Canonical Allele Identifier: CA395975844

Gene: BBS2

Linked Data

• MyVariant Identifiers: chr16:g.56531687A>C (hg19) ; chr16:g.56497775A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56497775A>C , CM000678.2:g.56497775A>C	GRCh38
NC_000016.9:g.56531687A>C , CM000678.1:g.56531687A>C	GRCh37
NC_000016.8:g.55089188A>C	NCBI36
NG_009312.1:g.27509T>G
NG_009312.2:g.27250T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561877.2:c.1752T>G	ENSP00000454986.2:n.1752T>G
ENST00000562813.2:n.2589T>G
ENST00000564459.6:n.492T>G
ENST00000565781.6:n.5296T>G
ENST00000565859.2:n.2839T>G
ENST00000566210.2:n.2194T>G
ENST00000566410.2:n.5279T>G
ENST00000566452.2:n.2225T>G
ENST00000566495.2:n.734T>G
ENST00000568104.6:c.1659+662T>G	ENSP00000456289.1:n.1659+662T>G
ENST00000569192.6:n.870T>G
ENST00000618027.2:n.544T>G
ENST00000682000.1:n.1323T>G
ENST00000682001.1:n.2794T>G
ENST00000682005.1:n.1756T>G
ENST00000682038.1:c.*1154T>G	ENSP00000508404.1:n.*1154T>G
ENST00000682047.1:c.1765T>G	ENSP00000507699.1:p.Tyr589Asp
ENST00000682088.1:c.*4706T>G	ENSP00000508064.1:n.*4706T>G
ENST00000682096.1:n.4215T>G
ENST00000682113.1:n.3982T>G
ENST00000682146.1:n.2922T>G
ENST00000682187.1:c.*1189T>G	ENSP00000507203.1:n.*1189T>G
ENST00000682188.1:c.1765T>G	ENSP00000507655.1:p.Tyr589Asp
ENST00000682201.1:n.1756T>G
ENST00000682205.1:c.1765T>G	ENSP00000508377.1:p.Tyr589Asp
ENST00000682348.1:c.*814T>G	ENSP00000506965.1:n.*814T>G
ENST00000682360.1:c.1168T>G	ENSP00000508007.1:p.Tyr390Asp
ENST00000682370.1:n.3131T>G
ENST00000682420.1:n.2312T>G
ENST00000682429.1:c.*434T>G	ENSP00000506827.1:n.*434T>G
ENST00000682449.1:c.*516T>G	ENSP00000507836.1:n.*516T>G
ENST00000682470.1:c.1765T>G	ENSP00000507654.1:p.Tyr589Asp
ENST00000682473.1:n.1730T>G
ENST00000682482.1:c.1639T>G	ENSP00000507903.1:p.Tyr547Asp
ENST00000682492.1:n.1853T>G
ENST00000682493.1:c.*360T>G	ENSP00000506778.1:n.*360T>G
ENST00000682543.1:c.*1189T>G	ENSP00000507592.1:n.*1189T>G
ENST00000682597.1:n.3952T>G
ENST00000682623.1:n.366T>G
ENST00000682658.1:c.*797T>G	ENSP00000507773.1:n.*797T>G
ENST00000682705.1:n.2834T>G
ENST00000682723.1:c.1168T>G	ENSP00000507115.1:p.Tyr390Asp
ENST00000682735.1:c.*3433T>G	ENSP00000507007.1:n.*3433T>G
ENST00000682737.1:c.1168T>G	ENSP00000506876.1:p.Tyr390Asp
ENST00000682757.1:n.3458T>G
ENST00000682855.1:c.1765T>G	ENSP00000507027.1:p.Tyr589Asp
ENST00000682875.1:c.1765T>G	ENSP00000507771.1:p.Tyr589Asp
ENST00000682930.1:c.1690T>G	ENSP00000507981.1:p.Tyr564Asp
ENST00000682948.1:n.2797T>G
ENST00000682960.1:n.4006T>G
ENST00000683008.1:n.5161T>G
ENST00000683020.1:c.*306T>G	ENSP00000507944.1:n.*306T>G
ENST00000683099.1:n.3131T>G
