Canonical Allele Identifier: CA2580091208

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1977864
• ClinVar RCV Id: RCV002736837

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088575_2088577dup , CM000678.2:g.2088575_2088577dup	GRCh38
NC_000016.9:g.2138576_2138578dup , CM000678.1:g.2138576_2138578dup	GRCh37
NC_000016.8:g.2078577_2078579dup	NCBI36
NG_005895.1:g.44270_44272dup , LRG_487:g.44270_44272dup
NG_008617.1:g.54646_54648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3738_*3740dup	ENSP00000455997.2:n.*3738_*3740dup
ENST00000642206.2:c.5236_5238dup	ENSP00000495146.2:p.Ile1746_Ser1747insIle
ENST00000642365.2:c.5386_5388dup	ENSP00000495459.2:p.Ile1796_Ser1797insIle
ENST00000644417.2:c.*5902_*5904dup	ENSP00000493912.2:n.*5902_*5904dup
ENST00000646464.2:c.*8138_*8140dup	ENSP00000496610.2:n.*8138_*8140dup
ENST00000219476.9:c.5389_5391dup MANE Select	ENSP00000219476.3:p.Ile1797_Ser1798insIle
ENST00000350773.9:c.5320_5322dup	ENSP00000344383.4:p.Ile1774_Ser1775insIle
ENST00000401874.7:c.5188_5190dup	ENSP00000384468.2:p.Ile1730_Ser1731insIle
ENST00000568454.6:c.5221_5223dup	ENSP00000454487.1:p.Ile1741_Ser1742insIle
ENST00000569110.2:c.1612_1614dup
ENST00000569930.2:n.3271_3273dup
ENST00000642365.1:c.4043_4045dup
ENST00000642561.1:c.5248_5250dup	ENSP00000495099.1:p.Ile1750_Ser1751insIle
ENST00000642791.1:n.986_988dup
ENST00000642797.1:c.5191_5193dup	ENSP00000493846.1:p.Ile1731_Ser1732insIle
ENST00000642936.1:c.5257_5259dup	ENSP00000494514.1:p.Ile1753_Ser1754insIle
ENST00000643088.1:c.5182_5184dup	ENSP00000494747.1:p.Ile1728_Ser1729insIle
ENST00000643426.1:n.3037_3039dup
ENST00000643946.1:c.5314_5316dup	ENSP00000495927.1:p.Ile1772_Ser1773insIle
ENST00000644043.1:c.5260_5262dup	ENSP00000496262.1:p.Ile1754_Ser1755insIle
ENST00000644329.1:c.5275_5277dup	ENSP00000496611.1:p.Ile1759_Ser1760insIle
ENST00000644335.1:c.5185_5187dup	ENSP00000496317.1:p.Ile1729_Ser1730insIle
ENST00000644399.1:c.5310_5312dup
ENST00000646388.1:c.5383_5385dup	ENSP00000495921.1:p.Ile1795_Ser1796insIle
ENST00000646634.1:n.4204_4206dup
ENST00000646674.1:n.2641_2643dup
ENST00000647042.1:n.2612_2614dup
ENST00000647180.1:n.2502_2504dup
ENST00000219476.7:c.5389_5391dup	ENSP00000219476.3:p.Ile1797_Ser1798insIle
ENST00000350773.8:c.5320_5322dup	ENSP00000344383.4:p.Ile1774_Ser1775insIle
ENST00000382538.10:c.5044_5046dup	ENSP00000371978.6:p.Ile1682_Ser1683insIle
ENST00000401874.6:c.5188_5190dup	ENSP00000384468.2:p.Ile1730_Ser1731insIle
ENST00000439117.6:c.*4556_*4558dup	ENSP00000406980.2:n.*4556_*4558dup
ENST00000439673.6:c.5080_5082dup	ENSP00000399232.2:p.Ile1694_Ser1695insIle
ENST00000497886.5:n.3112_3114dup
ENST00000568454.5:c.5221_5223dup	ENSP00000454487.1:p.Ile1741_Ser1742insIle
ENST00000569110.1:c.1571_1573dup
ENST00000569930.1:n.2504_2506dup
NM_000548.3:c.5389_5391dup , LRG_487t1:c.5389_5391dup	NP_000539.2:p.Ile1797_Ser1798insIle
