Canonical Allele Identifier: CA645573340

Gene: TSC2

Linked Data

• COSMIC: COSM4517907 ; COSM4517908

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085272_2085273delinsAT , CM000678.2:g.2085272_2085273delinsAT	GRCh38
NC_000016.9:g.2135273_2135274delinsAT , CM000678.1:g.2135273_2135274delinsAT	GRCh37
NC_000016.8:g.2075274_2075275delinsAT	NCBI36
NG_005895.1:g.40967_40968delinsAT , LRG_487:g.40967_40968delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2961_*2962delinsAT	ENSP00000455997.2:n.*2961_*2962delinsAT
ENST00000642206.2:c.4459_4460delinsAT	ENSP00000495146.2:p.Pro1487Ile
ENST00000642365.2:c.4609_4610delinsAT	ENSP00000495459.2:p.Pro1537Ile
ENST00000644417.2:c.*4992_*4993delinsAT	ENSP00000493912.2:n.*4992_*4993delinsAT
ENST00000646464.2:c.*7361_*7362delinsAT	ENSP00000496610.2:n.*7361_*7362delinsAT
ENST00000219476.9:c.4612_4613delinsAT MANE Select	ENSP00000219476.3:p.Pro1538Ile
ENST00000350773.9:c.4543_4544delinsAT	ENSP00000344383.4:p.Pro1515Ile
ENST00000401874.7:c.4411_4412delinsAT	ENSP00000384468.2:p.Pro1471Ile
ENST00000568454.6:c.4444_4445delinsAT	ENSP00000454487.1:p.Pro1482Ile
ENST00000569110.2:c.835_836delinsAT
ENST00000569930.2:n.2494_2495delinsAT
ENST00000642365.1:c.3266_3267delinsAT
ENST00000642561.1:c.4483_4484delinsAT	ENSP00000495099.1:p.Pro1495Ile
ENST00000642728.1:n.794_795delinsAT
ENST00000642791.1:n.209_210delinsAT
ENST00000642797.1:c.4414_4415delinsAT	ENSP00000493846.1:p.Pro1472Ile
ENST00000642936.1:c.4480_4481delinsAT	ENSP00000494514.1:p.Pro1494Ile
ENST00000643088.1:c.4405_4406delinsAT	ENSP00000494747.1:p.Pro1469Ile
ENST00000643177.1:n.626_627delinsAT
ENST00000643426.1:n.2260_2261delinsAT
ENST00000643946.1:c.4537_4538delinsAT	ENSP00000495927.1:p.Pro1513Ile
ENST00000644043.1:c.4483_4484delinsAT	ENSP00000496262.1:p.Pro1495Ile
ENST00000644278.1:n.94_95delinsAT
ENST00000644329.1:c.4411_4412delinsAT	ENSP00000496611.1:p.Pro1471Ile
ENST00000644335.1:c.4408_4409delinsAT	ENSP00000496317.1:p.Pro1470Ile
ENST00000644399.1:c.4533_4534delinsAT
ENST00000645024.1:n.2696_2697delinsAT
ENST00000646388.1:c.4606_4607delinsAT	ENSP00000495921.1:p.Pro1536Ile
ENST00000646634.1:n.3427_3428delinsAT
ENST00000646674.1:n.1864_1865delinsAT
ENST00000647042.1:n.1835_1836delinsAT
ENST00000647180.1:n.1725_1726delinsAT
ENST00000219476.7:c.4612_4613delinsAT	ENSP00000219476.3:p.Pro1538Ile
ENST00000350773.8:c.4543_4544delinsAT	ENSP00000344383.4:p.Pro1515Ile
ENST00000382538.10:c.4267_4268delinsAT	ENSP00000371978.6:p.Pro1423Ile
ENST00000401874.6:c.4411_4412delinsAT	ENSP00000384468.2:p.Pro1471Ile
ENST00000439117.6:c.*3779_*3780delinsAT	ENSP00000406980.2:n.*3779_*3780delinsAT
ENST00000439673.6:c.4303_4304delinsAT	ENSP00000399232.2:p.Pro1435Ile
ENST00000497886.5:n.2370_2371delinsAT
ENST00000568454.5:c.4444_4445delinsAT	ENSP00000454487.1:p.Pro1482Ile
