Canonical Allele Identifier: CA2739265847

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2848348
• ClinVar RCV Id: RCV003628507

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085260_2085262del , CM000678.2:g.2085260_2085262del	GRCh38
NC_000016.9:g.2135261_2135263del , CM000678.1:g.2135261_2135263del	GRCh37
NC_000016.8:g.2075262_2075264del	NCBI36
NG_005895.1:g.40955_40957del , LRG_487:g.40955_40957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2949_*2951del	ENSP00000455997.2:n.*2949_*2951del
ENST00000642206.2:c.4447_4449del	ENSP00000495146.2:p.Leu1483del
ENST00000642365.2:c.4597_4599del	ENSP00000495459.2:p.Leu1533del
ENST00000644417.2:c.*4980_*4982del	ENSP00000493912.2:n.*4980_*4982del
ENST00000646464.2:c.*7349_*7351del	ENSP00000496610.2:n.*7349_*7351del
ENST00000219476.9:c.4600_4602del MANE Select	ENSP00000219476.3:p.Leu1534del
ENST00000350773.9:c.4531_4533del	ENSP00000344383.4:p.Leu1511del
ENST00000401874.7:c.4399_4401del	ENSP00000384468.2:p.Leu1467del
ENST00000568454.6:c.4432_4434del	ENSP00000454487.1:p.Leu1478del
ENST00000569110.2:c.823_825del
ENST00000569930.2:n.2482_2484del
ENST00000642365.1:c.3254_3256del
ENST00000642561.1:c.4471_4473del	ENSP00000495099.1:p.Leu1491del
ENST00000642728.1:n.782_784del
ENST00000642791.1:n.197_199del
ENST00000642797.1:c.4402_4404del	ENSP00000493846.1:p.Leu1468del
ENST00000642936.1:c.4468_4470del	ENSP00000494514.1:p.Leu1490del
ENST00000643088.1:c.4393_4395del	ENSP00000494747.1:p.Leu1465del
ENST00000643177.1:n.614_616del
ENST00000643426.1:n.2248_2250del
ENST00000643946.1:c.4525_4527del	ENSP00000495927.1:p.Leu1509del
ENST00000644043.1:c.4471_4473del	ENSP00000496262.1:p.Leu1491del
ENST00000644278.1:n.82_84del
ENST00000644329.1:c.4399_4401del	ENSP00000496611.1:p.Leu1467del
ENST00000644335.1:c.4396_4398del	ENSP00000496317.1:p.Leu1466del
ENST00000644399.1:c.4521_4523del
ENST00000645024.1:n.2684_2686del
ENST00000646388.1:c.4594_4596del	ENSP00000495921.1:p.Leu1532del
ENST00000646634.1:n.3415_3417del
ENST00000646674.1:n.1852_1854del
ENST00000647042.1:n.1823_1825del
ENST00000647180.1:n.1713_1715del
ENST00000219476.7:c.4600_4602del	ENSP00000219476.3:p.Leu1534del
ENST00000350773.8:c.4531_4533del	ENSP00000344383.4:p.Leu1511del
ENST00000382538.10:c.4255_4257del	ENSP00000371978.6:p.Leu1419del
ENST00000401874.6:c.4399_4401del	ENSP00000384468.2:p.Leu1467del
ENST00000439117.6:c.*3767_*3769del	ENSP00000406980.2:n.*3767_*3769del
ENST00000439673.6:c.4291_4293del	ENSP00000399232.2:p.Leu1431del
ENST00000497886.5:n.2358_2360del
ENST00000568454.5:c.4432_4434del	ENSP00000454487.1:p.Leu1478del
ENST00000569110.1:c.782_784del
ENST00000569930.1:n.1715_1717del
NM_000548.3:c.4600_4602del , LRG_487t1:c.4600_4602del	NP_000539.2:p.Leu1534del
NM_001077183.1:c.4399_4401del	NP_001070651.1:p.Leu1467del
NM_001114382.1:c.4531_4533del	NP_001107854.1:p.Leu1511del
XM_005255529.3:c.4471_4473del	XP_005255586.2:p.Leu1491del
XM_005255531.3:c.4402_4404del	XP_005255588.2:p.Leu1468del
XM_011522636.1:c.4654_4656del	XP_011520938.1:p.Leu1552del
XM_011522637.1:c.4651_4653del	XP_011520939.1:p.Leu1551del
XM_011522638.1:c.4543_4545del	XP_011520940.1:p.Leu1515del
XM_011522639.1:c.4525_4527del	XP_011520941.1:p.Leu1509del
XM_011522640.1:c.4522_4524del	XP_011520942.1:p.Leu1508del
XM_011522641.1:c.4291_4293del	XP_011520943.1:p.Leu1431del
NM_000548.4:c.4600_4602del	NP_000539.2:p.Leu1534del
NM_001077183.2:c.4399_4401del	NP_001070651.1:p.Leu1467del
NM_001114382.2:c.4531_4533del	NP_001107854.1:p.Leu1511del
NM_001318827.1:c.4291_4293del	NP_001305756.1:p.Leu1431del
NM_001318829.1:c.4255_4257del	NP_001305758.1:p.Leu1419del
NM_001318831.1:c.3868_3870del	NP_001305760.1:p.Leu1290del
NM_001318832.1:c.4432_4434del	NP_001305761.1:p.Leu1478del
NM_001363528.1:c.4402_4404del	NP_001350457.1:p.Leu1468del
NM_021055.2:c.4471_4473del	NP_066399.2:p.Leu1491del
XM_005255531.4:c.4402_4404del	XP_005255588.2:p.Leu1468del
XM_011522636.2:c.4654_4656del	XP_011520938.1:p.Leu1552del
XM_011522637.2:c.4651_4653del	XP_011520939.1:p.Leu1551del
XM_011522638.2:c.4816_4818del	XP_011520940.2:p.Leu1606del
XM_011522639.2:c.4525_4527del	XP_011520941.1:p.Leu1509del
XM_011522640.2:c.4522_4524del	XP_011520942.1:p.Leu1508del
XM_017023615.1:c.4597_4599del	XP_016879104.1:p.Leu1533del
XM_017023616.1:c.4468_4470del	XP_016879105.1:p.Leu1490del
XM_017023617.1:c.4564_4566del	XP_016879106.1:p.Leu1522del
XM_017023618.1:c.3310_3312del	XP_016879107.1:p.Leu1104del
XM_024450413.1:c.4399_4401del	XP_024306181.1:p.Leu1467del
NM_000548.5:c.4600_4602del MANE Select	NP_000539.2:p.Leu1534del
NM_001370404.1:c.4468_4470del	NP_001357333.1:p.Leu1490del
NM_001370405.1:c.4471_4473del	NP_001357334.1:p.Leu1491del
NM_001077183.3:c.4399_4401del	NP_001070651.1:p.Leu1467del
NM_001114382.3:c.4531_4533del	NP_001107854.1:p.Leu1511del
NM_001318827.2:c.4291_4293del	NP_001305756.1:p.Leu1431del
NM_001318829.2:c.4255_4257del	NP_001305758.1:p.Leu1419del
NM_001318831.2:c.3868_3870del	NP_001305760.1:p.Leu1290del
NM_001318832.2:c.4432_4434del	NP_001305761.1:p.Leu1478del
NM_001363528.2:c.4402_4404del	NP_001350457.1:p.Leu1468del
NM_021055.3:c.4471_4473del	NP_066399.2:p.Leu1491del