Canonical Allele Identifier: CA281478600
Community Standard Title: NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)
Gene: BBS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56497063G>C , CM000678.2:g.56497063G>C GRCh38
NC_000016.9:g.56530975G>C , CM000678.1:g.56530975G>C GRCh37
NC_000016.8:g.55088476G>C NCBI36
NG_009312.1:g.28221C>G
NG_009312.2:g.27962C>G

Transcript Alleles

HGVS Amino-acid Change
NM_031885.5:c.1814C>G MANE Select NP_114091.4:p.Ser605Ter
ENST00000245157.11:c.1814C>G MANE Select ENSP00000245157.5:p.Ser605Ter
NM_001377456.1:c.1814C>G NP_001364385.1:p.Ser605Ter
NM_031885.3:c.1814C>G NP_114091.3:p.Ser605Ter
NM_031885.4:c.1814C>G NP_114091.3:p.Ser605Ter
NR_165293.1:n.2104C>G
NR_165294.1:n.2101C>G
NR_165295.1:n.1932C>G
NR_165296.1:n.1804C>G
NR_165297.1:n.1804C>G
ENST00000245157.9:c.1814C>G ENSP00000245157.5:p.Ser605Ter
ENST00000561877.2:c.1801C>G ENSP00000454986.2:n.1801C>G
ENST00000562813.1:n.3301C>G
ENST00000562813.2:n.3301C>G
ENST00000564459.5:c.77C>G ENSP00000463731.1:p.Ser26Ter
ENST00000564459.6:n.541C>G
ENST00000565781.5:n.5345C>G
ENST00000565781.6:n.5345C>G
ENST00000565859.2:n.2888C>G
ENST00000566210.2:n.2243C>G
ENST00000566410.2:n.5328C>G
ENST00000566452.2:n.2937C>G
ENST00000566495.2:n.783C>G
ENST00000568104.5:c.1676C>G ENSP00000456289.1:p.Ser559Ter
ENST00000568104.6:c.1676C>G ENSP00000456289.1:p.Ser559Ter
ENST00000569192.5:n.488C>G
ENST00000569192.6:n.919C>G
ENST00000618027.2:n.593C>G
ENST00000682000.1:n.1372C>G
ENST00000682001.1:n.2843C>G
ENST00000682005.1:n.1805C>G
ENST00000682038.1:c.*1203C>G ENSP00000508404.1:n.*1203C>G
ENST00000682047.1:c.1814C>G ENSP00000507699.1:p.Ser605Ter
ENST00000682088.1:c.*4755C>G ENSP00000508064.1:n.*4755C>G
ENST00000682096.1:n.4264C>G
ENST00000682113.1:n.4031C>G
ENST00000682146.1:n.2971C>G
ENST00000682187.1:c.*1238C>G ENSP00000507203.1:n.*1238C>G
ENST00000682188.1:c.1859C>G ENSP00000507655.1:p.Ser620Ter
ENST00000682201.1:n.1805C>G
ENST00000682205.1:c.1814C>G ENSP00000508377.1:p.Ser605Ter
ENST00000682348.1:c.*863C>G ENSP00000506965.1:n.*863C>G
ENST00000682360.1:c.1217C>G ENSP00000508007.1:p.Ser406Ter
ENST00000682370.1:n.3180C>G
ENST00000682420.1:n.2361C>G
ENST00000682429.1:c.*483C>G ENSP00000506827.1:n.*483C>G
ENST00000682449.1:c.*565C>G ENSP00000507836.1:n.*565C>G
ENST00000682470.1:c.1814C>G ENSP00000507654.1:p.Ser605Ter
ENST00000682473.1:n.1779C>G
ENST00000682482.1:c.1688C>G ENSP00000507903.1:p.Ser563Ter
ENST00000682492.1:n.1902C>G
ENST00000682493.1:c.*409C>G ENSP00000506778.1:n.*409C>G
ENST00000682543.1:c.*1238C>G ENSP00000507592.1:n.*1238C>G
ENST00000682597.1:n.4001C>G