ENST00000569110.1:c.794_795delinsAT
ENST00000569930.1:n.1727_1728delinsAT
NM_000548.3:c.4612_4613delinsAT , LRG_487t1:c.4612_4613delinsAT	NP_000539.2:p.Pro1538Ile
NM_001077183.1:c.4411_4412delinsAT	NP_001070651.1:p.Pro1471Ile
NM_001114382.1:c.4543_4544delinsAT	NP_001107854.1:p.Pro1515Ile
XM_005255529.3:c.4483_4484delinsAT	XP_005255586.2:p.Pro1495Ile
XM_005255531.3:c.4414_4415delinsAT	XP_005255588.2:p.Pro1472Ile
XM_011522636.1:c.4666_4667delinsAT	XP_011520938.1:p.Pro1556Ile
XM_011522637.1:c.4663_4664delinsAT	XP_011520939.1:p.Pro1555Ile
XM_011522638.1:c.4555_4556delinsAT	XP_011520940.1:p.Pro1519Ile
XM_011522639.1:c.4537_4538delinsAT	XP_011520941.1:p.Pro1513Ile
XM_011522640.1:c.4534_4535delinsAT	XP_011520942.1:p.Pro1512Ile
XM_011522641.1:c.4303_4304delinsAT	XP_011520943.1:p.Pro1435Ile
NM_000548.4:c.4612_4613delinsAT	NP_000539.2:p.Pro1538Ile
NM_001077183.2:c.4411_4412delinsAT	NP_001070651.1:p.Pro1471Ile
NM_001114382.2:c.4543_4544delinsAT	NP_001107854.1:p.Pro1515Ile
NM_001318827.1:c.4303_4304delinsAT	NP_001305756.1:p.Pro1435Ile
NM_001318829.1:c.4267_4268delinsAT	NP_001305758.1:p.Pro1423Ile
NM_001318831.1:c.3880_3881delinsAT	NP_001305760.1:p.Pro1294Ile
NM_001318832.1:c.4444_4445delinsAT	NP_001305761.1:p.Pro1482Ile
NM_001363528.1:c.4414_4415delinsAT	NP_001350457.1:p.Pro1472Ile
NM_021055.2:c.4483_4484delinsAT	NP_066399.2:p.Pro1495Ile
XM_005255531.4:c.4414_4415delinsAT	XP_005255588.2:p.Pro1472Ile
XM_011522636.2:c.4666_4667delinsAT	XP_011520938.1:p.Pro1556Ile
XM_011522637.2:c.4663_4664delinsAT	XP_011520939.1:p.Pro1555Ile
XM_011522638.2:c.4828_4829delinsAT	XP_011520940.2:p.Pro1610Ile
XM_011522639.2:c.4537_4538delinsAT	XP_011520941.1:p.Pro1513Ile
XM_011522640.2:c.4534_4535delinsAT	XP_011520942.1:p.Pro1512Ile
XM_017023615.1:c.4609_4610delinsAT	XP_016879104.1:p.Pro1537Ile
XM_017023616.1:c.4480_4481delinsAT	XP_016879105.1:p.Pro1494Ile
XM_017023617.1:c.4576_4577delinsAT	XP_016879106.1:p.Pro1526Ile
XM_017023618.1:c.3322_3323delinsAT	XP_016879107.1:p.Pro1108Ile
XM_024450413.1:c.4411_4412delinsAT	XP_024306181.1:p.Pro1471Ile
NM_000548.5:c.4612_4613delinsAT MANE Select	NP_000539.2:p.Pro1538Ile
NM_001370404.1:c.4480_4481delinsAT	NP_001357333.1:p.Pro1494Ile
NM_001370405.1:c.4483_4484delinsAT	NP_001357334.1:p.Pro1495Ile
NM_001077183.3:c.4411_4412delinsAT	NP_001070651.1:p.Pro1471Ile
NM_001114382.3:c.4543_4544delinsAT	NP_001107854.1:p.Pro1515Ile
NM_001318827.2:c.4303_4304delinsAT	NP_001305756.1:p.Pro1435Ile
NM_001318829.2:c.4267_4268delinsAT	NP_001305758.1:p.Pro1423Ile
NM_001318831.2:c.3880_3881delinsAT	NP_001305760.1:p.Pro1294Ile
NM_001318832.2:c.4444_4445delinsAT	NP_001305761.1:p.Pro1482Ile
NM_001363528.2:c.4414_4415delinsAT	NP_001350457.1:p.Pro1472Ile
NM_021055.3:c.4483_4484delinsAT	NP_066399.2:p.Pro1495Ile