Canonical Allele Identifier: CA2202022899

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2071796_2071798delinsAGG , CM000678.2:g.2071796_2071798delinsAGG	GRCh38
NC_000016.9:g.2121797_2121799delinsAGG , CM000678.1:g.2121797_2121799delinsAGG	GRCh37
NC_000016.8:g.2061798_2061800delinsAGG	NCBI36
NG_005895.1:g.27491_27493delinsAGG , LRG_487:g.27491_27493delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*506_*508delinsAGG	ENSP00000455997.2:n.*506_*508delinsAGG
ENST00000642206.2:c.2004_2006delinsAGG	ENSP00000495146.2:p.Arg668=
ENST00000642365.2:c.1959_1961delinsAGG	ENSP00000495459.2:p.Arg653=
ENST00000644417.2:c.*1396_*1398delinsAGG	ENSP00000493912.2:n.*1396_*1398delinsAGG
ENST00000646464.2:c.*1564_*1566delinsAGG	ENSP00000496610.2:n.*1564_*1566delinsAGG
ENST00000219476.9:c.1959_1961delinsAGG MANE Select	ENSP00000219476.3:p.Arg653=
ENST00000350773.9:c.1959_1961delinsAGG	ENSP00000344383.4:p.Arg653=
ENST00000401874.7:c.1959_1961delinsAGG	ENSP00000384468.2:p.Arg653=
ENST00000563346.2:n.137_139delinsAGG
ENST00000568454.6:c.1992_1994delinsAGG	ENSP00000454487.1:p.Arg664=
ENST00000642365.1:c.616_618delinsAGG
ENST00000642561.1:c.1959_1961delinsAGG	ENSP00000495099.1:p.Arg653=
ENST00000642797.1:c.1959_1961delinsAGG	ENSP00000493846.1:p.Arg653=
ENST00000642936.1:c.1959_1961delinsAGG	ENSP00000494514.1:p.Arg653=
ENST00000643088.1:c.1959_1961delinsAGG	ENSP00000494747.1:p.Arg653=
ENST00000643298.1:c.*1461_*1463delinsAGG	ENSP00000494393.1:n.*1461_*1463delinsAGG
ENST00000643946.1:c.1959_1961delinsAGG	ENSP00000495927.1:p.Arg653=
ENST00000644043.1:c.1959_1961delinsAGG	ENSP00000496262.1:p.Arg653=
ENST00000644329.1:c.1959_1961delinsAGG	ENSP00000496611.1:p.Arg653=
ENST00000644335.1:c.1959_1961delinsAGG	ENSP00000496317.1:p.Arg653=
ENST00000644399.1:c.1952_1954delinsAGG
ENST00000644847.1:n.951_953delinsAGG
ENST00000645024.1:n.241_243delinsAGG
ENST00000645552.1:n.239_241delinsAGG
ENST00000646388.1:c.1959_1961delinsAGG	ENSP00000495921.1:p.Arg653=
ENST00000646464.1:c.12_14delinsAGG	ENSP00000496610.1:p.Arg4=
ENST00000646634.1:n.972_974delinsAGG
ENST00000219476.7:c.1959_1961delinsAGG	ENSP00000219476.3:p.Arg653=
ENST00000350773.8:c.1959_1961delinsAGG	ENSP00000344383.4:p.Arg653=
ENST00000382538.10:c.1812_1814delinsAGG	ENSP00000371978.6:p.Arg604=
ENST00000401874.6:c.1959_1961delinsAGG	ENSP00000384468.2:p.Arg653=
ENST00000439117.6:c.*1258_*1260delinsAGG	ENSP00000406980.2:n.*1258_*1260delinsAGG
ENST00000439673.6:c.1848_1850delinsAGG	ENSP00000399232.2:p.Arg616=
ENST00000488675.5:n.466_468delinsAGG
ENST00000563346.1:n.28_30delinsAGG
ENST00000568454.5:c.1992_1994delinsAGG	ENSP00000454487.1:p.Arg664=
