Canonical Allele Identifier: CA2838629630

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088526dup , CM000678.2:g.2088526dup	GRCh38
NC_000016.9:g.2138527dup , CM000678.1:g.2138527dup	GRCh37
NC_000016.8:g.2078528dup	NCBI36
NG_005895.1:g.44221dup , LRG_487:g.44221dup
NG_008617.1:g.54695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3689dup	ENSP00000455997.2:n.*3689dup
ENST00000642206.2:c.5187dup	ENSP00000495146.2:p.Pro1730SerfsTer9
ENST00000642365.2:c.5337dup	ENSP00000495459.2:p.Pro1780SerfsTer9
ENST00000644417.2:c.*5853dup	ENSP00000493912.2:n.*5853dup
ENST00000646464.2:c.*8089dup	ENSP00000496610.2:n.*8089dup
ENST00000219476.9:c.5340dup MANE Select	ENSP00000219476.3:p.Pro1781SerfsTer9
ENST00000350773.9:c.5271dup	ENSP00000344383.4:p.Pro1758SerfsTer9
ENST00000401874.7:c.5139dup	ENSP00000384468.2:p.Pro1714SerfsTer9
ENST00000568454.6:c.5172dup	ENSP00000454487.1:p.Pro1725SerfsTer9
ENST00000569110.2:c.1563dup
ENST00000569930.2:n.3222dup
ENST00000642365.1:c.3994dup
ENST00000642561.1:c.5199dup	ENSP00000495099.1:p.Pro1734SerfsTer9
ENST00000642791.1:n.937dup
ENST00000642797.1:c.5142dup	ENSP00000493846.1:p.Pro1715SerfsTer9
ENST00000642936.1:c.5208dup	ENSP00000494514.1:p.Pro1737SerfsTer9
ENST00000643088.1:c.5133dup	ENSP00000494747.1:p.Pro1712SerfsTer9
ENST00000643426.1:n.2988dup
ENST00000643946.1:c.5265dup	ENSP00000495927.1:p.Pro1756SerfsTer9
ENST00000644043.1:c.5211dup	ENSP00000496262.1:p.Pro1738SerfsTer9
ENST00000644329.1:c.5226dup	ENSP00000496611.1:p.Pro1743SerfsTer9
ENST00000644335.1:c.5136dup	ENSP00000496317.1:p.Pro1713SerfsTer9
ENST00000644399.1:c.5261dup
ENST00000645024.1:n.3424dup
ENST00000646388.1:c.5334dup	ENSP00000495921.1:p.Pro1779SerfsTer9
ENST00000646634.1:n.4155dup
ENST00000646674.1:n.2592dup
ENST00000647042.1:n.2563dup
ENST00000647180.1:n.2453dup
ENST00000219476.7:c.5340dup	ENSP00000219476.3:p.Pro1781SerfsTer9
ENST00000350773.8:c.5271dup	ENSP00000344383.4:p.Pro1758SerfsTer9
ENST00000382538.10:c.4995dup	ENSP00000371978.6:p.Pro1666SerfsTer9
ENST00000401874.6:c.5139dup	ENSP00000384468.2:p.Pro1714SerfsTer9
ENST00000439117.6:c.*4507dup	ENSP00000406980.2:n.*4507dup
ENST00000439673.6:c.5031dup	ENSP00000399232.2:p.Pro1678SerfsTer9
ENST00000497886.5:n.3063dup
ENST00000568454.5:c.5172dup	ENSP00000454487.1:p.Pro1725SerfsTer9
ENST00000569110.1:c.1522dup
ENST00000569930.1:n.2455dup
NM_000548.3:c.5340dup , LRG_487t1:c.5340dup	NP_000539.2:p.Pro1781SerfsTer9
