Canonical Allele Identifier: CA2201991442

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064314_2064315delinsAT , CM000678.2:g.2064314_2064315delinsAT	GRCh38
NC_000016.9:g.2114315_2114316delinsAT , CM000678.1:g.2114315_2114316delinsAT	GRCh37
NC_000016.8:g.2054316_2054317delinsAT	NCBI36
NG_005895.1:g.20009_20010delinsAT , LRG_487:g.20009_20010delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*33_*34delinsAT	ENSP00000455997.2:n.*33_*34delinsAT
ENST00000642206.2:c.1531_1532delinsAT	ENSP00000495146.2:p.Ile511=
ENST00000642365.2:c.1486_1487delinsAT	ENSP00000495459.2:p.Ile496=
ENST00000644417.2:c.*923_*924delinsAT	ENSP00000493912.2:n.*923_*924delinsAT
ENST00000646464.2:c.*1091_*1092delinsAT	ENSP00000496610.2:n.*1091_*1092delinsAT
ENST00000219476.9:c.1486_1487delinsAT MANE Select	ENSP00000219476.3:p.Ile496=
ENST00000350773.9:c.1486_1487delinsAT	ENSP00000344383.4:p.Ile496=
ENST00000401874.7:c.1486_1487delinsAT	ENSP00000384468.2:p.Ile496=
ENST00000463601.2:n.1614_1615delinsAT
ENST00000568454.6:c.1519_1520delinsAT	ENSP00000454487.1:p.Ile507=
ENST00000642365.1:c.143_144delinsAT
ENST00000642561.1:c.1486_1487delinsAT	ENSP00000495099.1:p.Ile496=
ENST00000642797.1:c.1486_1487delinsAT	ENSP00000493846.1:p.Ile496=
ENST00000642812.1:n.1531_1532delinsAT
ENST00000642936.1:c.1486_1487delinsAT	ENSP00000494514.1:p.Ile496=
ENST00000643088.1:c.1486_1487delinsAT	ENSP00000494747.1:p.Ile496=
ENST00000643149.1:n.3496_3497delinsAT
ENST00000643298.1:c.*988_*989delinsAT	ENSP00000494393.1:n.*988_*989delinsAT
ENST00000643745.1:c.*418_*419delinsAT	ENSP00000495948.1:n.*418_*419delinsAT
ENST00000643946.1:c.1486_1487delinsAT	ENSP00000495927.1:p.Ile496=
ENST00000644043.1:c.1486_1487delinsAT	ENSP00000496262.1:p.Ile496=
ENST00000644135.1:c.1486_1487delinsAT	ENSP00000495644.1:p.Ile496=
ENST00000644222.1:n.1573_1574delinsAT
ENST00000644329.1:c.1486_1487delinsAT	ENSP00000496611.1:p.Ile496=
ENST00000644335.1:c.1486_1487delinsAT	ENSP00000496317.1:p.Ile496=
ENST00000644399.1:c.1479_1480delinsAT
ENST00000644665.1:n.2660_2661delinsAT
ENST00000644847.1:n.478_479delinsAT
ENST00000645591.1:n.2544_2545delinsAT
ENST00000646388.1:c.1486_1487delinsAT	ENSP00000495921.1:p.Ile496=
ENST00000646634.1:n.499_500delinsAT
ENST00000647234.1:n.3244_3245delinsAT
ENST00000647242.1:n.2122_2123delinsAT
ENST00000219476.7:c.1486_1487delinsAT	ENSP00000219476.3:p.Ile496=
ENST00000350773.8:c.1486_1487delinsAT	ENSP00000344383.4:p.Ile496=
ENST00000382538.10:c.1339_1340delinsAT	ENSP00000371978.6:p.Ile447=
ENST00000401874.6:c.1486_1487delinsAT	ENSP00000384468.2:p.Ile496=
ENST00000439117.6:c.*785_*786delinsAT	ENSP00000406980.2:n.*785_*786delinsAT
ENST00000439673.6:c.1375_1376delinsAT	ENSP00000399232.2:p.Ile459=
ENST00000490108.1:n.259_260delinsAT
