Canonical Allele Identifier: CA2499223573

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56484871C>T , CM000678.2:g.56484871C>T	GRCh38
NC_000016.9:g.56518783C>T , CM000678.1:g.56518783C>T	GRCh37
NC_000016.8:g.55076284C>T	NCBI36
NG_009312.1:g.40413G>A
NG_009312.2:g.40154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561877.2:c.2047-4G>A	ENSP00000454986.2:n.2047-4G>A
ENST00000562813.2:n.3547-4G>A
ENST00000564123.7:n.905-4G>A
ENST00000564459.6:n.787-4G>A
ENST00000565781.6:n.5591-4G>A
ENST00000565859.2:n.3134-4G>A
ENST00000566210.2:n.2489-4G>A
ENST00000566410.2:n.5574-4G>A
ENST00000566452.2:n.3183-4G>A
ENST00000568104.6:c.1922-4G>A	ENSP00000456289.1:n.1922-4G>A
ENST00000569192.6:n.1165-4G>A
ENST00000618027.2:n.839-4G>A
ENST00000682000.1:n.1618-4G>A
ENST00000682001.1:n.3089-4G>A
ENST00000682038.1:c.*1449-4G>A	ENSP00000508404.1:n.*1449-4G>A
ENST00000682047.1:c.2060-4G>A	ENSP00000507699.1:n.2060-4G>A
ENST00000682088.1:c.*5001-4G>A	ENSP00000508064.1:n.*5001-4G>A
ENST00000682096.1:n.4510-4G>A
ENST00000682113.1:n.4277-4G>A
ENST00000682146.1:n.3217-4G>A
ENST00000682187.1:c.*1484-4G>A	ENSP00000507203.1:n.*1484-4G>A
ENST00000682188.1:c.2105-4G>A	ENSP00000507655.1:n.2105-4G>A
ENST00000682201.1:n.2051-4G>A
ENST00000682205.1:c.2060-4G>A	ENSP00000508377.1:n.2060-4G>A
ENST00000682348.1:c.*1109-4G>A	ENSP00000506965.1:n.*1109-4G>A
ENST00000682360.1:c.1463-4G>A	ENSP00000508007.1:n.1463-4G>A
ENST00000682370.1:n.3426-4G>A
ENST00000682420.1:n.2607-4G>A
ENST00000682429.1:c.*729-4G>A	ENSP00000506827.1:n.*729-4G>A
ENST00000682449.1:c.*811-4G>A	ENSP00000507836.1:n.*811-4G>A
ENST00000682470.1:c.2060-4G>A	ENSP00000507654.1:n.2060-4G>A
ENST00000682473.1:n.2025-4G>A
ENST00000682482.1:c.1934-4G>A	ENSP00000507903.1:n.1934-4G>A
ENST00000682492.1:n.2148-4G>A
ENST00000682493.1:c.*655-4G>A	ENSP00000506778.1:n.*655-4G>A
ENST00000682543.1:c.*1484-4G>A	ENSP00000507592.1:n.*1484-4G>A
ENST00000682597.1:n.4247-4G>A
ENST00000682658.1:c.*1092-4G>A	ENSP00000507773.1:n.*1092-4G>A
ENST00000682705.1:n.3129-4G>A
ENST00000682723.1:c.*139-4G>A	ENSP00000507115.1:n.*139-4G>A
ENST00000682735.1:c.*3728-4G>A	ENSP00000507007.1:n.*3728-4G>A
ENST00000682737.1:c.1463-4G>A	ENSP00000506876.1:n.1463-4G>A
ENST00000682757.1:n.3753-4G>A
ENST00000682855.1:c.2060-4G>A	ENSP00000507027.1:n.2060-4G>A
ENST00000682875.1:c.*139-4G>A	ENSP00000507771.1:n.*139-4G>A
ENST00000682930.1:c.1985-4G>A	ENSP00000507981.1:n.1985-4G>A
ENST00000682948.1:n.3092-4G>A
ENST00000682960.1:n.4301-4G>A
ENST00000683008.1:n.5515-4G>A
ENST00000683020.1:c.*601-4G>A	ENSP00000507944.1:n.*601-4G>A
ENST00000683099.1:n.4089-4G>A
