Canonical Allele Identifier: CA645294082
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426522
ClinVar RCV Id: RCV000489676
dbSNP Id: rs1085307666
MyVariant Identifiers: chr16:g.2138576_2138579dup (hg19) chr16:g.2088575_2088578dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088575_2088578dup , CM000678.2:g.2088575_2088578dup GRCh38
NC_000016.9:g.2138576_2138579dup , CM000678.1:g.2138576_2138579dup GRCh37
NC_000016.8:g.2078577_2078580dup NCBI36
NG_005895.1:g.44270_44273dup , LRG_487:g.44270_44273dup
NG_008617.1:g.54643_54646dup

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*3738_*3741dup ENSP00000455997.2:n.*3738_*3741dup
ENST00000642206.2:c.5236_5239dup ENSP00000495146.2:p.Ser1747TyrfsTer?
ENST00000642365.2:c.5386_5389dup ENSP00000495459.2:p.Ser1797TyrfsTer?
ENST00000644417.2:c.*5902_*5905dup ENSP00000493912.2:n.*5902_*5905dup
ENST00000646464.2:c.*8138_*8141dup ENSP00000496610.2:n.*8138_*8141dup
ENST00000219476.9:c.5389_5392dup MANE Select ENSP00000219476.3:p.Ser1798TyrfsTer?
ENST00000350773.9:c.5320_5323dup ENSP00000344383.4:p.Ser1775TyrfsTer?
ENST00000401874.7:c.5188_5191dup ENSP00000384468.2:p.Ser1731TyrfsTer?
ENST00000568454.6:c.5221_5224dup ENSP00000454487.1:p.Ser1742TyrfsTer?
ENST00000569110.2:c.1612_1615dup
ENST00000569930.2:n.3271_3274dup
ENST00000642365.1:c.4043_4046dup
ENST00000642561.1:c.5248_5251dup ENSP00000495099.1:p.Ser1751TyrfsTer?
ENST00000642791.1:n.986_989dup
ENST00000642797.1:c.5191_5194dup ENSP00000493846.1:p.Ser1732TyrfsTer?
ENST00000642936.1:c.5257_5260dup ENSP00000494514.1:p.Ser1754TyrfsTer?
ENST00000643088.1:c.5182_5185dup ENSP00000494747.1:p.Ser1729TyrfsTer?
ENST00000643426.1:n.3037_3040dup
ENST00000643946.1:c.5314_5317dup ENSP00000495927.1:p.Ser1773TyrfsTer?
ENST00000644043.1:c.5260_5263dup ENSP00000496262.1:p.Ser1755TyrfsTer?
ENST00000644329.1:c.5275_5278dup ENSP00000496611.1:p.Ser1760TyrfsTer?
ENST00000644335.1:c.5185_5188dup ENSP00000496317.1:p.Ser1730TyrfsTer?
ENST00000644399.1:c.5310_5313dup
ENST00000646388.1:c.5383_5386dup ENSP00000495921.1:p.Ser1796TyrfsTer?
ENST00000646634.1:n.4204_4207dup
ENST00000646674.1:n.2641_2644dup
ENST00000647042.1:n.2612_2615dup
ENST00000647180.1:n.2502_2505dup
ENST00000219476.7:c.5389_5392dup ENSP00000219476.3:p.Ser1798TyrfsTer?
ENST00000350773.8:c.5320_5323dup ENSP00000344383.4:p.Ser1775TyrfsTer?
ENST00000382538.10:c.5044_5047dup ENSP00000371978.6:p.Ser1683TyrfsTer?
ENST00000401874.6:c.5188_5191dup ENSP00000384468.2:p.Ser1731TyrfsTer?
ENST00000439117.6:c.*4556_*4559dup ENSP00000406980.2:n.*4556_*4559dup
ENST00000439673.6:c.5080_5083dup ENSP00000399232.2:p.Ser1695TyrfsTer?
ENST00000497886.5:n.3112_3115dup
ENST00000568454.5:c.5221_5224dup ENSP00000454487.1:p.Ser1742TyrfsTer?
ENST00000569110.1:c.1571_1574dup
ENST00000569930.1:n.2504_2507dup
NM_000548.3:c.5389_5392dup , LRG_487t1:c.5389_5392dup NP_000539.2:p.Ser1798TyrfsTer?
NM_001077183.1:c.5188_5191dup NP_001070651.1:p.Ser1731TyrfsTer?
