Canonical Allele Identifier: CA395975855

Gene: BBS2

Linked Data

• ClinVar Variation Id: 837285
• ClinVar RCV Id: RCV001038584 ; RCV001832390 ; RCV003411965
• dbSNP Id: rs1288834218
• gnomAD v2: 16-56531693-G-A
• gnomAD v3: 16-56497781-G-A
• gnomAD v4: 16-56497781-G-A
• COSMIC: COSM5851074
• MyVariant Identifiers: chr16:g.56531693G>A (hg19) ; chr16:g.56497781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56497781G>A , CM000678.2:g.56497781G>A	GRCh38
NC_000016.9:g.56531693G>A , CM000678.1:g.56531693G>A	GRCh37
NC_000016.8:g.55089194G>A	NCBI36
NG_009312.1:g.27503C>T
NG_009312.2:g.27244C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561877.2:c.1746C>T	ENSP00000454986.2:n.1746C>T
ENST00000562813.2:n.2583C>T
ENST00000564459.6:n.486C>T
ENST00000565781.6:n.5290C>T
ENST00000565859.2:n.2833C>T
ENST00000566210.2:n.2188C>T
ENST00000566410.2:n.5273C>T
ENST00000566452.2:n.2219C>T
ENST00000566495.2:n.728C>T
ENST00000568104.6:c.1659+656C>T	ENSP00000456289.1:n.1659+656C>T
ENST00000569192.6:n.864C>T
ENST00000618027.2:n.538C>T
ENST00000682000.1:n.1317C>T
ENST00000682001.1:n.2788C>T
ENST00000682005.1:n.1750C>T
ENST00000682038.1:c.*1148C>T	ENSP00000508404.1:n.*1148C>T
ENST00000682047.1:c.1759C>T	ENSP00000507699.1:p.Pro587Ser
ENST00000682088.1:c.*4700C>T	ENSP00000508064.1:n.*4700C>T
ENST00000682096.1:n.4209C>T
ENST00000682113.1:n.3976C>T
ENST00000682146.1:n.2916C>T
ENST00000682187.1:c.*1183C>T	ENSP00000507203.1:n.*1183C>T
ENST00000682188.1:c.1759C>T	ENSP00000507655.1:p.Pro587Ser
ENST00000682201.1:n.1750C>T
ENST00000682205.1:c.1759C>T	ENSP00000508377.1:p.Pro587Ser
ENST00000682348.1:c.*808C>T	ENSP00000506965.1:n.*808C>T
ENST00000682360.1:c.1162C>T	ENSP00000508007.1:p.Pro388Ser
ENST00000682370.1:n.3125C>T
ENST00000682420.1:n.2306C>T
ENST00000682429.1:c.*428C>T	ENSP00000506827.1:n.*428C>T
ENST00000682449.1:c.*510C>T	ENSP00000507836.1:n.*510C>T
ENST00000682470.1:c.1759C>T	ENSP00000507654.1:p.Pro587Ser
ENST00000682473.1:n.1724C>T
ENST00000682482.1:c.1633C>T	ENSP00000507903.1:p.Pro545Ser
ENST00000682492.1:n.1847C>T
ENST00000682493.1:c.*354C>T	ENSP00000506778.1:n.*354C>T
ENST00000682543.1:c.*1183C>T	ENSP00000507592.1:n.*1183C>T
ENST00000682597.1:n.3946C>T
ENST00000682623.1:n.360C>T
ENST00000682658.1:c.*791C>T	ENSP00000507773.1:n.*791C>T
ENST00000682705.1:n.2828C>T
ENST00000682723.1:c.1162C>T	ENSP00000507115.1:p.Pro388Ser
ENST00000682735.1:c.*3427C>T	ENSP00000507007.1:n.*3427C>T
ENST00000682737.1:c.1162C>T	ENSP00000506876.1:p.Pro388Ser
ENST00000682757.1:n.3452C>T
ENST00000682855.1:c.1759C>T	ENSP00000507027.1:p.Pro587Ser
ENST00000682875.1:c.1759C>T	ENSP00000507771.1:p.Pro587Ser
ENST00000682930.1:c.1684C>T	ENSP00000507981.1:p.Pro562Ser
ENST00000682948.1:n.2791C>T
ENST00000682960.1:n.4000C>T
