Canonical Allele Identifier: CA3249353731

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2062981_2062982delinsTT , CM000678.2:g.2062981_2062982delinsTT	GRCh38
NC_000016.9:g.2112982_2112983delinsTT , CM000678.1:g.2112982_2112983delinsTT	GRCh37
NC_000016.8:g.2052983_2052984delinsTT	NCBI36
NG_005895.1:g.18676_18677delinsTT , LRG_487:g.18676_18677delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.1371_1372delinsTT MANE Select	NP_000539.2:p.Ser458Ter
ENST00000219476.9:c.1371_1372delinsTT MANE Select	ENSP00000219476.3:p.Ser458Ter
NM_000548.3:c.1371_1372delinsTT , LRG_487t1:c.1371_1372delinsTT	NP_000539.2:p.Ser458Ter
NM_000548.4:c.1371_1372delinsTT	NP_000539.2:p.Ser458Ter
NM_001077183.1:c.1371_1372delinsTT	NP_001070651.1:p.Ser458Ter
NM_001077183.2:c.1371_1372delinsTT	NP_001070651.1:p.Ser458Ter
NM_001077183.3:c.1371_1372delinsTT	NP_001070651.1:p.Ser458Ter
NM_001114382.1:c.1371_1372delinsTT	NP_001107854.1:p.Ser458Ter
NM_001114382.2:c.1371_1372delinsTT	NP_001107854.1:p.Ser458Ter
NM_001114382.3:c.1371_1372delinsTT	NP_001107854.1:p.Ser458Ter
NM_001318827.1:c.1260_1261delinsTT	NP_001305756.1:p.Ser421Ter
NM_001318827.2:c.1260_1261delinsTT	NP_001305756.1:p.Ser421Ter
NM_001318829.1:c.1224_1225delinsTT	NP_001305758.1:p.Ser409Ter
NM_001318829.2:c.1224_1225delinsTT	NP_001305758.1:p.Ser409Ter
NM_001318831.1:c.771_772delinsTT	NP_001305760.1:p.Ser258Ter
NM_001318831.2:c.771_772delinsTT	NP_001305760.1:p.Ser258Ter
NM_001318832.1:c.1404_1405delinsTT	NP_001305761.1:p.Ser469Ter
NM_001318832.2:c.1404_1405delinsTT	NP_001305761.1:p.Ser469Ter
NM_001363528.1:c.1371_1372delinsTT	NP_001350457.1:p.Ser458Ter
NM_001363528.2:c.1371_1372delinsTT	NP_001350457.1:p.Ser458Ter
NM_001370404.1:c.1371_1372delinsTT	NP_001357333.1:p.Ser458Ter
NM_001370405.1:c.1371_1372delinsTT	NP_001357334.1:p.Ser458Ter
NM_021055.2:c.1371_1372delinsTT	NP_066399.2:p.Ser458Ter
NM_021055.3:c.1371_1372delinsTT	NP_066399.2:p.Ser458Ter
ENST00000219476.7:c.1371_1372delinsTT	ENSP00000219476.3:p.Ser458Ter
ENST00000350773.8:c.1371_1372delinsTT	ENSP00000344383.4:p.Ser458Ter
ENST00000350773.9:c.1371_1372delinsTT	ENSP00000344383.4:p.Ser458Ter
ENST00000382538.10:c.1224_1225delinsTT	ENSP00000371978.6:p.Ser409Ter
ENST00000401874.6:c.1371_1372delinsTT	ENSP00000384468.2:p.Ser458Ter
ENST00000401874.7:c.1371_1372delinsTT	ENSP00000384468.2:p.Ser458Ter
ENST00000439117.6:c.*670_*671delinsTT	ENSP00000406980.2:n.*670_*671delinsTT
ENST00000439673.6:c.1260_1261delinsTT	ENSP00000399232.2:p.Ser421Ter
ENST00000463601.1:n.534_535delinsTT
ENST00000463601.2:n.281_282delinsTT
ENST00000467949.1:c.525_526delinsTT	ENSP00000454997.1:p.Ser176Ter
ENST00000467949.2:n.541_542delinsTT
ENST00000490108.1:n.144_145delinsTT
ENST00000568454.5:c.1404_1405delinsTT	ENSP00000454487.1:p.Ser469Ter
ENST00000568454.6:c.1404_1405delinsTT	ENSP00000454487.1:p.Ser469Ter
