Canonical Allele Identifier: CA493043838

Gene: TSC2

Linked Data

• dbSNP Id: rs2151631746
• MyVariant Identifiers: chr16:g.2138302C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088301C>A , CM000678.2:g.2088301C>A	GRCh38
NC_000016.9:g.2138302C>A , CM000678.1:g.2138302C>A	GRCh37
NC_000016.8:g.2078303C>A	NCBI36
NG_005895.1:g.43996C>A , LRG_487:g.43996C>A
NG_008617.1:g.54920G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3584C>A	ENSP00000455997.2:n.*3584C>A
ENST00000642206.2:c.5082C>A	ENSP00000495146.2:p.Arg1694=
ENST00000642365.2:c.5232C>A	ENSP00000495459.2:p.Arg1744=
ENST00000644417.2:c.*5748C>A	ENSP00000493912.2:n.*5748C>A
ENST00000646464.2:c.*7984C>A	ENSP00000496610.2:n.*7984C>A
ENST00000219476.9:c.5235C>A MANE Select	ENSP00000219476.3:p.Arg1745=
ENST00000350773.9:c.5166C>A	ENSP00000344383.4:p.Arg1722=
ENST00000401874.7:c.5034C>A	ENSP00000384468.2:p.Arg1678=
ENST00000568454.6:c.5067C>A	ENSP00000454487.1:p.Arg1689=
ENST00000569110.2:c.1458C>A
ENST00000569930.2:n.3117C>A
ENST00000642365.1:c.3889C>A
ENST00000642561.1:c.5094C>A	ENSP00000495099.1:p.Arg1698=
ENST00000642791.1:n.832C>A
ENST00000642797.1:c.5037C>A	ENSP00000493846.1:p.Arg1679=
ENST00000642936.1:c.5103C>A	ENSP00000494514.1:p.Arg1701=
ENST00000643088.1:c.5028C>A	ENSP00000494747.1:p.Arg1676=
ENST00000643426.1:n.2883C>A
ENST00000643946.1:c.5160C>A	ENSP00000495927.1:p.Arg1720=
ENST00000644043.1:c.5106C>A	ENSP00000496262.1:p.Arg1702=
ENST00000644329.1:c.5121C>A	ENSP00000496611.1:p.Arg1707=
ENST00000644335.1:c.5031C>A	ENSP00000496317.1:p.Arg1677=
ENST00000644399.1:c.5156C>A
ENST00000645024.1:n.3319C>A
ENST00000646388.1:c.5229C>A	ENSP00000495921.1:p.Arg1743=
ENST00000646634.1:n.4050C>A
ENST00000646674.1:n.2487C>A
ENST00000647042.1:n.2458C>A
ENST00000647180.1:n.2348C>A
ENST00000219476.7:c.5235C>A	ENSP00000219476.3:p.Arg1745=
ENST00000350773.8:c.5166C>A	ENSP00000344383.4:p.Arg1722=
ENST00000382538.10:c.4890C>A	ENSP00000371978.6:p.Arg1630=
ENST00000401874.6:c.5034C>A	ENSP00000384468.2:p.Arg1678=
ENST00000439117.6:c.*4402C>A	ENSP00000406980.2:n.*4402C>A
ENST00000439673.6:c.4926C>A	ENSP00000399232.2:p.Arg1642=
ENST00000497886.5:n.2958C>A
ENST00000568454.5:c.5067C>A	ENSP00000454487.1:p.Arg1689=
ENST00000569110.1:c.1417C>A
ENST00000569930.1:n.2350C>A
NM_000548.3:c.5235C>A , LRG_487t1:c.5235C>A	NP_000539.2:p.Arg1745=
NM_001077183.1:c.5034C>A	NP_001070651.1:p.Arg1678=
NM_001114382.1:c.5166C>A	NP_001107854.1:p.Arg1722=
XM_005255529.3:c.5106C>A	XP_005255586.2:p.Arg1702=
XM_005255531.3:c.5037C>A	XP_005255588.2:p.Arg1679=
XM_011522636.1:c.5289C>A	XP_011520938.1:p.Arg1763=
XM_011522637.1:c.5286C>A	XP_011520939.1:p.Arg1762=
XM_011522638.1:c.5178C>A	XP_011520940.1:p.Arg1726=
XM_011522639.1:c.5160C>A	XP_011520941.1:p.Arg1720=
XM_011522640.1:c.5157C>A	XP_011520942.1:p.Arg1719=
XM_011522641.1:c.4926C>A	XP_011520943.1:p.Arg1642=
NM_000548.4:c.5235C>A	NP_000539.2:p.Arg1745=
NM_001077183.2:c.5034C>A	NP_001070651.1:p.Arg1678=
NM_001114382.2:c.5166C>A	NP_001107854.1:p.Arg1722=
NM_001318827.1:c.4926C>A	NP_001305756.1:p.Arg1642=
NM_001318829.1:c.4890C>A	NP_001305758.1:p.Arg1630=
NM_001318831.1:c.4503C>A	NP_001305760.1:p.Arg1501=
NM_001318832.1:c.5067C>A	NP_001305761.1:p.Arg1689=
NM_001363528.1:c.5037C>A	NP_001350457.1:p.Arg1679=
NM_021055.2:c.5106C>A	NP_066399.2:p.Arg1702=
XM_005255531.4:c.5037C>A	XP_005255588.2:p.Arg1679=
XM_011522636.2:c.5289C>A	XP_011520938.1:p.Arg1763=
XM_011522637.2:c.5286C>A	XP_011520939.1:p.Arg1762=
XM_011522638.2:c.5451C>A	XP_011520940.2:p.Arg1817=
XM_011522639.2:c.5160C>A	XP_011520941.1:p.Arg1720=
XM_011522640.2:c.5157C>A	XP_011520942.1:p.Arg1719=
XM_017023615.1:c.5232C>A	XP_016879104.1:p.Arg1744=
XM_017023616.1:c.5103C>A	XP_016879105.1:p.Arg1701=
XM_017023617.1:c.5199C>A	XP_016879106.1:p.Arg1733=
XM_017023618.1:c.3945C>A	XP_016879107.1:p.Arg1315=
XM_024450413.1:c.5121C>A	XP_024306181.1:p.Arg1707=
NM_000548.5:c.5235C>A MANE Select	NP_000539.2:p.Arg1745=
NM_001370404.1:c.5103C>A	NP_001357333.1:p.Arg1701=
NM_001370405.1:c.5094C>A	NP_001357334.1:p.Arg1698=
NM_001077183.3:c.5034C>A	NP_001070651.1:p.Arg1678=
NM_001114382.3:c.5166C>A	NP_001107854.1:p.Arg1722=
NM_001318827.2:c.4926C>A	NP_001305756.1:p.Arg1642=
NM_001318829.2:c.4890C>A	NP_001305758.1:p.Arg1630=
NM_001318831.2:c.4503C>A	NP_001305760.1:p.Arg1501=
NM_001318832.2:c.5067C>A	NP_001305761.1:p.Arg1689=
NM_001363528.2:c.5037C>A	NP_001350457.1:p.Arg1679=
NM_021055.3:c.5106C>A	NP_066399.2:p.Arg1702=