ENST00000683170.1:n.3490T>G
ENST00000683212.1:c.*306T>G	ENSP00000507839.1:n.*306T>G
ENST00000683248.1:n.3723T>G
ENST00000683343.1:n.2619T>G
ENST00000683347.1:n.1972T>G
ENST00000683384.1:c.1786T>G	ENSP00000508330.1:n.1786T>G
ENST00000683396.1:n.4542T>G
ENST00000683410.1:n.2187T>G
ENST00000683443.1:n.1399T>G
ENST00000683485.1:n.4333T>G
ENST00000683504.1:n.7356T>G
ENST00000683533.1:c.*1189T>G	ENSP00000508296.1:n.*1189T>G
ENST00000683609.1:n.3834T>G
ENST00000683644.1:c.*939T>G	ENSP00000507914.1:n.*939T>G
ENST00000683660.1:n.1978T>G
ENST00000683669.1:n.1648T>G
ENST00000683690.1:c.*3217T>G	ENSP00000508152.1:n.*3217T>G
ENST00000683719.1:n.1748T>G
ENST00000683757.1:n.1754T>G
ENST00000683858.1:c.1717T>G	ENSP00000507657.1:p.Tyr573Asp
ENST00000683875.1:c.1537T>G	ENSP00000507602.1:p.Tyr513Asp
ENST00000683904.1:n.4070T>G
ENST00000683910.1:n.4460T>G
ENST00000683959.1:c.*814T>G	ENSP00000508309.1:n.*814T>G
ENST00000683976.1:c.*1314T>G	ENSP00000507183.1:n.*1314T>G
ENST00000683978.1:n.1908T>G
ENST00000683992.1:c.*1405T>G	ENSP00000508144.1:n.*1405T>G
ENST00000684020.1:n.2187T>G
ENST00000684044.1:n.2753T>G
ENST00000684057.1:n.2683T>G
ENST00000684076.1:n.3145T>G
ENST00000684128.1:n.3333T>G
ENST00000684194.1:n.3396T>G
ENST00000684205.1:n.3444T>G
ENST00000684246.1:c.*1405T>G	ENSP00000508273.1:n.*1405T>G
ENST00000684388.1:c.685T>G	ENSP00000507647.1:p.Tyr229Asp
ENST00000684402.1:n.3006T>G
ENST00000684446.1:n.3249T>G
ENST00000684531.1:n.3207T>G
ENST00000684635.1:c.1660T>G	ENSP00000507335.1:p.Tyr554Asp
ENST00000684640.1:c.1727T>G	ENSP00000507292.1:n.1727T>G
ENST00000684673.1:c.*360T>G	ENSP00000507746.1:n.*360T>G
ENST00000684684.1:c.*1017T>G	ENSP00000507026.1:n.*1017T>G
ENST00000245157.11:c.1765T>G MANE Select	ENSP00000245157.5:p.Tyr589Asp
ENST00000245157.9:c.1765T>G	ENSP00000245157.5:p.Tyr589Asp
ENST00000562813.1:n.2589T>G
ENST00000564459.5:c.28T>G	ENSP00000463731.1:p.Tyr10Asp
ENST00000565781.5:n.5296T>G
ENST00000566495.1:n.734T>G
ENST00000568104.5:c.1659+662T>G	ENSP00000456289.1:n.1659+662T>G
ENST00000569192.5:n.439T>G
NM_031885.3:c.1765T>G	NP_114091.3:p.Tyr589Asp
XM_005256080.1:c.1765T>G	XP_005256137.1:p.Tyr589Asp
XR_933378.1:n.1826T>G
XM_005256080.2:c.1765T>G	XP_005256137.1:p.Tyr589Asp
XR_001751958.1:n.2126T>G
XR_001751959.2:n.2123T>G
XR_001751960.1:n.1826T>G
XR_001751961.1:n.1826T>G
XR_933380.2:n.1954T>G
NM_031885.4:c.1765T>G	NP_114091.3:p.Tyr589Asp
NM_001377456.1:c.1765T>G	NP_001364385.1:p.Tyr589Asp
NM_031885.5:c.1765T>G MANE Select	NP_114091.4:p.Tyr589Asp
NR_165293.1:n.2055T>G
NR_165294.1:n.2052T>G
NR_165295.1:n.1883T>G
NR_165296.1:n.1755T>G
NR_165297.1:n.1755T>G