ENST00000683008.1:n.5155C>T
ENST00000683020.1:c.*300C>T	ENSP00000507944.1:n.*300C>T
ENST00000683099.1:n.3125C>T
ENST00000683170.1:n.3484C>T
ENST00000683212.1:c.*300C>T	ENSP00000507839.1:n.*300C>T
ENST00000683248.1:n.3717C>T
ENST00000683343.1:n.2613C>T
ENST00000683347.1:n.1966C>T
ENST00000683384.1:c.1780C>T	ENSP00000508330.1:n.1780C>T
ENST00000683396.1:n.4536C>T
ENST00000683410.1:n.2181C>T
ENST00000683443.1:n.1393C>T
ENST00000683485.1:n.4327C>T
ENST00000683504.1:n.7350C>T
ENST00000683533.1:c.*1183C>T	ENSP00000508296.1:n.*1183C>T
ENST00000683609.1:n.3828C>T
ENST00000683644.1:c.*933C>T	ENSP00000507914.1:n.*933C>T
ENST00000683660.1:n.1972C>T
ENST00000683669.1:n.1642C>T
ENST00000683690.1:c.*3211C>T	ENSP00000508152.1:n.*3211C>T
ENST00000683719.1:n.1742C>T
ENST00000683757.1:n.1748C>T
ENST00000683858.1:c.1711C>T	ENSP00000507657.1:p.Pro571Ser
ENST00000683875.1:c.1531C>T	ENSP00000507602.1:p.Pro511Ser
ENST00000683904.1:n.4064C>T
ENST00000683910.1:n.4454C>T
ENST00000683959.1:c.*808C>T	ENSP00000508309.1:n.*808C>T
ENST00000683976.1:c.*1308C>T	ENSP00000507183.1:n.*1308C>T
ENST00000683978.1:n.1902C>T
ENST00000683992.1:c.*1399C>T	ENSP00000508144.1:n.*1399C>T
ENST00000684020.1:n.2181C>T
ENST00000684044.1:n.2747C>T
ENST00000684057.1:n.2677C>T
ENST00000684076.1:n.3139C>T
ENST00000684128.1:n.3327C>T
ENST00000684194.1:n.3390C>T
ENST00000684205.1:n.3438C>T
ENST00000684246.1:c.*1399C>T	ENSP00000508273.1:n.*1399C>T
ENST00000684388.1:c.679C>T	ENSP00000507647.1:p.Pro227Ser
ENST00000684402.1:n.3000C>T
ENST00000684446.1:n.3243C>T
ENST00000684531.1:n.3201C>T
ENST00000684635.1:c.1654C>T	ENSP00000507335.1:p.Pro552Ser
ENST00000684640.1:c.1721C>T	ENSP00000507292.1:n.1721C>T
ENST00000684673.1:c.*354C>T	ENSP00000507746.1:n.*354C>T
ENST00000684684.1:c.*1011C>T	ENSP00000507026.1:n.*1011C>T
ENST00000245157.11:c.1759C>T MANE Select	ENSP00000245157.5:p.Pro587Ser
ENST00000245157.9:c.1759C>T	ENSP00000245157.5:p.Pro587Ser
ENST00000561877.1:c.583C>T
ENST00000562813.1:n.2583C>T
ENST00000564459.5:c.22C>T	ENSP00000463731.1:p.Pro8Ser
ENST00000565781.5:n.5290C>T
ENST00000566495.1:n.728C>T
ENST00000568104.5:c.1659+656C>T	ENSP00000456289.1:n.1659+656C>T
ENST00000569192.5:n.433C>T
NM_031885.3:c.1759C>T	NP_114091.3:p.Pro587Ser
XM_005256080.1:c.1759C>T	XP_005256137.1:p.Pro587Ser
XR_933378.1:n.1820C>T
XM_005256080.2:c.1759C>T	XP_005256137.1:p.Pro587Ser
XR_001751958.1:n.2120C>T
XR_001751959.2:n.2117C>T
XR_001751960.1:n.1820C>T
XR_001751961.1:n.1820C>T
XR_933380.2:n.1948C>T
NM_031885.4:c.1759C>T	NP_114091.3:p.Pro587Ser
NM_001377456.1:c.1759C>T	NP_001364385.1:p.Pro587Ser
NM_031885.5:c.1759C>T MANE Select	NP_114091.4:p.Pro587Ser
NR_165293.1:n.2049C>T
NR_165294.1:n.2046C>T
NR_165295.1:n.1877C>T
NR_165296.1:n.1749C>T
NR_165297.1:n.1749C>T