Canonical Allele Identifier: CA645572653

Gene: TSC2

Linked Data

• COSMIC: COSM1609082 ; COSM1609083

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088233_2088234insTA , CM000678.2:g.2088233_2088234insTA	GRCh38
NC_000016.9:g.2138234_2138235insTA , CM000678.1:g.2138234_2138235insTA	GRCh37
NC_000016.8:g.2078235_2078236insTA	NCBI36
NG_005895.1:g.43928_43929insTA , LRG_487:g.43928_43929insTA
NG_008617.1:g.54987_54988insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3516_*3517insTA	ENSP00000455997.2:n.*3516_*3517insTA
ENST00000642206.2:c.5014_5015insTA	ENSP00000495146.2:p.Ser1672LeufsTer?
ENST00000642365.2:c.5164_5165insTA	ENSP00000495459.2:p.Ser1722LeufsTer?
ENST00000644417.2:c.*5680_*5681insTA	ENSP00000493912.2:n.*5680_*5681insTA
ENST00000646464.2:c.*7916_*7917insTA	ENSP00000496610.2:n.*7916_*7917insTA
ENST00000219476.9:c.5167_5168insTA MANE Select	ENSP00000219476.3:p.Ser1723LeufsTer?
ENST00000350773.9:c.5098_5099insTA	ENSP00000344383.4:p.Ser1700LeufsTer?
ENST00000401874.7:c.4966_4967insTA	ENSP00000384468.2:p.Ser1656LeufsTer?
ENST00000568454.6:c.4999_5000insTA	ENSP00000454487.1:p.Ser1667LeufsTer?
ENST00000569110.2:c.1390_1391insTA
ENST00000569930.2:n.3049_3050insTA
ENST00000642365.1:c.3821_3822insTA
ENST00000642561.1:c.5032-6_5032-5insTA	ENSP00000495099.1:n.5032-6_5032-5insTA
ENST00000642791.1:n.764_765insTA
ENST00000642797.1:c.4969_4970insTA	ENSP00000493846.1:p.Ser1657LeufsTer?
ENST00000642936.1:c.5035_5036insTA	ENSP00000494514.1:p.Ser1679LeufsTer?
ENST00000643088.1:c.4960_4961insTA	ENSP00000494747.1:p.Ser1654LeufsTer?
ENST00000643426.1:n.2815_2816insTA
ENST00000643946.1:c.5092_5093insTA	ENSP00000495927.1:p.Ser1698LeufsTer?
ENST00000644043.1:c.5038_5039insTA	ENSP00000496262.1:p.Ser1680LeufsTer?
ENST00000644329.1:c.5053_5054insTA	ENSP00000496611.1:p.Ser1685LeufsTer?
ENST00000644335.1:c.4963_4964insTA	ENSP00000496317.1:p.Ser1655LeufsTer?
ENST00000644399.1:c.5088_5089insTA
ENST00000645024.1:n.3251_3252insTA
ENST00000646388.1:c.5161_5162insTA	ENSP00000495921.1:p.Ser1721LeufsTer?
ENST00000646634.1:n.3982_3983insTA
ENST00000646674.1:n.2419_2420insTA
ENST00000647042.1:n.2390_2391insTA
ENST00000647180.1:n.2280_2281insTA
ENST00000219476.7:c.5167_5168insTA	ENSP00000219476.3:p.Ser1723LeufsTer?
ENST00000350773.8:c.5098_5099insTA	ENSP00000344383.4:p.Ser1700LeufsTer?
ENST00000382538.10:c.4822_4823insTA	ENSP00000371978.6:p.Ser1608LeufsTer?
ENST00000401874.6:c.4966_4967insTA	ENSP00000384468.2:p.Ser1656LeufsTer?
ENST00000439117.6:c.*4334_*4335insTA	ENSP00000406980.2:n.*4334_*4335insTA
ENST00000439673.6:c.4858_4859insTA	ENSP00000399232.2:p.Ser1620LeufsTer?
ENST00000497886.5:n.2890_2891insTA
ENST00000568454.5:c.4999_5000insTA	ENSP00000454487.1:p.Ser1667LeufsTer?
ENST00000569110.1:c.1349_1350insTA
ENST00000569930.1:n.2282_2283insTA
