Canonical Allele Identifier: CA2202030716

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088117_2088118delinsGC , CM000678.2:g.2088117_2088118delinsGC	GRCh38
NC_000016.9:g.2138118_2138119delinsGC , CM000678.1:g.2138118_2138119delinsGC	GRCh37
NC_000016.8:g.2078119_2078120delinsGC	NCBI36
NG_005895.1:g.43812_43813delinsGC , LRG_487:g.43812_43813delinsGC
NG_008617.1:g.55103_55104delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3487_*3488delinsGC	ENSP00000455997.2:n.*3487_*3488delinsGC
ENST00000642206.2:c.4985_4986delinsGC	ENSP00000495146.2:p.Arg1662=
ENST00000642365.2:c.5135_5136delinsGC	ENSP00000495459.2:p.Arg1712=
ENST00000644417.2:c.*5651_*5652delinsGC	ENSP00000493912.2:n.*5651_*5652delinsGC
ENST00000646464.2:c.*7887_*7888delinsGC	ENSP00000496610.2:n.*7887_*7888delinsGC
ENST00000219476.9:c.5138_5139delinsGC MANE Select	ENSP00000219476.3:p.Arg1713=
ENST00000350773.9:c.5069_5070delinsGC	ENSP00000344383.4:p.Arg1690=
ENST00000401874.7:c.4937_4938delinsGC	ENSP00000384468.2:p.Arg1646=
ENST00000568454.6:c.4970_4971delinsGC	ENSP00000454487.1:p.Arg1657=
ENST00000569110.2:c.1361_1362delinsGC
ENST00000569930.2:n.3020_3021delinsGC
ENST00000642365.1:c.3792_3793delinsGC
ENST00000642561.1:c.5009_5010delinsGC	ENSP00000495099.1:p.Arg1670=
ENST00000642791.1:n.735_736delinsGC
ENST00000642797.1:c.4940_4941delinsGC	ENSP00000493846.1:p.Arg1647=
ENST00000642936.1:c.5006_5007delinsGC	ENSP00000494514.1:p.Arg1669=
ENST00000643088.1:c.4931_4932delinsGC	ENSP00000494747.1:p.Arg1644=
ENST00000643426.1:n.2786_2787delinsGC
ENST00000643946.1:c.5063_5064delinsGC	ENSP00000495927.1:p.Arg1688=
ENST00000644043.1:c.5009_5010delinsGC	ENSP00000496262.1:p.Arg1670=
ENST00000644329.1:c.4937_4938delinsGC	ENSP00000496611.1:p.Arg1646=
ENST00000644335.1:c.4934_4935delinsGC	ENSP00000496317.1:p.Arg1645=
ENST00000644399.1:c.5059_5060delinsGC
ENST00000645024.1:n.3222_3223delinsGC
ENST00000646388.1:c.5132_5133delinsGC	ENSP00000495921.1:p.Arg1711=
ENST00000646634.1:n.3953_3954delinsGC
ENST00000646674.1:n.2390_2391delinsGC
ENST00000647042.1:n.2361_2362delinsGC
ENST00000647180.1:n.2251_2252delinsGC
ENST00000219476.7:c.5138_5139delinsGC	ENSP00000219476.3:p.Arg1713=
ENST00000350773.8:c.5069_5070delinsGC	ENSP00000344383.4:p.Arg1690=
ENST00000382538.10:c.4793_4794delinsGC	ENSP00000371978.6:p.Arg1598=
ENST00000401874.6:c.4937_4938delinsGC	ENSP00000384468.2:p.Arg1646=
ENST00000439117.6:c.*4305_*4306delinsGC	ENSP00000406980.2:n.*4305_*4306delinsGC
ENST00000439673.6:c.4829_4830delinsGC	ENSP00000399232.2:p.Arg1610=
ENST00000497886.5:n.2861_2862delinsGC
ENST00000568454.5:c.4970_4971delinsGC	ENSP00000454487.1:p.Arg1657=
