Canonical Allele Identifier: CA2202033986

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088524_2088526delinsACT , CM000678.2:g.2088524_2088526delinsACT	GRCh38
NC_000016.9:g.2138525_2138527delinsACT , CM000678.1:g.2138525_2138527delinsACT	GRCh37
NC_000016.8:g.2078526_2078528delinsACT	NCBI36
NG_005895.1:g.44219_44221delinsACT , LRG_487:g.44219_44221delinsACT
NG_008617.1:g.54695_54697delinsAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3687_*3689delinsACT	ENSP00000455997.2:n.*3687_*3689delinsACT
ENST00000642206.2:c.5185_5187delinsACT	ENSP00000495146.2:p.Thr1729=
ENST00000642365.2:c.5335_5337delinsACT	ENSP00000495459.2:p.Thr1779=
ENST00000644417.2:c.*5851_*5853delinsACT	ENSP00000493912.2:n.*5851_*5853delinsACT
ENST00000646464.2:c.*8087_*8089delinsACT	ENSP00000496610.2:n.*8087_*8089delinsACT
ENST00000219476.9:c.5338_5340delinsACT MANE Select	ENSP00000219476.3:p.Thr1780=
ENST00000350773.9:c.5269_5271delinsACT	ENSP00000344383.4:p.Thr1757=
ENST00000401874.7:c.5137_5139delinsACT	ENSP00000384468.2:p.Thr1713=
ENST00000568454.6:c.5170_5172delinsACT	ENSP00000454487.1:p.Thr1724=
ENST00000569110.2:c.1561_1563delinsACT
ENST00000569930.2:n.3220_3222delinsACT
ENST00000642365.1:c.3992_3994delinsACT
ENST00000642561.1:c.5197_5199delinsACT	ENSP00000495099.1:p.Thr1733=
ENST00000642791.1:n.935_937delinsACT
ENST00000642797.1:c.5140_5142delinsACT	ENSP00000493846.1:p.Thr1714=
ENST00000642936.1:c.5206_5208delinsACT	ENSP00000494514.1:p.Thr1736=
ENST00000643088.1:c.5131_5133delinsACT	ENSP00000494747.1:p.Thr1711=
ENST00000643426.1:n.2986_2988delinsACT
ENST00000643946.1:c.5263_5265delinsACT	ENSP00000495927.1:p.Thr1755=
ENST00000644043.1:c.5209_5211delinsACT	ENSP00000496262.1:p.Thr1737=
ENST00000644329.1:c.5224_5226delinsACT	ENSP00000496611.1:p.Thr1742=
ENST00000644335.1:c.5134_5136delinsACT	ENSP00000496317.1:p.Thr1712=
ENST00000644399.1:c.5259_5261delinsACT
ENST00000645024.1:n.3422_3424delinsACT
ENST00000646388.1:c.5332_5334delinsACT	ENSP00000495921.1:p.Thr1778=
ENST00000646634.1:n.4153_4155delinsACT
ENST00000646674.1:n.2590_2592delinsACT
ENST00000647042.1:n.2561_2563delinsACT
ENST00000647180.1:n.2451_2453delinsACT
ENST00000219476.7:c.5338_5340delinsACT	ENSP00000219476.3:p.Thr1780=
ENST00000350773.8:c.5269_5271delinsACT	ENSP00000344383.4:p.Thr1757=
ENST00000382538.10:c.4993_4995delinsACT	ENSP00000371978.6:p.Thr1665=
ENST00000401874.6:c.5137_5139delinsACT	ENSP00000384468.2:p.Thr1713=
ENST00000439117.6:c.*4505_*4507delinsACT	ENSP00000406980.2:n.*4505_*4507delinsACT
ENST00000439673.6:c.5029_5031delinsACT	ENSP00000399232.2:p.Thr1677=
ENST00000497886.5:n.3061_3063delinsACT
ENST00000568454.5:c.5170_5172delinsACT	ENSP00000454487.1:p.Thr1724=
