Canonical Allele Identifier: CA395975851

Gene: BBS2

Linked Data

• dbSNP Id: rs1008174890
• MyVariant Identifiers: chr16:g.56531690C>G (hg19) ; chr16:g.56497778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56497778C>G , CM000678.2:g.56497778C>G	GRCh38
NC_000016.9:g.56531690C>G , CM000678.1:g.56531690C>G	GRCh37
NC_000016.8:g.55089191C>G	NCBI36
NG_009312.1:g.27506G>C
NG_009312.2:g.27247G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561877.2:c.1749G>C	ENSP00000454986.2:n.1749G>C
ENST00000562813.2:n.2586G>C
ENST00000564459.6:n.489G>C
ENST00000565781.6:n.5293G>C
ENST00000565859.2:n.2836G>C
ENST00000566210.2:n.2191G>C
ENST00000566410.2:n.5276G>C
ENST00000566452.2:n.2222G>C
ENST00000566495.2:n.731G>C
ENST00000568104.6:c.1659+659G>C	ENSP00000456289.1:n.1659+659G>C
ENST00000569192.6:n.867G>C
ENST00000618027.2:n.541G>C
ENST00000682000.1:n.1320G>C
ENST00000682001.1:n.2791G>C
ENST00000682005.1:n.1753G>C
ENST00000682038.1:c.*1151G>C	ENSP00000508404.1:n.*1151G>C
ENST00000682047.1:c.1762G>C	ENSP00000507699.1:p.Val588Leu
ENST00000682088.1:c.*4703G>C	ENSP00000508064.1:n.*4703G>C
ENST00000682096.1:n.4212G>C
ENST00000682113.1:n.3979G>C
ENST00000682146.1:n.2919G>C
ENST00000682187.1:c.*1186G>C	ENSP00000507203.1:n.*1186G>C
ENST00000682188.1:c.1762G>C	ENSP00000507655.1:p.Val588Leu
ENST00000682201.1:n.1753G>C
ENST00000682205.1:c.1762G>C	ENSP00000508377.1:p.Val588Leu
ENST00000682348.1:c.*811G>C	ENSP00000506965.1:n.*811G>C
ENST00000682360.1:c.1165G>C	ENSP00000508007.1:p.Val389Leu
ENST00000682370.1:n.3128G>C
ENST00000682420.1:n.2309G>C
ENST00000682429.1:c.*431G>C	ENSP00000506827.1:n.*431G>C
ENST00000682449.1:c.*513G>C	ENSP00000507836.1:n.*513G>C
ENST00000682470.1:c.1762G>C	ENSP00000507654.1:p.Val588Leu
ENST00000682473.1:n.1727G>C
ENST00000682482.1:c.1636G>C	ENSP00000507903.1:p.Val546Leu
ENST00000682492.1:n.1850G>C
ENST00000682493.1:c.*357G>C	ENSP00000506778.1:n.*357G>C
ENST00000682543.1:c.*1186G>C	ENSP00000507592.1:n.*1186G>C
ENST00000682597.1:n.3949G>C
ENST00000682623.1:n.363G>C
ENST00000682658.1:c.*794G>C	ENSP00000507773.1:n.*794G>C
ENST00000682705.1:n.2831G>C
ENST00000682723.1:c.1165G>C	ENSP00000507115.1:p.Val389Leu
ENST00000682735.1:c.*3430G>C	ENSP00000507007.1:n.*3430G>C
ENST00000682737.1:c.1165G>C	ENSP00000506876.1:p.Val389Leu
ENST00000682757.1:n.3455G>C
ENST00000682855.1:c.1762G>C	ENSP00000507027.1:p.Val588Leu
ENST00000682875.1:c.1762G>C	ENSP00000507771.1:p.Val588Leu
ENST00000682930.1:c.1687G>C	ENSP00000507981.1:p.Val563Leu
ENST00000682948.1:n.2794G>C
ENST00000682960.1:n.4003G>C
ENST00000683008.1:n.5158G>C
ENST00000683020.1:c.*303G>C	ENSP00000507944.1:n.*303G>C
ENST00000683099.1:n.3128G>C
