Canonical Allele Identifier: CA2202032440

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088292_2088310delinsCCGGCTCCGCCACATCAAG , CM000678.2:g.2088292_2088310delinsCCGGCTCCGCCACATCAAG	GRCh38
NC_000016.9:g.2138293_2138311delinsCCGGCTCCGCCACATCAAG , CM000678.1:g.2138293_2138311delinsCCGGCTCCGCCACATCAAG	GRCh37
NC_000016.8:g.2078294_2078312delinsCCGGCTCCGCCACATCAAG	NCBI36
NG_005895.1:g.43987_44005delinsCCGGCTCCGCCACATCAAG , LRG_487:g.43987_44005delinsCCGGCTCCGCCACATCAAG
NG_008617.1:g.54911_54929delinsCTTGATGTGGCGGAGCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3575_*3593delinsCCGGCTCCGCCACATCAAG	ENSP00000455997.2:n.*3575_*3593delinsCCGGCTCCGCCACATCAAG
ENST00000642206.2:c.5073_5091delinsCCGGCTCCGCCACATCAAG	ENSP00000495146.2:p.Ala1691=
ENST00000642365.2:c.5223_5241delinsCCGGCTCCGCCACATCAAG	ENSP00000495459.2:p.Ala1741=
ENST00000644417.2:c.*5739_*5757delinsCCGGCTCCGCCACATCAAG	ENSP00000493912.2:n.*5739_*5757delinsCCGGCTCCGCCACATCAAG
ENST00000646464.2:c.*7975_*7993delinsCCGGCTCCGCCACATCAAG	ENSP00000496610.2:n.*7975_*7993delinsCCGGCTCCGCCACATCAAG
ENST00000219476.9:c.5226_5244delinsCCGGCTCCGCCACATCAAG MANE Select	ENSP00000219476.3:p.Ala1742=
ENST00000350773.9:c.5157_5175delinsCCGGCTCCGCCACATCAAG	ENSP00000344383.4:p.Ala1719=
ENST00000401874.7:c.5025_5043delinsCCGGCTCCGCCACATCAAG	ENSP00000384468.2:p.Ala1675=
ENST00000568454.6:c.5058_5076delinsCCGGCTCCGCCACATCAAG	ENSP00000454487.1:p.Ala1686=
ENST00000569110.2:c.1449_1467delinsCCGGCTCCGCCACATCAAG
ENST00000569930.2:n.3108_3126delinsCCGGCTCCGCCACATCAAG
ENST00000642365.1:c.3880_3898delinsCCGGCTCCGCCACATCAAG
ENST00000642561.1:c.5085_5103delinsCCGGCTCCGCCACATCAAG	ENSP00000495099.1:p.Ala1695=
ENST00000642791.1:n.823_841delinsCCGGCTCCGCCACATCAAG
ENST00000642797.1:c.5028_5046delinsCCGGCTCCGCCACATCAAG	ENSP00000493846.1:p.Ala1676=
ENST00000642936.1:c.5094_5112delinsCCGGCTCCGCCACATCAAG	ENSP00000494514.1:p.Ala1698=
ENST00000643088.1:c.5019_5037delinsCCGGCTCCGCCACATCAAG	ENSP00000494747.1:p.Ala1673=
ENST00000643426.1:n.2874_2892delinsCCGGCTCCGCCACATCAAG
ENST00000643946.1:c.5151_5169delinsCCGGCTCCGCCACATCAAG	ENSP00000495927.1:p.Ala1717=
ENST00000644043.1:c.5097_5115delinsCCGGCTCCGCCACATCAAG	ENSP00000496262.1:p.Ala1699=
ENST00000644329.1:c.5112_5130delinsCCGGCTCCGCCACATCAAG	ENSP00000496611.1:p.Ala1704=
