C
ENST00000682187.1:c.*1508T>C	ENSP00000507203.1:n.*1508T>C
ENST00000682188.1:c.2129T>C	ENSP00000507655.1:p.Ile710Thr
ENST00000682201.1:n.2075T>C
ENST00000682205.1:c.2084T>C	ENSP00000508377.1:p.Ile695Thr
ENST00000682348.1:c.*1133T>C	ENSP00000506965.1:n.*1133T>C
ENST00000682360.1:c.1487T>C	ENSP00000508007.1:p.Ile496Thr
ENST00000682370.1:n.3450T>C
ENST00000682420.1:n.2631T>C
ENST00000682429.1:c.*753T>C	ENSP00000506827.1:n.*753T>C
ENST00000682449.1:c.*835T>C	ENSP00000507836.1:n.*835T>C
ENST00000682470.1:c.2084T>C	ENSP00000507654.1:p.Ile695Thr
ENST00000682473.1:n.2049T>C
ENST00000682482.1:c.1958T>C	ENSP00000507903.1:p.Ile653Thr
ENST00000682492.1:n.2172T>C
ENST00000682493.1:c.*679T>C	ENSP00000506778.1:n.*679T>C
ENST00000682543.1:c.*1508T>C	ENSP00000507592.1:n.*1508T>C
ENST00000682597.1:n.4271T>C
ENST00000682658.1:c.*1116T>C	ENSP00000507773.1:n.*1116T>C
ENST00000682705.1:n.3153T>C
ENST00000682723.1:c.*163T>C	ENSP00000507115.1:n.*163T>C
ENST00000682735.1:c.*3752T>C	ENSP00000507007.1:n.*3752T>C
ENST00000682737.1:c.1487T>C	ENSP00000506876.1:p.Ile496Thr
ENST00000682757.1:n.3777T>C
ENST00000682855.1:c.2084T>C	ENSP00000507027.1:p.Ile695Thr
ENST00000682875.1:c.*163T>C	ENSP00000507771.1:n.*163T>C
ENST00000682930.1:c.2009T>C	ENSP00000507981.1:p.Ile670Thr
ENST00000682948.1:n.3116T>C
ENST00000682960.1:n.4325T>C
ENST00000683008.1:n.5539T>C
ENST00000683020.1:c.*625T>C	ENSP00000507944.1:n.*625T>C
ENST00000683099.1:n.4113T>C
ENST00000683170.1:n.3809T>C
ENST00000683212.1:c.*625T>C	ENSP00000507839.1:n.*625T>C
ENST00000683248.1:n.4042T>C
ENST00000683343.1:n.2938T>C
ENST00000683347.1:n.2291T>C
ENST00000683384.1:c.2105T>C	ENSP00000508330.1:n.2105T>C
ENST00000683396.1:n.4861T>C
ENST00000683410.1:n.2565T>C
ENST00000683443.1:n.1718T>C
ENST00000683485.1:n.4652T>C
ENST00000683504.1:n.7675T>C
ENST00000683533.1:c.*1508T>C	ENSP00000508296.1:n.*1508T>C
ENST00000683609.1:n.4153T>C
ENST00000683644.1:c.*1258T>C	ENSP00000507914.1:n.*1258T>C
ENST00000683690.1:c.*3536T>C	ENSP00000508152.1:n.*3536T>C
ENST00000683757.1:n.2073T>C
ENST00000683858.1:c.2036T>C	ENSP00000507657.1:p.Ile679Thr
ENST00000683875.1:c.1856T>C	ENSP00000507602.1:p.Ile619Thr
ENST00000683904.1:n.4389T>C
ENST00000683910.1:n.4779T>C
ENST00000683959.1:c.*1133T>C	ENSP00000508309.1:n.*1133T>C
ENST00000683976.1:c.*1633T>C	ENSP00000507183.1:n.*1633T>C
ENST00000683978.1:n.2227T>C
ENST00000683992.1:c.*1724T>C	ENSP00000508144.1:n.*1724T>C
ENST00000684020.1:n.2506T>C
ENST00000684044.1:n.3072T>C
ENST00000684057.1:n.3002T>C
ENST00000684076.1:n.3464T>C
ENST00000684128.1:n.3652T>C
ENST00000684194.1:n.3715T>C
ENST00000684205.1:n.3763T>C
ENST00000684246.1:c.*1724T>C	ENSP00000508273.1:n.*1724T>C
ENST00000684388.1:c.1004T>C	ENSP00000507647.1:p.Ile335Thr
ENST00000684402.1:n.3325T>C
ENST00000684446.1:n.3568T>C
ENST00000684531.1:n.3526T>C
ENST00000684635.1:c.1979T>C	ENSP00000507335.1:p.Ile660Thr
ENST00000684640.1:c.2046T>C	ENSP00000507292.1:n.2046T>C
ENST00000684673.1:c.*679T>C	ENSP00000507746.1:n.*679T>C
ENST00000684684.1:c.*1336T>C	ENSP00000507026.1:n.*1336T>C
XM_005256080.1:c.2084T>C	XP_005256137.1:p.Ile695Thr
XM_005256080.2:c.2084T>C	XP_005256137.1:p.Ile695Thr
XR_001751958.1:n.2445T>C
XR_001751959.2:n.2442T>C
XR_001751960.1:n.2145T>C
XR_001751961.1:n.2145T>C
XR_933380.2:n.2273T>C