ENST00000568238.1:n.244_245delinsAT
ENST00000568454.5:c.1519_1520delinsAT	ENSP00000454487.1:p.Ile507=
ENST00000568566.5:c.126_127delinsAT	ENSP00000455997.1:n.126_127delinsAT
NM_000548.3:c.1486_1487delinsAT , LRG_487t1:c.1486_1487delinsAT	NP_000539.2:p.Ile496=
NM_001077183.1:c.1486_1487delinsAT	NP_001070651.1:p.Ile496=
NM_001114382.1:c.1486_1487delinsAT	NP_001107854.1:p.Ile496=
XM_005255529.3:c.1486_1487delinsAT	XP_005255586.2:p.Ile496=
XM_005255531.3:c.1486_1487delinsAT	XP_005255588.2:p.Ile496=
XM_011522636.1:c.1486_1487delinsAT	XP_011520938.1:p.Ile496=
XM_011522637.1:c.1486_1487delinsAT	XP_011520939.1:p.Ile496=
XM_011522638.1:c.1375_1376delinsAT	XP_011520940.1:p.Ile459=
XM_011522639.1:c.1486_1487delinsAT	XP_011520941.1:p.Ile496=
XM_011522640.1:c.1486_1487delinsAT	XP_011520942.1:p.Ile496=
XM_011522641.1:c.1375_1376delinsAT	XP_011520943.1:p.Ile459=
NM_000548.4:c.1486_1487delinsAT	NP_000539.2:p.Ile496=
NM_001077183.2:c.1486_1487delinsAT	NP_001070651.1:p.Ile496=
NM_001114382.2:c.1486_1487delinsAT	NP_001107854.1:p.Ile496=
NM_001318827.1:c.1375_1376delinsAT	NP_001305756.1:p.Ile459=
NM_001318829.1:c.1339_1340delinsAT	NP_001305758.1:p.Ile447=
NM_001318831.1:c.886_887delinsAT	NP_001305760.1:p.Ile296=
NM_001318832.1:c.1519_1520delinsAT	NP_001305761.1:p.Ile507=
NM_001363528.1:c.1486_1487delinsAT	NP_001350457.1:p.Ile496=
NM_021055.2:c.1486_1487delinsAT	NP_066399.2:p.Ile496=
XM_005255531.4:c.1486_1487delinsAT	XP_005255588.2:p.Ile496=
XM_011522636.2:c.1486_1487delinsAT	XP_011520938.1:p.Ile496=
XM_011522637.2:c.1486_1487delinsAT	XP_011520939.1:p.Ile496=
XM_011522638.2:c.1648_1649delinsAT	XP_011520940.2:p.Ile550=
XM_011522639.2:c.1486_1487delinsAT	XP_011520941.1:p.Ile496=
XM_011522640.2:c.1486_1487delinsAT	XP_011520942.1:p.Ile496=
XM_017023615.1:c.1486_1487delinsAT	XP_016879104.1:p.Ile496=
XM_017023616.1:c.1486_1487delinsAT	XP_016879105.1:p.Ile496=
XM_017023617.1:c.1648_1649delinsAT	XP_016879106.1:p.Ile550=
XM_017023618.1:c.142_143delinsAT	XP_016879107.1:p.Ile48=
XM_024450413.1:c.1486_1487delinsAT	XP_024306181.1:p.Ile496=
NM_000548.5:c.1486_1487delinsAT MANE Select	NP_000539.2:p.Ile496=
NM_001370404.1:c.1486_1487delinsAT	NP_001357333.1:p.Ile496=
NM_001370405.1:c.1486_1487delinsAT	NP_001357334.1:p.Ile496=
NM_001077183.3:c.1486_1487delinsAT	NP_001070651.1:p.Ile496=
NM_001114382.3:c.1486_1487delinsAT	NP_001107854.1:p.Ile496=
NM_001318827.2:c.1375_1376delinsAT	NP_001305756.1:p.Ile459=
NM_001318829.2:c.1339_1340delinsAT	NP_001305758.1:p.Ile447=
NM_001318831.2:c.886_887delinsAT	NP_001305760.1:p.Ile296=
NM_001318832.2:c.1519_1520delinsAT	NP_001305761.1:p.Ile507=
NM_001363528.2:c.1486_1487delinsAT	NP_001350457.1:p.Ile496=
NM_021055.3:c.1486_1487delinsAT	NP_066399.2:p.Ile496=