Canonical Allele Identifier: CA054945

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088469C>T , CM000678.2:g.2088469C>T	GRCh38
NC_000016.9:g.2138470C>T , CM000678.1:g.2138470C>T	GRCh37
NC_000016.8:g.2078471C>T	NCBI36
NG_005895.1:g.44164C>T , LRG_487:g.44164C>T
NG_008617.1:g.54752G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.5283C>T MANE Select	NP_000539.2:p.Ser1761=
ENST00000219476.9:c.5283C>T MANE Select	ENSP00000219476.3:p.Ser1761=
NM_000548.3:c.5283C>T , LRG_487t1:c.5283C>T	NP_000539.2:p.Ser1761=
NM_000548.4:c.5283C>T	NP_000539.2:p.Ser1761=
NM_001077183.1:c.5082C>T	NP_001070651.1:p.Ser1694=
NM_001077183.2:c.5082C>T	NP_001070651.1:p.Ser1694=
NM_001077183.3:c.5082C>T	NP_001070651.1:p.Ser1694=
NM_001114382.1:c.5214C>T	NP_001107854.1:p.Ser1738=
NM_001114382.2:c.5214C>T	NP_001107854.1:p.Ser1738=
NM_001114382.3:c.5214C>T	NP_001107854.1:p.Ser1738=
NM_001318827.1:c.4974C>T	NP_001305756.1:p.Ser1658=
NM_001318827.2:c.4974C>T	NP_001305756.1:p.Ser1658=
NM_001318829.1:c.4938C>T	NP_001305758.1:p.Ser1646=
NM_001318829.2:c.4938C>T	NP_001305758.1:p.Ser1646=
NM_001318831.1:c.4551C>T	NP_001305760.1:p.Ser1517=
NM_001318831.2:c.4551C>T	NP_001305760.1:p.Ser1517=
NM_001318832.1:c.5115C>T	NP_001305761.1:p.Ser1705=
NM_001318832.2:c.5115C>T	NP_001305761.1:p.Ser1705=
NM_001363528.1:c.5085C>T	NP_001350457.1:p.Ser1695=
NM_001363528.2:c.5085C>T	NP_001350457.1:p.Ser1695=
NM_001370404.1:c.5151C>T	NP_001357333.1:p.Ser1717=
NM_001370405.1:c.5142C>T	NP_001357334.1:p.Ser1714=
NM_021055.2:c.5154C>T	NP_066399.2:p.Ser1718=
NM_021055.3:c.5154C>T	NP_066399.2:p.Ser1718=
ENST00000219476.7:c.5283C>T	ENSP00000219476.3:p.Ser1761=
ENST00000350773.8:c.5214C>T	ENSP00000344383.4:p.Ser1738=
ENST00000350773.9:c.5214C>T	ENSP00000344383.4:p.Ser1738=
ENST00000382538.10:c.4938C>T	ENSP00000371978.6:p.Ser1646=
ENST00000401874.6:c.5082C>T	ENSP00000384468.2:p.Ser1694=
ENST00000401874.7:c.5082C>T	ENSP00000384468.2:p.Ser1694=
ENST00000439117.6:c.*4450C>T	ENSP00000406980.2:n.*4450C>T
ENST00000439673.6:c.4974C>T	ENSP00000399232.2:p.Ser1658=
ENST00000497886.5:n.3006C>T
ENST00000568454.5:c.5115C>T	ENSP00000454487.1:p.Ser1705=
ENST00000568454.6:c.5115C>T	ENSP00000454487.1:p.Ser1705=
ENST00000568566.6:c.*3632C>T	ENSP00000455997.2:n.*3632C>T
ENST00000569110.1:c.1465C>T
ENST00000569110.2:c.1506C>T
ENST00000569930.1:n.2398C>T
ENST00000569930.2:n.3165C>T
ENST00000642206.2:c.5130C>T	ENSP00000495146.2:p.Ser1710=
ENST00000642365.1:c.3937C>T
ENST00000642365.2:c.5280C>T	ENSP00000495459.2:p.Ser1760=
ENST00000642561.1:c.5142C>T	ENSP00000495099.1:p.Ser1714=
ENST00000642791.1:n.880C>T
ENST00000642797.1:c.5085C>T	ENSP00000493846.1:p.Ser1695=
ENST00000642936.1:c.5151C>T	ENSP00000494514.1:p.Ser1717=
ENST00000643088.1:c.5076C>T	ENSP00000494747.1:p.Ser1692=
ENST00000643426.1:n.2931C>T
ENST00000643946.1:c.5208C>T	ENSP00000495927.1:p.Ser1736=
ENST00000644043.1:c.5154C>T	ENSP00000496262.1:p.Ser1718=
ENST00000644329.1:c.5169C>T	ENSP00000496611.1:p.Ser1723=
ENST00000644335.1:c.5079C>T	ENSP00000496317.1:p.Ser1693=
ENST00000644399.1:c.5204C>T
ENST00000644417.2:c.*5796C>T	ENSP00000493912.2:n.*5796C>T
ENST00000645024.1:n.3367C>T
ENST00000646388.1:c.5277C>T	ENSP00000495921.1:p.Ser1759=
ENST00000646464.2:c.*8032C>T	ENSP00000496610.2:n.*8032C>T
ENST00000646634.1:n.4098C>T
ENST00000646674.1:n.2535C>T
ENST00000647042.1:n.2506C>T
ENST00000647180.1:n.2396C>T
XM_005255529.3:c.5154C>T	XP_005255586.2:p.Ser1718=
XM_005255531.3:c.5085C>T	XP_005255588.2:p.Ser1695=
XM_005255531.4:c.5085C>T	XP_005255588.2:p.Ser1695=
XM_011522636.1:c.5337C>T	XP_011520938.1:p.Ser1779=
XM_011522636.2:c.5337C>T	XP_011520938.1:p.Ser1779=
XM_011522637.1:c.5334C>T	XP_011520939.1:p.Ser1778=
XM_011522637.2:c.5334C>T	XP_011520939.1:p.Ser1778=
XM_011522638.1:c.5226C>T	XP_011520940.1:p.Ser1742=
XM_011522638.2:c.5499C>T	XP_011520940.2:p.Ser1833=
XM_011522639.1:c.5208C>T	XP_011520941.1:p.Ser1736=
XM_011522639.2:c.5208C>T	XP_011520941.1:p.Ser1736=
XM_011522640.1:c.5205C>T	XP_011520942.1:p.Ser1735=
XM_011522640.2:c.5205C>T	XP_011520942.1:p.Ser1735=
XM_011522641.1:c.4974C>T	XP_011520943.1:p.Ser1658=
XM_017023615.1:c.5280C>T	XP_016879104.1:p.Ser1760=
XM_017023616.1:c.5151C>T	XP_016879105.1:p.Ser1717=
XM_017023617.1:c.5247C>T	XP_016879106.1:p.Ser1749=
XM_017023618.1:c.3993C>T	XP_016879107.1:p.Ser1331=
XM_024450413.1:c.5169C>T	XP_024306181.1:p.Ser1723=