ENST00000682623.1:n.415C>G
ENST00000682658.1:c.*846C>G ENSP00000507773.1:n.*846C>G
ENST00000682705.1:n.2883C>G
ENST00000682723.1:c.1217C>G ENSP00000507115.1:p.Ser406Ter
ENST00000682735.1:c.*3482C>G ENSP00000507007.1:n.*3482C>G
ENST00000682737.1:c.1217C>G ENSP00000506876.1:p.Ser406Ter
ENST00000682757.1:n.3507C>G
ENST00000682855.1:c.1814C>G ENSP00000507027.1:p.Ser605Ter
ENST00000682875.1:c.1814C>G ENSP00000507771.1:p.Ser605Ter
ENST00000682930.1:c.1739C>G ENSP00000507981.1:p.Ser580Ter
ENST00000682948.1:n.2846C>G
ENST00000682960.1:n.4055C>G
ENST00000683008.1:n.5210C>G
ENST00000683020.1:c.*355C>G ENSP00000507944.1:n.*355C>G
ENST00000683099.1:n.3843C>G
ENST00000683170.1:n.3539C>G
ENST00000683212.1:c.*355C>G ENSP00000507839.1:n.*355C>G
ENST00000683248.1:n.3772C>G
ENST00000683343.1:n.2668C>G
ENST00000683347.1:n.2021C>G
ENST00000683384.1:c.1835C>G ENSP00000508330.1:n.1835C>G
ENST00000683396.1:n.4591C>G
ENST00000683410.1:n.2236C>G
ENST00000683443.1:n.1448C>G
ENST00000683485.1:n.4382C>G
ENST00000683504.1:n.7405C>G
ENST00000683533.1:c.*1238C>G ENSP00000508296.1:n.*1238C>G
ENST00000683609.1:n.3883C>G
ENST00000683644.1:c.*988C>G ENSP00000507914.1:n.*988C>G
ENST00000683660.1:n.2027C>G
ENST00000683669.1:n.1697C>G
ENST00000683690.1:c.*3266C>G ENSP00000508152.1:n.*3266C>G
ENST00000683719.1:n.1797C>G
ENST00000683757.1:n.1803C>G
ENST00000683858.1:c.1766C>G ENSP00000507657.1:p.Ser589Ter
ENST00000683875.1:c.1586C>G ENSP00000507602.1:p.Ser529Ter
ENST00000683904.1:n.4119C>G
ENST00000683910.1:n.4509C>G
ENST00000683959.1:c.*863C>G ENSP00000508309.1:n.*863C>G
ENST00000683976.1:c.*1363C>G ENSP00000507183.1:n.*1363C>G
ENST00000683978.1:n.1957C>G
ENST00000683992.1:c.*1454C>G ENSP00000508144.1:n.*1454C>G
ENST00000684020.1:n.2236C>G
ENST00000684044.1:n.2802C>G
ENST00000684057.1:n.2732C>G
ENST00000684076.1:n.3194C>G
ENST00000684128.1:n.3382C>G
ENST00000684194.1:n.3445C>G
ENST00000684205.1:n.3493C>G
ENST00000684246.1:c.*1454C>G ENSP00000508273.1:n.*1454C>G
ENST00000684388.1:c.734C>G ENSP00000507647.1:p.Ser245Ter
ENST00000684402.1:n.3055C>G
ENST00000684446.1:n.3298C>G
ENST00000684531.1:n.3256C>G
ENST00000684635.1:c.1709C>G ENSP00000507335.1:p.Ser570Ter
ENST00000684640.1:c.1776C>G ENSP00000507292.1:n.1776C>G
ENST00000684673.1:c.*409C>G ENSP00000507746.1:n.*409C>G
ENST00000684684.1:c.*1066C>G ENSP00000507026.1:n.*1066C>G
XM_005256080.1:c.1814C>G XP_005256137.1:p.Ser605Ter
XM_005256080.2:c.1814C>G XP_005256137.1:p.Ser605Ter
XR_001751958.1:n.2175C>G
XR_001751959.2:n.2172C>G
XR_001751960.1:n.1875C>G
XR_001751961.1:n.1875C>G
XR_933378.1:n.1875C>G
XR_933380.2:n.2003C>G