ENST00000569110.1:c.1520_1522delinsACT
ENST00000569930.1:n.2453_2455delinsACT
NM_000548.3:c.5338_5340delinsACT , LRG_487t1:c.5338_5340delinsACT	NP_000539.2:p.Thr1780=
NM_001077183.1:c.5137_5139delinsACT	NP_001070651.1:p.Thr1713=
NM_001114382.1:c.5269_5271delinsACT	NP_001107854.1:p.Thr1757=
XM_005255529.3:c.5209_5211delinsACT	XP_005255586.2:p.Thr1737=
XM_005255531.3:c.5140_5142delinsACT	XP_005255588.2:p.Thr1714=
XM_011522636.1:c.5392_5394delinsACT	XP_011520938.1:p.Thr1798=
XM_011522637.1:c.5389_5391delinsACT	XP_011520939.1:p.Thr1797=
XM_011522638.1:c.5281_5283delinsACT	XP_011520940.1:p.Thr1761=
XM_011522639.1:c.5263_5265delinsACT	XP_011520941.1:p.Thr1755=
XM_011522640.1:c.5260_5262delinsACT	XP_011520942.1:p.Thr1754=
XM_011522641.1:c.5029_5031delinsACT	XP_011520943.1:p.Thr1677=
NM_000548.4:c.5338_5340delinsACT	NP_000539.2:p.Thr1780=
NM_001077183.2:c.5137_5139delinsACT	NP_001070651.1:p.Thr1713=
NM_001114382.2:c.5269_5271delinsACT	NP_001107854.1:p.Thr1757=
NM_001318827.1:c.5029_5031delinsACT	NP_001305756.1:p.Thr1677=
NM_001318829.1:c.4993_4995delinsACT	NP_001305758.1:p.Thr1665=
NM_001318831.1:c.4606_4608delinsACT	NP_001305760.1:p.Thr1536=
NM_001318832.1:c.5170_5172delinsACT	NP_001305761.1:p.Thr1724=
NM_001363528.1:c.5140_5142delinsACT	NP_001350457.1:p.Thr1714=
NM_021055.2:c.5209_5211delinsACT	NP_066399.2:p.Thr1737=
XM_005255531.4:c.5140_5142delinsACT	XP_005255588.2:p.Thr1714=
XM_011522636.2:c.5392_5394delinsACT	XP_011520938.1:p.Thr1798=
XM_011522637.2:c.5389_5391delinsACT	XP_011520939.1:p.Thr1797=
XM_011522638.2:c.5554_5556delinsACT	XP_011520940.2:p.Thr1852=
XM_011522639.2:c.5263_5265delinsACT	XP_011520941.1:p.Thr1755=
XM_011522640.2:c.5260_5262delinsACT	XP_011520942.1:p.Thr1754=
XM_017023615.1:c.5335_5337delinsACT	XP_016879104.1:p.Thr1779=
XM_017023616.1:c.5206_5208delinsACT	XP_016879105.1:p.Thr1736=
XM_017023617.1:c.5302_5304delinsACT	XP_016879106.1:p.Thr1768=
XM_017023618.1:c.4048_4050delinsACT	XP_016879107.1:p.Thr1350=
XM_024450413.1:c.5224_5226delinsACT	XP_024306181.1:p.Thr1742=
NM_000548.5:c.5338_5340delinsACT MANE Select	NP_000539.2:p.Thr1780=
NM_001370404.1:c.5206_5208delinsACT	NP_001357333.1:p.Thr1736=
NM_001370405.1:c.5197_5199delinsACT	NP_001357334.1:p.Thr1733=
NM_001077183.3:c.5137_5139delinsACT	NP_001070651.1:p.Thr1713=
NM_001114382.3:c.5269_5271delinsACT	NP_001107854.1:p.Thr1757=
NM_001318827.2:c.5029_5031delinsACT	NP_001305756.1:p.Thr1677=
NM_001318829.2:c.4993_4995delinsACT	NP_001305758.1:p.Thr1665=
NM_001318831.2:c.4606_4608delinsACT	NP_001305760.1:p.Thr1536=
NM_001318832.2:c.5170_5172delinsACT	NP_001305761.1:p.Thr1724=
NM_001363528.2:c.5140_5142delinsACT	NP_001350457.1:p.Thr1714=
NM_021055.3:c.5209_5211delinsACT	NP_066399.2:p.Thr1737=