NM_001077183.1:c.5139dup	NP_001070651.1:p.Pro1714SerfsTer9
NM_001114382.1:c.5271dup	NP_001107854.1:p.Pro1758SerfsTer9
XM_005255529.3:c.5211dup	XP_005255586.2:p.Pro1738SerfsTer9
XM_005255531.3:c.5142dup	XP_005255588.2:p.Pro1715SerfsTer9
XM_011522636.1:c.5394dup	XP_011520938.1:p.Pro1799SerfsTer9
XM_011522637.1:c.5391dup	XP_011520939.1:p.Pro1798SerfsTer9
XM_011522638.1:c.5283dup	XP_011520940.1:p.Pro1762SerfsTer9
XM_011522639.1:c.5265dup	XP_011520941.1:p.Pro1756SerfsTer9
XM_011522640.1:c.5262dup	XP_011520942.1:p.Pro1755SerfsTer9
XM_011522641.1:c.5031dup	XP_011520943.1:p.Pro1678SerfsTer9
NM_000548.4:c.5340dup	NP_000539.2:p.Pro1781SerfsTer9
NM_001077183.2:c.5139dup	NP_001070651.1:p.Pro1714SerfsTer9
NM_001114382.2:c.5271dup	NP_001107854.1:p.Pro1758SerfsTer9
NM_001318827.1:c.5031dup	NP_001305756.1:p.Pro1678SerfsTer9
NM_001318829.1:c.4995dup	NP_001305758.1:p.Pro1666SerfsTer9
NM_001318831.1:c.4608dup	NP_001305760.1:p.Pro1537SerfsTer9
NM_001318832.1:c.5172dup	NP_001305761.1:p.Pro1725SerfsTer9
NM_001363528.1:c.5142dup	NP_001350457.1:p.Pro1715SerfsTer9
NM_021055.2:c.5211dup	NP_066399.2:p.Pro1738SerfsTer9
XM_005255531.4:c.5142dup	XP_005255588.2:p.Pro1715SerfsTer9
XM_011522636.2:c.5394dup	XP_011520938.1:p.Pro1799SerfsTer9
XM_011522637.2:c.5391dup	XP_011520939.1:p.Pro1798SerfsTer9
XM_011522638.2:c.5556dup	XP_011520940.2:p.Pro1853SerfsTer9
XM_011522639.2:c.5265dup	XP_011520941.1:p.Pro1756SerfsTer9
XM_011522640.2:c.5262dup	XP_011520942.1:p.Pro1755SerfsTer9
XM_017023615.1:c.5337dup	XP_016879104.1:p.Pro1780SerfsTer9
XM_017023616.1:c.5208dup	XP_016879105.1:p.Pro1737SerfsTer9
XM_017023617.1:c.5304dup	XP_016879106.1:p.Pro1769SerfsTer9
XM_017023618.1:c.4050dup	XP_016879107.1:p.Pro1351SerfsTer9
XM_024450413.1:c.5226dup	XP_024306181.1:p.Pro1743SerfsTer9
NM_000548.5:c.5340dup MANE Select	NP_000539.2:p.Pro1781SerfsTer9
NM_001370404.1:c.5208dup	NP_001357333.1:p.Pro1737SerfsTer9
NM_001370405.1:c.5199dup	NP_001357334.1:p.Pro1734SerfsTer9
NM_001077183.3:c.5139dup	NP_001070651.1:p.Pro1714SerfsTer9
NM_001114382.3:c.5271dup	NP_001107854.1:p.Pro1758SerfsTer9
NM_001318827.2:c.5031dup	NP_001305756.1:p.Pro1678SerfsTer9
NM_001318829.2:c.4995dup	NP_001305758.1:p.Pro1666SerfsTer9
NM_001318831.2:c.4608dup	NP_001305760.1:p.Pro1537SerfsTer9
NM_001318832.2:c.5172dup	NP_001305761.1:p.Pro1725SerfsTer9
NM_001363528.2:c.5142dup	NP_001350457.1:p.Pro1715SerfsTer9
NM_021055.3:c.5211dup	NP_066399.2:p.Pro1738SerfsTer9