NM_000548.3:c.5167_5168insTA , LRG_487t1:c.5167_5168insTA	NP_000539.2:p.Ser1723LeufsTer?
NM_001077183.1:c.4966_4967insTA	NP_001070651.1:p.Ser1656LeufsTer?
NM_001114382.1:c.5098_5099insTA	NP_001107854.1:p.Ser1700LeufsTer?
XM_005255529.3:c.5038_5039insTA	XP_005255586.2:p.Ser1680LeufsTer?
XM_005255531.3:c.4969_4970insTA	XP_005255588.2:p.Ser1657LeufsTer?
XM_011522636.1:c.5221_5222insTA	XP_011520938.1:p.Ser1741LeufsTer?
XM_011522637.1:c.5218_5219insTA	XP_011520939.1:p.Ser1740LeufsTer?
XM_011522638.1:c.5110_5111insTA	XP_011520940.1:p.Ser1704LeufsTer?
XM_011522639.1:c.5092_5093insTA	XP_011520941.1:p.Ser1698LeufsTer?
XM_011522640.1:c.5089_5090insTA	XP_011520942.1:p.Ser1697LeufsTer?
XM_011522641.1:c.4858_4859insTA	XP_011520943.1:p.Ser1620LeufsTer?
NM_000548.4:c.5167_5168insTA	NP_000539.2:p.Ser1723LeufsTer?
NM_001077183.2:c.4966_4967insTA	NP_001070651.1:p.Ser1656LeufsTer?
NM_001114382.2:c.5098_5099insTA	NP_001107854.1:p.Ser1700LeufsTer?
NM_001318827.1:c.4858_4859insTA	NP_001305756.1:p.Ser1620LeufsTer?
NM_001318829.1:c.4822_4823insTA	NP_001305758.1:p.Ser1608LeufsTer?
NM_001318831.1:c.4435_4436insTA	NP_001305760.1:p.Ser1479LeufsTer?
NM_001318832.1:c.4999_5000insTA	NP_001305761.1:p.Ser1667LeufsTer?
NM_001363528.1:c.4969_4970insTA	NP_001350457.1:p.Ser1657LeufsTer?
NM_021055.2:c.5038_5039insTA	NP_066399.2:p.Ser1680LeufsTer?
XM_005255531.4:c.4969_4970insTA	XP_005255588.2:p.Ser1657LeufsTer?
XM_011522636.2:c.5221_5222insTA	XP_011520938.1:p.Ser1741LeufsTer?
XM_011522637.2:c.5218_5219insTA	XP_011520939.1:p.Ser1740LeufsTer?
XM_011522638.2:c.5383_5384insTA	XP_011520940.2:p.Ser1795LeufsTer?
XM_011522639.2:c.5092_5093insTA	XP_011520941.1:p.Ser1698LeufsTer?
XM_011522640.2:c.5089_5090insTA	XP_011520942.1:p.Ser1697LeufsTer?
XM_017023615.1:c.5164_5165insTA	XP_016879104.1:p.Ser1722LeufsTer?
XM_017023616.1:c.5035_5036insTA	XP_016879105.1:p.Ser1679LeufsTer?
XM_017023617.1:c.5131_5132insTA	XP_016879106.1:p.Ser1711LeufsTer?
XM_017023618.1:c.3877_3878insTA	XP_016879107.1:p.Ser1293LeufsTer?
XM_024450413.1:c.5053_5054insTA	XP_024306181.1:p.Ser1685LeufsTer?
NM_000548.5:c.5167_5168insTA MANE Select	NP_000539.2:p.Ser1723LeufsTer?
NM_001370404.1:c.5035_5036insTA	NP_001357333.1:p.Ser1679LeufsTer?
NM_001370405.1:c.5032-6_5032-5insTA	NP_001357334.1:n.5032-6_5032-5insTA
NM_001077183.3:c.4966_4967insTA	NP_001070651.1:p.Ser1656LeufsTer?
NM_001114382.3:c.5098_5099insTA	NP_001107854.1:p.Ser1700LeufsTer?
NM_001318827.2:c.4858_4859insTA	NP_001305756.1:p.Ser1620LeufsTer?
NM_001318829.2:c.4822_4823insTA	NP_001305758.1:p.Ser1608LeufsTer?
NM_001318831.2:c.4435_4436insTA	NP_001305760.1:p.Ser1479LeufsTer?
NM_001318832.2:c.4999_5000insTA	NP_001305761.1:p.Ser1667LeufsTer?
NM_001363528.2:c.4969_4970insTA	NP_001350457.1:p.Ser1657LeufsTer?
NM_021055.3:c.5038_5039insTA	NP_066399.2:p.Ser1680LeufsTer?