Canonical Allele Identifier: CA3267547640

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084327_2084447dup , CM000678.2:g.2084327_2084447dup	GRCh38
NC_000016.9:g.2134328_2134448dup , CM000678.1:g.2134328_2134448dup	GRCh37
NC_000016.8:g.2074329_2074449dup	NCBI36
NG_005895.1:g.40022_40142dup , LRG_487:g.40022_40142dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4105_4225dup MANE Select	NP_000539.2:p.Arg1409ProfsTer45
ENST00000219476.9:c.4105_4225dup MANE Select	ENSP00000219476.3:p.Arg1409ProfsTer45
NM_000548.3:c.4105_4225dup , LRG_487t1:c.4105_4225dup	NP_000539.2:p.Arg1409ProfsTer45
NM_000548.4:c.4105_4225dup	NP_000539.2:p.Arg1409ProfsTer45
NM_001077183.1:c.3904_4024dup	NP_001070651.1:p.Arg1342ProfsTer45
NM_001077183.2:c.3904_4024dup	NP_001070651.1:p.Arg1342ProfsTer45
NM_001077183.3:c.3904_4024dup	NP_001070651.1:p.Arg1342ProfsTer45
NM_001114382.1:c.4036_4156dup	NP_001107854.1:p.Arg1386ProfsTer45
NM_001114382.2:c.4036_4156dup	NP_001107854.1:p.Arg1386ProfsTer45
NM_001114382.3:c.4036_4156dup	NP_001107854.1:p.Arg1386ProfsTer45
NM_001318827.1:c.3796_3916dup	NP_001305756.1:p.Arg1306ProfsTer45
NM_001318827.2:c.3796_3916dup	NP_001305756.1:p.Arg1306ProfsTer45
NM_001318829.1:c.3760_3880dup	NP_001305758.1:p.Arg1294ProfsTer45
NM_001318829.2:c.3760_3880dup	NP_001305758.1:p.Arg1294ProfsTer45
NM_001318831.1:c.3373_3493dup	NP_001305760.1:p.Arg1165ProfsTer45
NM_001318831.2:c.3373_3493dup	NP_001305760.1:p.Arg1165ProfsTer45
NM_001318832.1:c.3937_4057dup	NP_001305761.1:p.Arg1353ProfsTer45
NM_001318832.2:c.3937_4057dup	NP_001305761.1:p.Arg1353ProfsTer45
NM_001363528.1:c.3907_4027dup	NP_001350457.1:p.Arg1343ProfsTer45
NM_001363528.2:c.3907_4027dup	NP_001350457.1:p.Arg1343ProfsTer45
NM_001370404.1:c.3973_4093dup	NP_001357333.1:p.Arg1365ProfsTer45
NM_001370405.1:c.3976_4096dup	NP_001357334.1:p.Arg1366ProfsTer45
NM_021055.2:c.3976_4096dup	NP_066399.2:p.Arg1366ProfsTer45
NM_021055.3:c.3976_4096dup	NP_066399.2:p.Arg1366ProfsTer45
ENST00000219476.7:c.4105_4225dup	ENSP00000219476.3:p.Arg1409ProfsTer45
ENST00000350773.8:c.4036_4156dup	ENSP00000344383.4:p.Arg1386ProfsTer45
ENST00000350773.9:c.4036_4156dup	ENSP00000344383.4:p.Arg1386ProfsTer45
ENST00000382538.10:c.3760_3880dup	ENSP00000371978.6:p.Arg1294ProfsTer45
ENST00000401874.6:c.3904_4024dup	ENSP00000384468.2:p.Arg1342ProfsTer45
ENST00000401874.7:c.3904_4024dup	ENSP00000384468.2:p.Arg1342ProfsTer45
ENST00000439117.6:c.*3272_*3392dup	ENSP00000406980.2:n.*3272_*3392dup
ENST00000439673.6:c.3796_3916dup	ENSP00000399232.2:p.Arg1306ProfsTer45
ENST00000497886.5:n.1863_1983dup
ENST00000568454.5:c.3937_4057dup	ENSP00000454487.1:p.Arg1353ProfsTer45
ENST00000568454.6:c.3937_4057dup	ENSP00000454487.1:p.Arg1353ProfsTer45