ENST00000644335.1:c.5022_5040delinsCCGGCTCCGCCACATCAAG	ENSP00000496317.1:p.Ala1674=
ENST00000644399.1:c.5147_5165delinsCCGGCTCCGCCACATCAAG
ENST00000645024.1:n.3310_3328delinsCCGGCTCCGCCACATCAAG
ENST00000646388.1:c.5220_5238delinsCCGGCTCCGCCACATCAAG	ENSP00000495921.1:p.Ala1740=
ENST00000646634.1:n.4041_4059delinsCCGGCTCCGCCACATCAAG
ENST00000646674.1:n.2478_2496delinsCCGGCTCCGCCACATCAAG
ENST00000647042.1:n.2449_2467delinsCCGGCTCCGCCACATCAAG
ENST00000647180.1:n.2339_2357delinsCCGGCTCCGCCACATCAAG
ENST00000219476.7:c.5226_5244delinsCCGGCTCCGCCACATCAAG	ENSP00000219476.3:p.Ala1742=
ENST00000350773.8:c.5157_5175delinsCCGGCTCCGCCACATCAAG	ENSP00000344383.4:p.Ala1719=
ENST00000382538.10:c.4881_4899delinsCCGGCTCCGCCACATCAAG	ENSP00000371978.6:p.Ala1627=
ENST00000401874.6:c.5025_5043delinsCCGGCTCCGCCACATCAAG	ENSP00000384468.2:p.Ala1675=
ENST00000439117.6:c.*4393_*4411delinsCCGGCTCCGCCACATCAAG	ENSP00000406980.2:n.*4393_*4411delinsCCGGCTCCGCCACATCAAG
ENST00000439673.6:c.4917_4935delinsCCGGCTCCGCCACATCAAG	ENSP00000399232.2:p.Ala1639=
ENST00000497886.5:n.2949_2967delinsCCGGCTCCGCCACATCAAG
ENST00000568454.5:c.5058_5076delinsCCGGCTCCGCCACATCAAG	ENSP00000454487.1:p.Ala1686=
ENST00000569110.1:c.1408_1426delinsCCGGCTCCGCCACATCAAG
ENST00000569930.1:n.2341_2359delinsCCGGCTCCGCCACATCAAG
NM_000548.3:c.5226_5244delinsCCGGCTCCGCCACATCAAG , LRG_487t1:c.5226_5244delinsCCGGCTCCGCCACATCAAG	NP_000539.2:p.Ala1742=
NM_001077183.1:c.5025_5043delinsCCGGCTCCGCCACATCAAG	NP_001070651.1:p.Ala1675=
NM_001114382.1:c.5157_5175delinsCCGGCTCCGCCACATCAAG	NP_001107854.1:p.Ala1719=
XM_005255529.3:c.5097_5115delinsCCGGCTCCGCCACATCAAG	XP_005255586.2:p.Ala1699=
XM_005255531.3:c.5028_5046delinsCCGGCTCCGCCACATCAAG	XP_005255588.2:p.Ala1676=
XM_011522636.1:c.5280_5298delinsCCGGCTCCGCCACATCAAG	XP_011520938.1:p.Ala1760=
XM_011522637.1:c.5277_5295delinsCCGGCTCCGCCACATCAAG	XP_011520939.1:p.Ala1759=
XM_011522638.1:c.5169_5187delinsCCGGCTCCGCCACATCAAG	XP_011520940.1:p.Ala1723=
XM_011522639.1:c.5151_5169delinsCCGGCTCCGCCACATCAAG	XP_011520941.1:p.Ala1717=
XM_011522640.1:c.5148_5166delinsCCGGCTCCGCCACATCAAG	XP_011520942.1:p.Ala1716=
XM_011522641.1:c.4917_4935delinsCCGGCTCCGCCACATCAAG	XP_011520943.1:p.Ala1639=
NM_000548.4:c.5226_5244delinsCCGGCTCCGCCACATCAAG	NP_000539.2:p.Ala1742=
NM_001077183.2:c.5025_5043delinsCCGGCTCCGCCACATCAAG	NP_001070651.1:p.Ala1675=