NM_001114382.1:c.5320_5323dup NP_001107854.1:p.Ser1775TyrfsTer?
XM_005255529.3:c.5260_5263dup XP_005255586.2:p.Ser1755TyrfsTer?
XM_005255531.3:c.5191_5194dup XP_005255588.2:p.Ser1732TyrfsTer?
XM_011522636.1:c.5443_5446dup XP_011520938.1:p.Ser1816TyrfsTer?
XM_011522637.1:c.5440_5443dup XP_011520939.1:p.Ser1815TyrfsTer?
XM_011522638.1:c.5332_5335dup XP_011520940.1:p.Ser1779TyrfsTer?
XM_011522639.1:c.5314_5317dup XP_011520941.1:p.Ser1773TyrfsTer?
XM_011522640.1:c.5311_5314dup XP_011520942.1:p.Ser1772TyrfsTer?
XM_011522641.1:c.5080_5083dup XP_011520943.1:p.Ser1695TyrfsTer?
NM_000548.4:c.5389_5392dup NP_000539.2:p.Ser1798TyrfsTer?
NM_001077183.2:c.5188_5191dup NP_001070651.1:p.Ser1731TyrfsTer?
NM_001114382.2:c.5320_5323dup NP_001107854.1:p.Ser1775TyrfsTer?
NM_001318827.1:c.5080_5083dup NP_001305756.1:p.Ser1695TyrfsTer?
NM_001318829.1:c.5044_5047dup NP_001305758.1:p.Ser1683TyrfsTer?
NM_001318831.1:c.4657_4660dup NP_001305760.1:p.Ser1554TyrfsTer?
NM_001318832.1:c.5221_5224dup NP_001305761.1:p.Ser1742TyrfsTer?
NM_001363528.1:c.5191_5194dup NP_001350457.1:p.Ser1732TyrfsTer?
NM_021055.2:c.5260_5263dup NP_066399.2:p.Ser1755TyrfsTer?
XM_005255531.4:c.5191_5194dup XP_005255588.2:p.Ser1732TyrfsTer?
XM_011522636.2:c.5443_5446dup XP_011520938.1:p.Ser1816TyrfsTer?
XM_011522637.2:c.5440_5443dup XP_011520939.1:p.Ser1815TyrfsTer?
XM_011522638.2:c.5605_5608dup XP_011520940.2:p.Ser1870TyrfsTer?
XM_011522639.2:c.5314_5317dup XP_011520941.1:p.Ser1773TyrfsTer?
XM_011522640.2:c.5311_5314dup XP_011520942.1:p.Ser1772TyrfsTer?
XM_017023615.1:c.5386_5389dup XP_016879104.1:p.Ser1797TyrfsTer?
XM_017023616.1:c.5257_5260dup XP_016879105.1:p.Ser1754TyrfsTer?
XM_017023617.1:c.5353_5356dup XP_016879106.1:p.Ser1786TyrfsTer?
XM_017023618.1:c.4099_4102dup XP_016879107.1:p.Ser1368TyrfsTer?
XM_024450413.1:c.5275_5278dup XP_024306181.1:p.Ser1760TyrfsTer?
NM_000548.5:c.5389_5392dup MANE Select NP_000539.2:p.Ser1798TyrfsTer?
NM_001370404.1:c.5257_5260dup NP_001357333.1:p.Ser1754TyrfsTer?
NM_001370405.1:c.5248_5251dup NP_001357334.1:p.Ser1751TyrfsTer?
NM_001077183.3:c.5188_5191dup NP_001070651.1:p.Ser1731TyrfsTer?
NM_001114382.3:c.5320_5323dup NP_001107854.1:p.Ser1775TyrfsTer?
NM_001318827.2:c.5080_5083dup NP_001305756.1:p.Ser1695TyrfsTer?
NM_001318829.2:c.5044_5047dup NP_001305758.1:p.Ser1683TyrfsTer?
NM_001318831.2:c.4657_4660dup NP_001305760.1:p.Ser1554TyrfsTer?
NM_001318832.2:c.5221_5224dup NP_001305761.1:p.Ser1742TyrfsTer?
NM_001363528.2:c.5191_5194dup NP_001350457.1:p.Ser1732TyrfsTer?
NM_021055.3:c.5260_5263dup NP_066399.2:p.Ser1755TyrfsTer?
Search 100 bp 5'
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