ENST00000568566.5:c.83+381_83+382delinsTT	ENSP00000455997.1:n.83+381_83+382delinsTT
ENST00000568566.6:c.1361+381_1361+382delinsTT	ENSP00000455997.2:n.1361+381_1361+382delinsTT
ENST00000642206.2:c.1416_1417delinsTT	ENSP00000495146.2:p.Ser473Ter
ENST00000642365.1:c.28_29delinsTT
ENST00000642365.2:c.1371_1372delinsTT	ENSP00000495459.2:p.Ser458Ter
ENST00000642561.1:c.1371_1372delinsTT	ENSP00000495099.1:p.Ser458Ter
ENST00000642797.1:c.1371_1372delinsTT	ENSP00000493846.1:p.Ser458Ter
ENST00000642812.1:n.1416_1417delinsTT
ENST00000642936.1:c.1371_1372delinsTT	ENSP00000494514.1:p.Ser458Ter
ENST00000643088.1:c.1371_1372delinsTT	ENSP00000494747.1:p.Ser458Ter
ENST00000643149.1:n.3381_3382delinsTT
ENST00000643298.1:c.*873_*874delinsTT	ENSP00000494393.1:n.*873_*874delinsTT
ENST00000643745.1:c.*303_*304delinsTT	ENSP00000495948.1:n.*303_*304delinsTT
ENST00000643946.1:c.1371_1372delinsTT	ENSP00000495927.1:p.Ser458Ter
ENST00000644043.1:c.1371_1372delinsTT	ENSP00000496262.1:p.Ser458Ter
ENST00000644135.1:c.1371_1372delinsTT	ENSP00000495644.1:p.Ser458Ter
ENST00000644222.1:n.1458_1459delinsTT
ENST00000644329.1:c.1371_1372delinsTT	ENSP00000496611.1:p.Ser458Ter
ENST00000644335.1:c.1371_1372delinsTT	ENSP00000496317.1:p.Ser458Ter
ENST00000644399.1:c.1364_1365delinsTT
ENST00000644417.2:c.*808_*809delinsTT	ENSP00000493912.2:n.*808_*809delinsTT
ENST00000644665.1:n.2545_2546delinsTT
ENST00000644847.1:n.363_364delinsTT
ENST00000645591.1:n.2429_2430delinsTT
ENST00000646388.1:c.1371_1372delinsTT	ENSP00000495921.1:p.Ser458Ter
ENST00000646464.2:c.*976_*977delinsTT	ENSP00000496610.2:n.*976_*977delinsTT
ENST00000646634.1:n.384_385delinsTT
ENST00000647234.1:n.3129_3130delinsTT
ENST00000647242.1:n.2007_2008delinsTT
XM_005255529.3:c.1371_1372delinsTT	XP_005255586.2:p.Ser458Ter
XM_005255531.3:c.1371_1372delinsTT	XP_005255588.2:p.Ser458Ter
XM_005255531.4:c.1371_1372delinsTT	XP_005255588.2:p.Ser458Ter
XM_011522636.1:c.1371_1372delinsTT	XP_011520938.1:p.Ser458Ter
XM_011522636.2:c.1371_1372delinsTT	XP_011520938.1:p.Ser458Ter
XM_011522637.1:c.1371_1372delinsTT	XP_011520939.1:p.Ser458Ter
XM_011522637.2:c.1371_1372delinsTT	XP_011520939.1:p.Ser458Ter
XM_011522638.1:c.1260_1261delinsTT	XP_011520940.1:p.Ser421Ter
XM_011522638.2:c.1533_1534delinsTT	XP_011520940.2:p.Ser512Ter
XM_011522639.1:c.1371_1372delinsTT	XP_011520941.1:p.Ser458Ter
XM_011522639.2:c.1371_1372delinsTT	XP_011520941.1:p.Ser458Ter
XM_011522640.1:c.1371_1372delinsTT	XP_011520942.1:p.Ser458Ter
XM_011522640.2:c.1371_1372delinsTT	XP_011520942.1:p.Ser458Ter
XM_011522641.1:c.1260_1261delinsTT	XP_011520943.1:p.Ser421Ter
XM_017023615.1:c.1371_1372delinsTT	XP_016879104.1:p.Ser458Ter
XM_017023616.1:c.1371_1372delinsTT	XP_016879105.1:p.Ser458Ter
XM_017023617.1:c.1533_1534delinsTT	XP_016879106.1:p.Ser512Ter
XM_017023618.1:c.27_28delinsTT	XP_016879107.1:p.Ser10Ter
XM_024450413.1:c.1371_1372delinsTT	XP_024306181.1:p.Ser458Ter