Canonical Allele Identifier: CA2695221747

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088125del , CM000678.2:g.2088125del	GRCh38
NC_000016.9:g.2138126del , CM000678.1:g.2138126del	GRCh37
NC_000016.8:g.2078127del	NCBI36
NG_005895.1:g.43820del , LRG_487:g.43820del
NG_008617.1:g.55097del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3495del	ENSP00000455997.2:n.*3495del
ENST00000642206.2:c.4993del	ENSP00000495146.2:p.Ala1665ProfsTer?
ENST00000642365.2:c.5143del	ENSP00000495459.2:p.Ala1715ProfsTer?
ENST00000644417.2:c.*5659del	ENSP00000493912.2:n.*5659del
ENST00000646464.2:c.*7895del	ENSP00000496610.2:n.*7895del
ENST00000219476.9:c.5146del MANE Select	ENSP00000219476.3:p.Ala1716ProfsTer?
ENST00000350773.9:c.5077del	ENSP00000344383.4:p.Ala1693ProfsTer?
ENST00000401874.7:c.4945del	ENSP00000384468.2:p.Ala1649ProfsTer?
ENST00000568454.6:c.4978del	ENSP00000454487.1:p.Ala1660ProfsTer?
ENST00000569110.2:c.1369del
ENST00000569930.2:n.3028del
ENST00000642365.1:c.3800del
ENST00000642561.1:c.5017del	ENSP00000495099.1:p.Ala1673ProfsTer?
ENST00000642791.1:n.743del
ENST00000642797.1:c.4948del	ENSP00000493846.1:p.Ala1650ProfsTer?
ENST00000642936.1:c.5014del	ENSP00000494514.1:p.Ala1672ProfsTer?
ENST00000643088.1:c.4939del	ENSP00000494747.1:p.Ala1647ProfsTer?
ENST00000643426.1:n.2794del
ENST00000643946.1:c.5071del	ENSP00000495927.1:p.Ala1691ProfsTer?
ENST00000644043.1:c.5017del	ENSP00000496262.1:p.Ala1673ProfsTer?
ENST00000644329.1:c.4945del	ENSP00000496611.1:p.Ala1649ProfsTer6
ENST00000644335.1:c.4942del	ENSP00000496317.1:p.Ala1648ProfsTer?
ENST00000644399.1:c.5067del
ENST00000645024.1:n.3230del
ENST00000646388.1:c.5140del	ENSP00000495921.1:p.Ala1714ProfsTer?
ENST00000646634.1:n.3961del
ENST00000646674.1:n.2398del
ENST00000647042.1:n.2369del
ENST00000647180.1:n.2259del
ENST00000219476.7:c.5146del	ENSP00000219476.3:p.Ala1716ProfsTer?
ENST00000350773.8:c.5077del	ENSP00000344383.4:p.Ala1693ProfsTer?
ENST00000382538.10:c.4801del	ENSP00000371978.6:p.Ala1601ProfsTer?
ENST00000401874.6:c.4945del	ENSP00000384468.2:p.Ala1649ProfsTer?
ENST00000439117.6:c.*4313del	ENSP00000406980.2:n.*4313del
ENST00000439673.6:c.4837del	ENSP00000399232.2:p.Ala1613ProfsTer?
ENST00000497886.5:n.2869del
ENST00000568454.5:c.4978del	ENSP00000454487.1:p.Ala1660ProfsTer?
ENST00000569110.1:c.1328del
ENST00000569930.1:n.2261del
NM_000548.3:c.5146del , LRG_487t1:c.5146del	NP_000539.2:p.Ala1716ProfsTer?
NM_001077183.1:c.4945del	NP_001070651.1:p.Ala1649ProfsTer?
NM_001114382.1:c.5077del	NP_001107854.1:p.Ala1693ProfsTer?
XM_005255529.3:c.5017del	XP_005255586.2:p.Ala1673ProfsTer?
XM_005255531.3:c.4948del	XP_005255588.2:p.Ala1650ProfsTer?
XM_011522636.1:c.5200del	XP_011520938.1:p.Ala1734ProfsTer?
XM_011522637.1:c.5197del	XP_011520939.1:p.Ala1733ProfsTer?
XM_011522638.1:c.5089del	XP_011520940.1:p.Ala1697ProfsTer?
XM_011522639.1:c.5071del	XP_011520941.1:p.Ala1691ProfsTer?
XM_011522640.1:c.5068del	XP_011520942.1:p.Ala1690ProfsTer?
XM_011522641.1:c.4837del	XP_011520943.1:p.Ala1613ProfsTer?
NM_000548.4:c.5146del	NP_000539.2:p.Ala1716ProfsTer?
NM_001077183.2:c.4945del	NP_001070651.1:p.Ala1649ProfsTer?
NM_001114382.2:c.5077del	NP_001107854.1:p.Ala1693ProfsTer?
NM_001318827.1:c.4837del	NP_001305756.1:p.Ala1613ProfsTer?
NM_001318829.1:c.4801del	NP_001305758.1:p.Ala1601ProfsTer?
NM_001318831.1:c.4414del	NP_001305760.1:p.Ala1472ProfsTer?
NM_001318832.1:c.4978del	NP_001305761.1:p.Ala1660ProfsTer?
NM_001363528.1:c.4948del	NP_001350457.1:p.Ala1650ProfsTer?
NM_021055.2:c.5017del	NP_066399.2:p.Ala1673ProfsTer?
XM_005255531.4:c.4948del	XP_005255588.2:p.Ala1650ProfsTer?
XM_011522636.2:c.5200del	XP_011520938.1:p.Ala1734ProfsTer?
XM_011522637.2:c.5197del	XP_011520939.1:p.Ala1733ProfsTer?
XM_011522638.2:c.5362del	XP_011520940.2:p.Ala1788ProfsTer?
XM_011522639.2:c.5071del	XP_011520941.1:p.Ala1691ProfsTer?
XM_011522640.2:c.5068del	XP_011520942.1:p.Ala1690ProfsTer?
XM_017023615.1:c.5143del	XP_016879104.1:p.Ala1715ProfsTer?
XM_017023616.1:c.5014del	XP_016879105.1:p.Ala1672ProfsTer?
XM_017023617.1:c.5110del	XP_016879106.1:p.Ala1704ProfsTer?
XM_017023618.1:c.3856del	XP_016879107.1:p.Ala1286ProfsTer?
XM_024450413.1:c.4945del	XP_024306181.1:p.Ala1649ProfsTer6
NM_000548.5:c.5146del MANE Select	NP_000539.2:p.Ala1716ProfsTer?
NM_001370404.1:c.5014del	NP_001357333.1:p.Ala1672ProfsTer?
NM_001370405.1:c.5017del	NP_001357334.1:p.Ala1673ProfsTer?
NM_001077183.3:c.4945del	NP_001070651.1:p.Ala1649ProfsTer?
NM_001114382.3:c.5077del	NP_001107854.1:p.Ala1693ProfsTer?
NM_001318827.2:c.4837del	NP_001305756.1:p.Ala1613ProfsTer?
NM_001318829.2:c.4801del	NP_001305758.1:p.Ala1601ProfsTer?
NM_001318831.2:c.4414del	NP_001305760.1:p.Ala1472ProfsTer?
NM_001318832.2:c.4978del	NP_001305761.1:p.Ala1660ProfsTer?
NM_001363528.2:c.4948del	NP_001350457.1:p.Ala1650ProfsTer?
NM_021055.3:c.5017del	NP_066399.2:p.Ala1673ProfsTer?