Canonical Allele Identifier: CA394300197

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084448G>T , CM000678.2:g.2084448G>T	GRCh38
NC_000016.9:g.2134449G>T , CM000678.1:g.2134449G>T	GRCh37
NC_000016.8:g.2074450G>T	NCBI36
NG_005895.1:g.40143G>T , LRG_487:g.40143G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4226G>T MANE Select	NP_000539.2:p.Arg1409Leu
ENST00000219476.9:c.4226G>T MANE Select	ENSP00000219476.3:p.Arg1409Leu
NM_000548.3:c.4226G>T , LRG_487t1:c.4226G>T	NP_000539.2:p.Arg1409Leu
NM_000548.4:c.4226G>T	NP_000539.2:p.Arg1409Leu
NM_001077183.1:c.4025G>T	NP_001070651.1:p.Arg1342Leu
NM_001077183.2:c.4025G>T	NP_001070651.1:p.Arg1342Leu
NM_001077183.3:c.4025G>T	NP_001070651.1:p.Arg1342Leu
NM_001114382.1:c.4157G>T	NP_001107854.1:p.Arg1386Leu
NM_001114382.2:c.4157G>T	NP_001107854.1:p.Arg1386Leu
NM_001114382.3:c.4157G>T	NP_001107854.1:p.Arg1386Leu
NM_001318827.1:c.3917G>T	NP_001305756.1:p.Arg1306Leu
NM_001318827.2:c.3917G>T	NP_001305756.1:p.Arg1306Leu
NM_001318829.1:c.3881G>T	NP_001305758.1:p.Arg1294Leu
NM_001318829.2:c.3881G>T	NP_001305758.1:p.Arg1294Leu
NM_001318831.1:c.3494G>T	NP_001305760.1:p.Arg1165Leu
NM_001318831.2:c.3494G>T	NP_001305760.1:p.Arg1165Leu
NM_001318832.1:c.4058G>T	NP_001305761.1:p.Arg1353Leu
NM_001318832.2:c.4058G>T	NP_001305761.1:p.Arg1353Leu
NM_001363528.1:c.4028G>T	NP_001350457.1:p.Arg1343Leu
NM_001363528.2:c.4028G>T	NP_001350457.1:p.Arg1343Leu
NM_001370404.1:c.4094G>T	NP_001357333.1:p.Arg1365Leu
NM_001370405.1:c.4097G>T	NP_001357334.1:p.Arg1366Leu
NM_021055.2:c.4097G>T	NP_066399.2:p.Arg1366Leu
NM_021055.3:c.4097G>T	NP_066399.2:p.Arg1366Leu
ENST00000219476.7:c.4226G>T	ENSP00000219476.3:p.Arg1409Leu
ENST00000350773.8:c.4157G>T	ENSP00000344383.4:p.Arg1386Leu
ENST00000350773.9:c.4157G>T	ENSP00000344383.4:p.Arg1386Leu
ENST00000382538.10:c.3881G>T	ENSP00000371978.6:p.Arg1294Leu
ENST00000401874.6:c.4025G>T	ENSP00000384468.2:p.Arg1342Leu
ENST00000401874.7:c.4025G>T	ENSP00000384468.2:p.Arg1342Leu
ENST00000439117.6:c.*3393G>T	ENSP00000406980.2:n.*3393G>T
ENST00000439673.6:c.3917G>T	ENSP00000399232.2:p.Arg1306Leu
ENST00000497886.5:n.1984G>T
ENST00000568454.5:c.4058G>T	ENSP00000454487.1:p.Arg1353Leu
ENST00000568454.6:c.4058G>T	ENSP00000454487.1:p.Arg1353Leu
ENST00000568566.6:c.*2575G>T	ENSP00000455997.2:n.*2575G>T
ENST00000569110.1:c.408G>T
ENST00000569110.2:c.462G>T
ENST00000569930.1:n.1341G>T
ENST00000569930.2:n.2108G>T
ENST00000642206.2:c.4073G>T	ENSP00000495146.2:p.Arg1358Leu
ENST00000642365.1:c.2880G>T
ENST00000642365.2:c.4223G>T	ENSP00000495459.2:p.Arg1408Leu
ENST00000642561.1:c.4097G>T	ENSP00000495099.1:p.Arg1366Leu
ENST00000642728.1:n.408G>T
ENST00000642797.1:c.4028G>T	ENSP00000493846.1:p.Arg1343Leu
ENST00000642936.1:c.4094G>T	ENSP00000494514.1:p.Arg1365Leu
ENST00000643088.1:c.4025G>T	ENSP00000494747.1:p.Arg1342Leu
ENST00000643177.1:n.240G>T
ENST00000643426.1:n.1874G>T
ENST00000643946.1:c.4157G>T	ENSP00000495927.1:p.Arg1386Leu
ENST00000644043.1:c.4097G>T	ENSP00000496262.1:p.Arg1366Leu
ENST00000644329.1:c.4025G>T	ENSP00000496611.1:p.Arg1342Leu
ENST00000644335.1:c.4028G>T	ENSP00000496317.1:p.Arg1343Leu
ENST00000644399.1:c.4147G>T
ENST00000644417.2:c.*4606G>T	ENSP00000493912.2:n.*4606G>T
ENST00000645024.1:n.2310G>T
ENST00000645186.1:c.469G>T
ENST00000646388.1:c.4226G>T	ENSP00000495921.1:p.Arg1409Leu
ENST00000646464.2:c.*6975G>T	ENSP00000496610.2:n.*6975G>T
ENST00000646634.1:n.3041G>T
ENST00000646674.1:n.1478G>T
ENST00000647042.1:n.1449G>T
ENST00000647180.1:n.1339G>T
XM_005255529.3:c.4097G>T	XP_005255586.2:p.Arg1366Leu
XM_005255531.3:c.4028G>T	XP_005255588.2:p.Arg1343Leu
XM_005255531.4:c.4028G>T	XP_005255588.2:p.Arg1343Leu
XM_011522636.1:c.4280G>T	XP_011520938.1:p.Arg1427Leu
XM_011522636.2:c.4280G>T	XP_011520938.1:p.Arg1427Leu
XM_011522637.1:c.4277G>T	XP_011520939.1:p.Arg1426Leu
XM_011522637.2:c.4277G>T	XP_011520939.1:p.Arg1426Leu
XM_011522638.1:c.4169G>T	XP_011520940.1:p.Arg1390Leu
XM_011522638.2:c.4442G>T	XP_011520940.2:p.Arg1481Leu
XM_011522639.1:c.4151G>T	XP_011520941.1:p.Arg1384Leu
XM_011522639.2:c.4151G>T	XP_011520941.1:p.Arg1384Leu
XM_011522640.1:c.4148G>T	XP_011520942.1:p.Arg1383Leu
XM_011522640.2:c.4148G>T	XP_011520942.1:p.Arg1383Leu
XM_011522641.1:c.3917G>T	XP_011520943.1:p.Arg1306Leu
XM_017023615.1:c.4223G>T	XP_016879104.1:p.Arg1408Leu
XM_017023616.1:c.4094G>T	XP_016879105.1:p.Arg1365Leu
XM_017023617.1:c.4190G>T	XP_016879106.1:p.Arg1397Leu
XM_017023618.1:c.2936G>T	XP_016879107.1:p.Arg979Leu
XM_024450413.1:c.4025G>T	XP_024306181.1:p.Arg1342Leu