ENST00000683170.1:n.3487G>C
ENST00000683212.1:c.*303G>C	ENSP00000507839.1:n.*303G>C
ENST00000683248.1:n.3720G>C
ENST00000683343.1:n.2616G>C
ENST00000683347.1:n.1969G>C
ENST00000683384.1:c.1783G>C	ENSP00000508330.1:n.1783G>C
ENST00000683396.1:n.4539G>C
ENST00000683410.1:n.2184G>C
ENST00000683443.1:n.1396G>C
ENST00000683485.1:n.4330G>C
ENST00000683504.1:n.7353G>C
ENST00000683533.1:c.*1186G>C	ENSP00000508296.1:n.*1186G>C
ENST00000683609.1:n.3831G>C
ENST00000683644.1:c.*936G>C	ENSP00000507914.1:n.*936G>C
ENST00000683660.1:n.1975G>C
ENST00000683669.1:n.1645G>C
ENST00000683690.1:c.*3214G>C	ENSP00000508152.1:n.*3214G>C
ENST00000683719.1:n.1745G>C
ENST00000683757.1:n.1751G>C
ENST00000683858.1:c.1714G>C	ENSP00000507657.1:p.Val572Leu
ENST00000683875.1:c.1534G>C	ENSP00000507602.1:p.Val512Leu
ENST00000683904.1:n.4067G>C
ENST00000683910.1:n.4457G>C
ENST00000683959.1:c.*811G>C	ENSP00000508309.1:n.*811G>C
ENST00000683976.1:c.*1311G>C	ENSP00000507183.1:n.*1311G>C
ENST00000683978.1:n.1905G>C
ENST00000683992.1:c.*1402G>C	ENSP00000508144.1:n.*1402G>C
ENST00000684020.1:n.2184G>C
ENST00000684044.1:n.2750G>C
ENST00000684057.1:n.2680G>C
ENST00000684076.1:n.3142G>C
ENST00000684128.1:n.3330G>C
ENST00000684194.1:n.3393G>C
ENST00000684205.1:n.3441G>C
ENST00000684246.1:c.*1402G>C	ENSP00000508273.1:n.*1402G>C
ENST00000684388.1:c.682G>C	ENSP00000507647.1:p.Val228Leu
ENST00000684402.1:n.3003G>C
ENST00000684446.1:n.3246G>C
ENST00000684531.1:n.3204G>C
ENST00000684635.1:c.1657G>C	ENSP00000507335.1:p.Val553Leu
ENST00000684640.1:c.1724G>C	ENSP00000507292.1:n.1724G>C
ENST00000684673.1:c.*357G>C	ENSP00000507746.1:n.*357G>C
ENST00000684684.1:c.*1014G>C	ENSP00000507026.1:n.*1014G>C
ENST00000245157.11:c.1762G>C MANE Select	ENSP00000245157.5:p.Val588Leu
ENST00000245157.9:c.1762G>C	ENSP00000245157.5:p.Val588Leu
ENST00000561877.1:c.586G>C
ENST00000562813.1:n.2586G>C
ENST00000564459.5:c.25G>C	ENSP00000463731.1:p.Val9Leu
ENST00000565781.5:n.5293G>C
ENST00000566495.1:n.731G>C
ENST00000568104.5:c.1659+659G>C	ENSP00000456289.1:n.1659+659G>C
ENST00000569192.5:n.436G>C
NM_031885.3:c.1762G>C	NP_114091.3:p.Val588Leu
XM_005256080.1:c.1762G>C	XP_005256137.1:p.Val588Leu
XR_933378.1:n.1823G>C
XM_005256080.2:c.1762G>C	XP_005256137.1:p.Val588Leu
XR_001751958.1:n.2123G>C
XR_001751959.2:n.2120G>C
XR_001751960.1:n.1823G>C
XR_001751961.1:n.1823G>C
XR_933380.2:n.1951G>C
NM_031885.4:c.1762G>C	NP_114091.3:p.Val588Leu
NM_001377456.1:c.1762G>C	NP_001364385.1:p.Val588Leu
NM_031885.5:c.1762G>C MANE Select	NP_114091.4:p.Val588Leu
NR_165293.1:n.2052G>C
NR_165294.1:n.2049G>C
NR_165295.1:n.1880G>C
NR_165296.1:n.1752G>C
NR_165297.1:n.1752G>C