ENST00000569110.1:c.1320_1321delinsGC
ENST00000569930.1:n.2253_2254delinsGC
NM_000548.3:c.5138_5139delinsGC , LRG_487t1:c.5138_5139delinsGC	NP_000539.2:p.Arg1713=
NM_001077183.1:c.4937_4938delinsGC	NP_001070651.1:p.Arg1646=
NM_001114382.1:c.5069_5070delinsGC	NP_001107854.1:p.Arg1690=
XM_005255529.3:c.5009_5010delinsGC	XP_005255586.2:p.Arg1670=
XM_005255531.3:c.4940_4941delinsGC	XP_005255588.2:p.Arg1647=
XM_011522636.1:c.5192_5193delinsGC	XP_011520938.1:p.Arg1731=
XM_011522637.1:c.5189_5190delinsGC	XP_011520939.1:p.Arg1730=
XM_011522638.1:c.5081_5082delinsGC	XP_011520940.1:p.Arg1694=
XM_011522639.1:c.5063_5064delinsGC	XP_011520941.1:p.Arg1688=
XM_011522640.1:c.5060_5061delinsGC	XP_011520942.1:p.Arg1687=
XM_011522641.1:c.4829_4830delinsGC	XP_011520943.1:p.Arg1610=
NM_000548.4:c.5138_5139delinsGC	NP_000539.2:p.Arg1713=
NM_001077183.2:c.4937_4938delinsGC	NP_001070651.1:p.Arg1646=
NM_001114382.2:c.5069_5070delinsGC	NP_001107854.1:p.Arg1690=
NM_001318827.1:c.4829_4830delinsGC	NP_001305756.1:p.Arg1610=
NM_001318829.1:c.4793_4794delinsGC	NP_001305758.1:p.Arg1598=
NM_001318831.1:c.4406_4407delinsGC	NP_001305760.1:p.Arg1469=
NM_001318832.1:c.4970_4971delinsGC	NP_001305761.1:p.Arg1657=
NM_001363528.1:c.4940_4941delinsGC	NP_001350457.1:p.Arg1647=
NM_021055.2:c.5009_5010delinsGC	NP_066399.2:p.Arg1670=
XM_005255531.4:c.4940_4941delinsGC	XP_005255588.2:p.Arg1647=
XM_011522636.2:c.5192_5193delinsGC	XP_011520938.1:p.Arg1731=
XM_011522637.2:c.5189_5190delinsGC	XP_011520939.1:p.Arg1730=
XM_011522638.2:c.5354_5355delinsGC	XP_011520940.2:p.Arg1785=
XM_011522639.2:c.5063_5064delinsGC	XP_011520941.1:p.Arg1688=
XM_011522640.2:c.5060_5061delinsGC	XP_011520942.1:p.Arg1687=
XM_017023615.1:c.5135_5136delinsGC	XP_016879104.1:p.Arg1712=
XM_017023616.1:c.5006_5007delinsGC	XP_016879105.1:p.Arg1669=
XM_017023617.1:c.5102_5103delinsGC	XP_016879106.1:p.Arg1701=
XM_017023618.1:c.3848_3849delinsGC	XP_016879107.1:p.Arg1283=
XM_024450413.1:c.4937_4938delinsGC	XP_024306181.1:p.Arg1646=
NM_000548.5:c.5138_5139delinsGC MANE Select	NP_000539.2:p.Arg1713=
NM_001370404.1:c.5006_5007delinsGC	NP_001357333.1:p.Arg1669=
NM_001370405.1:c.5009_5010delinsGC	NP_001357334.1:p.Arg1670=
NM_001077183.3:c.4937_4938delinsGC	NP_001070651.1:p.Arg1646=
NM_001114382.3:c.5069_5070delinsGC	NP_001107854.1:p.Arg1690=
NM_001318827.2:c.4829_4830delinsGC	NP_001305756.1:p.Arg1610=
NM_001318829.2:c.4793_4794delinsGC	NP_001305758.1:p.Arg1598=
NM_001318831.2:c.4406_4407delinsGC	NP_001305760.1:p.Arg1469=
NM_001318832.2:c.4970_4971delinsGC	NP_001305761.1:p.Arg1657=
NM_001363528.2:c.4940_4941delinsGC	NP_001350457.1:p.Arg1647=
NM_021055.3:c.5009_5010delinsGC	NP_066399.2:p.Arg1670=