NM_001077183.1:c.5188_5190dup	NP_001070651.1:p.Ile1730_Ser1731insIle
NM_001114382.1:c.5320_5322dup	NP_001107854.1:p.Ile1774_Ser1775insIle
XM_005255529.3:c.5260_5262dup	XP_005255586.2:p.Ile1754_Ser1755insIle
XM_005255531.3:c.5191_5193dup	XP_005255588.2:p.Ile1731_Ser1732insIle
XM_011522636.1:c.5443_5445dup	XP_011520938.1:p.Ile1815_Ser1816insIle
XM_011522637.1:c.5440_5442dup	XP_011520939.1:p.Ile1814_Ser1815insIle
XM_011522638.1:c.5332_5334dup	XP_011520940.1:p.Ile1778_Ser1779insIle
XM_011522639.1:c.5314_5316dup	XP_011520941.1:p.Ile1772_Ser1773insIle
XM_011522640.1:c.5311_5313dup	XP_011520942.1:p.Ile1771_Ser1772insIle
XM_011522641.1:c.5080_5082dup	XP_011520943.1:p.Ile1694_Ser1695insIle
NM_000548.4:c.5389_5391dup	NP_000539.2:p.Ile1797_Ser1798insIle
NM_001077183.2:c.5188_5190dup	NP_001070651.1:p.Ile1730_Ser1731insIle
NM_001114382.2:c.5320_5322dup	NP_001107854.1:p.Ile1774_Ser1775insIle
NM_001318827.1:c.5080_5082dup	NP_001305756.1:p.Ile1694_Ser1695insIle
NM_001318829.1:c.5044_5046dup	NP_001305758.1:p.Ile1682_Ser1683insIle
NM_001318831.1:c.4657_4659dup	NP_001305760.1:p.Ile1553_Ser1554insIle
NM_001318832.1:c.5221_5223dup	NP_001305761.1:p.Ile1741_Ser1742insIle
NM_001363528.1:c.5191_5193dup	NP_001350457.1:p.Ile1731_Ser1732insIle
NM_021055.2:c.5260_5262dup	NP_066399.2:p.Ile1754_Ser1755insIle
XM_005255531.4:c.5191_5193dup	XP_005255588.2:p.Ile1731_Ser1732insIle
XM_011522636.2:c.5443_5445dup	XP_011520938.1:p.Ile1815_Ser1816insIle
XM_011522637.2:c.5440_5442dup	XP_011520939.1:p.Ile1814_Ser1815insIle
XM_011522638.2:c.5605_5607dup	XP_011520940.2:p.Ile1869_Ser1870insIle
XM_011522639.2:c.5314_5316dup	XP_011520941.1:p.Ile1772_Ser1773insIle
XM_011522640.2:c.5311_5313dup	XP_011520942.1:p.Ile1771_Ser1772insIle
XM_017023615.1:c.5386_5388dup	XP_016879104.1:p.Ile1796_Ser1797insIle
XM_017023616.1:c.5257_5259dup	XP_016879105.1:p.Ile1753_Ser1754insIle
XM_017023617.1:c.5353_5355dup	XP_016879106.1:p.Ile1785_Ser1786insIle
XM_017023618.1:c.4099_4101dup	XP_016879107.1:p.Ile1367_Ser1368insIle
XM_024450413.1:c.5275_5277dup	XP_024306181.1:p.Ile1759_Ser1760insIle
NM_000548.5:c.5389_5391dup MANE Select	NP_000539.2:p.Ile1797_Ser1798insIle
NM_001370404.1:c.5257_5259dup	NP_001357333.1:p.Ile1753_Ser1754insIle
NM_001370405.1:c.5248_5250dup	NP_001357334.1:p.Ile1750_Ser1751insIle
NM_001077183.3:c.5188_5190dup	NP_001070651.1:p.Ile1730_Ser1731insIle
NM_001114382.3:c.5320_5322dup	NP_001107854.1:p.Ile1774_Ser1775insIle
NM_001318827.2:c.5080_5082dup	NP_001305756.1:p.Ile1694_Ser1695insIle
NM_001318829.2:c.5044_5046dup	NP_001305758.1:p.Ile1682_Ser1683insIle
NM_001318831.2:c.4657_4659dup	NP_001305760.1:p.Ile1553_Ser1554insIle
NM_001318832.2:c.5221_5223dup	NP_001305761.1:p.Ile1741_Ser1742insIle
NM_001363528.2:c.5191_5193dup	NP_001350457.1:p.Ile1731_Ser1732insIle
NM_021055.3:c.5260_5262dup	NP_066399.2:p.Ile1754_Ser1755insIle