ENST00000683170.1:n.3785-4G>A
ENST00000683212.1:c.*601-4G>A	ENSP00000507839.1:n.*601-4G>A
ENST00000683248.1:n.4018-4G>A
ENST00000683343.1:n.2914-4G>A
ENST00000683347.1:n.2267-4G>A
ENST00000683384.1:c.2081-4G>A	ENSP00000508330.1:n.2081-4G>A
ENST00000683396.1:n.4837-4G>A
ENST00000683410.1:n.2541-4G>A
ENST00000683443.1:n.1694-4G>A
ENST00000683485.1:n.4628-4G>A
ENST00000683504.1:n.7651-4G>A
ENST00000683533.1:c.*1484-4G>A	ENSP00000508296.1:n.*1484-4G>A
ENST00000683609.1:n.4129-4G>A
ENST00000683644.1:c.*1234-4G>A	ENSP00000507914.1:n.*1234-4G>A
ENST00000683690.1:c.*3512-4G>A	ENSP00000508152.1:n.*3512-4G>A
ENST00000683757.1:n.2049-4G>A
ENST00000683858.1:c.2012-4G>A	ENSP00000507657.1:n.2012-4G>A
ENST00000683875.1:c.1832-4G>A	ENSP00000507602.1:n.1832-4G>A
ENST00000683904.1:n.4365-4G>A
ENST00000683910.1:n.4755-4G>A
ENST00000683959.1:c.*1109-4G>A	ENSP00000508309.1:n.*1109-4G>A
ENST00000683976.1:c.*1609-4G>A	ENSP00000507183.1:n.*1609-4G>A
ENST00000683978.1:n.2203-4G>A
ENST00000683992.1:c.*1700-4G>A	ENSP00000508144.1:n.*1700-4G>A
ENST00000684020.1:n.2482-4G>A
ENST00000684044.1:n.3048-4G>A
ENST00000684057.1:n.2978-4G>A
ENST00000684076.1:n.3440-4G>A
ENST00000684128.1:n.3628-4G>A
ENST00000684194.1:n.3691-4G>A
ENST00000684205.1:n.3739-4G>A
ENST00000684246.1:c.*1700-4G>A	ENSP00000508273.1:n.*1700-4G>A
ENST00000684388.1:c.980-4G>A	ENSP00000507647.1:n.980-4G>A
ENST00000684402.1:n.3301-4G>A
ENST00000684446.1:n.3544-4G>A
ENST00000684531.1:n.3502-4G>A
ENST00000684635.1:c.1955-4G>A	ENSP00000507335.1:n.1955-4G>A
ENST00000684640.1:c.2022-4G>A	ENSP00000507292.1:n.2022-4G>A
ENST00000684673.1:c.*655-4G>A	ENSP00000507746.1:n.*655-4G>A
ENST00000684684.1:c.*1312-4G>A	ENSP00000507026.1:n.*1312-4G>A
ENST00000245157.11:c.2060-4G>A MANE Select	ENSP00000245157.5:n.2060-4G>A
ENST00000245157.9:c.2060-4G>A	ENSP00000245157.5:n.2060-4G>A
ENST00000562813.1:n.3547-4G>A
ENST00000564123.6:c.150-4G>A
ENST00000564459.5:c.323-4G>A	ENSP00000463731.1:n.323-4G>A
ENST00000565781.5:n.5591-4G>A
ENST00000568104.5:c.1922-4G>A	ENSP00000456289.1:n.1922-4G>A
NM_031885.3:c.2060-4G>A	NP_114091.3:n.2060-4G>A
XM_005256080.1:c.2060-4G>A	XP_005256137.1:n.2060-4G>A
XM_005256080.2:c.2060-4G>A	XP_005256137.1:n.2060-4G>A
XR_001751958.1:n.2421-4G>A
XR_001751959.2:n.2418-4G>A
XR_001751960.1:n.2121-4G>A
XR_001751961.1:n.2121-4G>A
XR_933380.2:n.2249-4G>A
NM_031885.4:c.2060-4G>A	NP_114091.3:n.2060-4G>A
NM_001377456.1:c.2060-4G>A	NP_001364385.1:n.2060-4G>A
NM_031885.5:c.2060-4G>A MANE Select	NP_114091.4:n.2060-4G>A
NR_165293.1:n.2350-4G>A
NR_165294.1:n.2347-4G>A
NR_165295.1:n.2178-4G>A
NR_165296.1:n.2050-4G>A
NR_165297.1:n.2050-4G>A