NM_001114382.2:c.5157_5175delinsCCGGCTCCGCCACATCAAG	NP_001107854.1:p.Ala1719=
NM_001318827.1:c.4917_4935delinsCCGGCTCCGCCACATCAAG	NP_001305756.1:p.Ala1639=
NM_001318829.1:c.4881_4899delinsCCGGCTCCGCCACATCAAG	NP_001305758.1:p.Ala1627=
NM_001318831.1:c.4494_4512delinsCCGGCTCCGCCACATCAAG	NP_001305760.1:p.Ala1498=
NM_001318832.1:c.5058_5076delinsCCGGCTCCGCCACATCAAG	NP_001305761.1:p.Ala1686=
NM_001363528.1:c.5028_5046delinsCCGGCTCCGCCACATCAAG	NP_001350457.1:p.Ala1676=
NM_021055.2:c.5097_5115delinsCCGGCTCCGCCACATCAAG	NP_066399.2:p.Ala1699=
XM_005255531.4:c.5028_5046delinsCCGGCTCCGCCACATCAAG	XP_005255588.2:p.Ala1676=
XM_011522636.2:c.5280_5298delinsCCGGCTCCGCCACATCAAG	XP_011520938.1:p.Ala1760=
XM_011522637.2:c.5277_5295delinsCCGGCTCCGCCACATCAAG	XP_011520939.1:p.Ala1759=
XM_011522638.2:c.5442_5460delinsCCGGCTCCGCCACATCAAG	XP_011520940.2:p.Ala1814=
XM_011522639.2:c.5151_5169delinsCCGGCTCCGCCACATCAAG	XP_011520941.1:p.Ala1717=
XM_011522640.2:c.5148_5166delinsCCGGCTCCGCCACATCAAG	XP_011520942.1:p.Ala1716=
XM_017023615.1:c.5223_5241delinsCCGGCTCCGCCACATCAAG	XP_016879104.1:p.Ala1741=
XM_017023616.1:c.5094_5112delinsCCGGCTCCGCCACATCAAG	XP_016879105.1:p.Ala1698=
XM_017023617.1:c.5190_5208delinsCCGGCTCCGCCACATCAAG	XP_016879106.1:p.Ala1730=
XM_017023618.1:c.3936_3954delinsCCGGCTCCGCCACATCAAG	XP_016879107.1:p.Ala1312=
XM_024450413.1:c.5112_5130delinsCCGGCTCCGCCACATCAAG	XP_024306181.1:p.Ala1704=
NM_000548.5:c.5226_5244delinsCCGGCTCCGCCACATCAAG MANE Select	NP_000539.2:p.Ala1742=
NM_001370404.1:c.5094_5112delinsCCGGCTCCGCCACATCAAG	NP_001357333.1:p.Ala1698=
NM_001370405.1:c.5085_5103delinsCCGGCTCCGCCACATCAAG	NP_001357334.1:p.Ala1695=
NM_001077183.3:c.5025_5043delinsCCGGCTCCGCCACATCAAG	NP_001070651.1:p.Ala1675=
NM_001114382.3:c.5157_5175delinsCCGGCTCCGCCACATCAAG	NP_001107854.1:p.Ala1719=
NM_001318827.2:c.4917_4935delinsCCGGCTCCGCCACATCAAG	NP_001305756.1:p.Ala1639=
NM_001318829.2:c.4881_4899delinsCCGGCTCCGCCACATCAAG	NP_001305758.1:p.Ala1627=
NM_001318831.2:c.4494_4512delinsCCGGCTCCGCCACATCAAG	NP_001305760.1:p.Ala1498=
NM_001318832.2:c.5058_5076delinsCCGGCTCCGCCACATCAAG	NP_001305761.1:p.Ala1686=
NM_001363528.2:c.5028_5046delinsCCGGCTCCGCCACATCAAG	NP_001350457.1:p.Ala1676=
NM_021055.3:c.5097_5115delinsCCGGCTCCGCCACATCAAG	NP_066399.2:p.Ala1699=