ENST00000568566.6:c.*2454_*2574dup	ENSP00000455997.2:n.*2454_*2574dup
ENST00000569110.1:c.287_407dup
ENST00000569110.2:c.341_461dup
ENST00000569930.1:n.1220_1340dup
ENST00000569930.2:n.1987_2107dup
ENST00000642206.2:c.3952_4072dup	ENSP00000495146.2:p.Arg1358ProfsTer45
ENST00000642365.1:c.2759_2879dup
ENST00000642365.2:c.4102_4222dup	ENSP00000495459.2:p.Arg1408ProfsTer45
ENST00000642561.1:c.3976_4096dup	ENSP00000495099.1:p.Arg1366ProfsTer45
ENST00000642728.1:n.287_407dup
ENST00000642797.1:c.3907_4027dup	ENSP00000493846.1:p.Arg1343ProfsTer45
ENST00000642936.1:c.3973_4093dup	ENSP00000494514.1:p.Arg1365ProfsTer45
ENST00000643088.1:c.3904_4024dup	ENSP00000494747.1:p.Arg1342ProfsTer45
ENST00000643177.1:n.119_239dup
ENST00000643426.1:n.1753_1873dup
ENST00000643946.1:c.4036_4156dup	ENSP00000495927.1:p.Arg1386ProfsTer45
ENST00000644043.1:c.3976_4096dup	ENSP00000496262.1:p.Arg1366ProfsTer45
ENST00000644329.1:c.3904_4024dup	ENSP00000496611.1:p.Arg1342ProfsTer45
ENST00000644335.1:c.3907_4027dup	ENSP00000496317.1:p.Arg1343ProfsTer45
ENST00000644399.1:c.4026_4146dup
ENST00000644417.2:c.*4485_*4605dup	ENSP00000493912.2:n.*4485_*4605dup
ENST00000645024.1:n.2189_2309dup
ENST00000645186.1:c.348_468dup
ENST00000646388.1:c.4105_4225dup	ENSP00000495921.1:p.Arg1409ProfsTer45
ENST00000646464.2:c.*6854_*6974dup	ENSP00000496610.2:n.*6854_*6974dup
ENST00000646634.1:n.2920_3040dup
ENST00000646674.1:n.1357_1477dup
ENST00000647042.1:n.1328_1448dup
ENST00000647180.1:n.1218_1338dup
XM_005255529.3:c.3976_4096dup	XP_005255586.2:p.Arg1366ProfsTer45
XM_005255531.3:c.3907_4027dup	XP_005255588.2:p.Arg1343ProfsTer45
XM_005255531.4:c.3907_4027dup	XP_005255588.2:p.Arg1343ProfsTer45
XM_011522636.1:c.4159_4279dup	XP_011520938.1:p.Arg1427ProfsTer45
XM_011522636.2:c.4159_4279dup	XP_011520938.1:p.Arg1427ProfsTer45
XM_011522637.1:c.4156_4276dup	XP_011520939.1:p.Arg1426ProfsTer45
XM_011522637.2:c.4156_4276dup	XP_011520939.1:p.Arg1426ProfsTer45
XM_011522638.1:c.4048_4168dup	XP_011520940.1:p.Arg1390ProfsTer45
XM_011522638.2:c.4321_4441dup	XP_011520940.2:p.Arg1481ProfsTer45
XM_011522639.1:c.4030_4150dup	XP_011520941.1:p.Arg1384ProfsTer45
XM_011522639.2:c.4030_4150dup	XP_011520941.1:p.Arg1384ProfsTer45
XM_011522640.1:c.4027_4147dup	XP_011520942.1:p.Arg1383ProfsTer45
XM_011522640.2:c.4027_4147dup	XP_011520942.1:p.Arg1383ProfsTer45
XM_011522641.1:c.3796_3916dup	XP_011520943.1:p.Arg1306ProfsTer45
XM_017023615.1:c.4102_4222dup	XP_016879104.1:p.Arg1408ProfsTer45
XM_017023616.1:c.3973_4093dup	XP_016879105.1:p.Arg1365ProfsTer45
XM_017023617.1:c.4069_4189dup	XP_016879106.1:p.Arg1397ProfsTer45
XM_017023618.1:c.2815_2935dup	XP_016879107.1:p.Arg979ProfsTer45
XM_024450413.1:c.3904_4024dup	XP_024306181.1:p.Arg1342ProfsTer45