NM_000548.3:c.1959_1961delinsAGG , LRG_487t1:c.1959_1961delinsAGG	NP_000539.2:p.Arg653=
NM_001077183.1:c.1959_1961delinsAGG	NP_001070651.1:p.Arg653=
NM_001114382.1:c.1959_1961delinsAGG	NP_001107854.1:p.Arg653=
XM_005255529.3:c.1959_1961delinsAGG	XP_005255586.2:p.Arg653=
XM_005255531.3:c.1959_1961delinsAGG	XP_005255588.2:p.Arg653=
XM_011522636.1:c.1959_1961delinsAGG	XP_011520938.1:p.Arg653=
XM_011522637.1:c.1959_1961delinsAGG	XP_011520939.1:p.Arg653=
XM_011522638.1:c.1848_1850delinsAGG	XP_011520940.1:p.Arg616=
XM_011522639.1:c.1959_1961delinsAGG	XP_011520941.1:p.Arg653=
XM_011522640.1:c.1959_1961delinsAGG	XP_011520942.1:p.Arg653=
XM_011522641.1:c.1848_1850delinsAGG	XP_011520943.1:p.Arg616=
NM_000548.4:c.1959_1961delinsAGG	NP_000539.2:p.Arg653=
NM_001077183.2:c.1959_1961delinsAGG	NP_001070651.1:p.Arg653=
NM_001114382.2:c.1959_1961delinsAGG	NP_001107854.1:p.Arg653=
NM_001318827.1:c.1848_1850delinsAGG	NP_001305756.1:p.Arg616=
NM_001318829.1:c.1812_1814delinsAGG	NP_001305758.1:p.Arg604=
NM_001318831.1:c.1359_1361delinsAGG	NP_001305760.1:p.Arg453=
NM_001318832.1:c.1992_1994delinsAGG	NP_001305761.1:p.Arg664=
NM_001363528.1:c.1959_1961delinsAGG	NP_001350457.1:p.Arg653=
NM_021055.2:c.1959_1961delinsAGG	NP_066399.2:p.Arg653=
XM_005255531.4:c.1959_1961delinsAGG	XP_005255588.2:p.Arg653=
XM_011522636.2:c.1959_1961delinsAGG	XP_011520938.1:p.Arg653=
XM_011522637.2:c.1959_1961delinsAGG	XP_011520939.1:p.Arg653=
XM_011522638.2:c.2121_2123delinsAGG	XP_011520940.2:p.Arg707=
XM_011522639.2:c.1959_1961delinsAGG	XP_011520941.1:p.Arg653=
XM_011522640.2:c.1959_1961delinsAGG	XP_011520942.1:p.Arg653=
XM_017023615.1:c.1959_1961delinsAGG	XP_016879104.1:p.Arg653=
XM_017023616.1:c.1959_1961delinsAGG	XP_016879105.1:p.Arg653=
XM_017023617.1:c.2121_2123delinsAGG	XP_016879106.1:p.Arg707=
XM_017023618.1:c.615_617delinsAGG	XP_016879107.1:p.Arg205=
XM_024450413.1:c.1959_1961delinsAGG	XP_024306181.1:p.Arg653=
NM_000548.5:c.1959_1961delinsAGG MANE Select	NP_000539.2:p.Arg653=
NM_001370404.1:c.1959_1961delinsAGG	NP_001357333.1:p.Arg653=
NM_001370405.1:c.1959_1961delinsAGG	NP_001357334.1:p.Arg653=
NM_001077183.3:c.1959_1961delinsAGG	NP_001070651.1:p.Arg653=
NM_001114382.3:c.1959_1961delinsAGG	NP_001107854.1:p.Arg653=
NM_001318827.2:c.1848_1850delinsAGG	NP_001305756.1:p.Arg616=
NM_001318829.2:c.1812_1814delinsAGG	NP_001305758.1:p.Arg604=
NM_001318831.2:c.1359_1361delinsAGG	NP_001305760.1:p.Arg453=
NM_001318832.2:c.1992_1994delinsAGG	NP_001305761.1:p.Arg664=
NM_001363528.2:c.1959_1961delinsAGG	NP_001350457.1:p.Arg653=
NM_021055.3:c.1959_1961delinsAGG	NP_066399.2:p.Arg653=