Canonical Allele Identifier: CA2202044830

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084545_2084546delinsCG , CM000678.2:g.2084545_2084546delinsCG	GRCh38
NC_000016.9:g.2134546_2134547delinsCG , CM000678.1:g.2134546_2134547delinsCG	GRCh37
NC_000016.8:g.2074547_2074548delinsCG	NCBI36
NG_005895.1:g.40240_40241delinsCG , LRG_487:g.40240_40241delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2672_*2673delinsCG	ENSP00000455997.2:n.*2672_*2673delinsCG
ENST00000642206.2:c.4170_4171delinsCG	ENSP00000495146.2:p.Pro1390=
ENST00000642365.2:c.4320_4321delinsCG	ENSP00000495459.2:p.Pro1440=
ENST00000644417.2:c.*4703_*4704delinsCG	ENSP00000493912.2:n.*4703_*4704delinsCG
ENST00000646464.2:c.*7072_*7073delinsCG	ENSP00000496610.2:n.*7072_*7073delinsCG
ENST00000219476.9:c.4323_4324delinsCG MANE Select	ENSP00000219476.3:p.Pro1441=
ENST00000350773.9:c.4254_4255delinsCG	ENSP00000344383.4:p.Pro1418=
ENST00000401874.7:c.4122_4123delinsCG	ENSP00000384468.2:p.Pro1374=
ENST00000568454.6:c.4155_4156delinsCG	ENSP00000454487.1:p.Pro1385=
ENST00000569110.2:c.559_560delinsCG
ENST00000569930.2:n.2205_2206delinsCG
ENST00000642365.1:c.2977_2978delinsCG
ENST00000642561.1:c.4194_4195delinsCG	ENSP00000495099.1:p.Pro1398=
ENST00000642728.1:n.505_506delinsCG
ENST00000642797.1:c.4125_4126delinsCG	ENSP00000493846.1:p.Pro1375=
ENST00000642936.1:c.4191_4192delinsCG	ENSP00000494514.1:p.Pro1397=
ENST00000643088.1:c.4122_4123delinsCG	ENSP00000494747.1:p.Pro1374=
ENST00000643177.1:n.337_338delinsCG
ENST00000643426.1:n.1971_1972delinsCG
ENST00000643946.1:c.4254_4255delinsCG	ENSP00000495927.1:p.Pro1418=
ENST00000644043.1:c.4194_4195delinsCG	ENSP00000496262.1:p.Pro1398=
ENST00000644329.1:c.4122_4123delinsCG	ENSP00000496611.1:p.Pro1374=
ENST00000644335.1:c.4125_4126delinsCG	ENSP00000496317.1:p.Pro1375=
ENST00000644399.1:c.4244_4245delinsCG
ENST00000645024.1:n.2407_2408delinsCG
ENST00000646388.1:c.4323_4324delinsCG	ENSP00000495921.1:p.Pro1441=
ENST00000646634.1:n.3138_3139delinsCG
ENST00000646674.1:n.1575_1576delinsCG
ENST00000647042.1:n.1546_1547delinsCG
ENST00000647180.1:n.1436_1437delinsCG
ENST00000219476.7:c.4323_4324delinsCG	ENSP00000219476.3:p.Pro1441=
ENST00000350773.8:c.4254_4255delinsCG	ENSP00000344383.4:p.Pro1418=
ENST00000382538.10:c.3978_3979delinsCG	ENSP00000371978.6:p.Pro1326=
ENST00000401874.6:c.4122_4123delinsCG	ENSP00000384468.2:p.Pro1374=
ENST00000439117.6:c.*3490_*3491delinsCG	ENSP00000406980.2:n.*3490_*3491delinsCG
ENST00000439673.6:c.4014_4015delinsCG	ENSP00000399232.2:p.Pro1338=
ENST00000497886.5:n.2081_2082delinsCG
ENST00000568454.5:c.4155_4156delinsCG	ENSP00000454487.1:p.Pro1385=
ENST00000569110.1:c.505_506delinsCG
ENST00000569930.1:n.1438_1439delinsCG
NM_000548.3:c.4323_4324delinsCG , LRG_487t1:c.4323_4324delinsCG	NP_000539.2:p.Pro1441=
NM_001077183.1:c.4122_4123delinsCG	NP_001070651.1:p.Pro1374=
NM_001114382.1:c.4254_4255delinsCG	NP_001107854.1:p.Pro1418=
XM_005255529.3:c.4194_4195delinsCG	XP_005255586.2:p.Pro1398=
XM_005255531.3:c.4125_4126delinsCG	XP_005255588.2:p.Pro1375=
XM_011522636.1:c.4377_4378delinsCG	XP_011520938.1:p.Pro1459=
XM_011522637.1:c.4374_4375delinsCG	XP_011520939.1:p.Pro1458=
XM_011522638.1:c.4266_4267delinsCG	XP_011520940.1:p.Pro1422=
XM_011522639.1:c.4248_4249delinsCG	XP_011520941.1:p.Pro1416=
XM_011522640.1:c.4245_4246delinsCG	XP_011520942.1:p.Pro1415=
XM_011522641.1:c.4014_4015delinsCG	XP_011520943.1:p.Pro1338=
NM_000548.4:c.4323_4324delinsCG	NP_000539.2:p.Pro1441=
NM_001077183.2:c.4122_4123delinsCG	NP_001070651.1:p.Pro1374=
NM_001114382.2:c.4254_4255delinsCG	NP_001107854.1:p.Pro1418=
NM_001318827.1:c.4014_4015delinsCG	NP_001305756.1:p.Pro1338=
NM_001318829.1:c.3978_3979delinsCG	NP_001305758.1:p.Pro1326=
NM_001318831.1:c.3591_3592delinsCG	NP_001305760.1:p.Pro1197=
NM_001318832.1:c.4155_4156delinsCG	NP_001305761.1:p.Pro1385=
NM_001363528.1:c.4125_4126delinsCG	NP_001350457.1:p.Pro1375=
NM_021055.2:c.4194_4195delinsCG	NP_066399.2:p.Pro1398=
XM_005255531.4:c.4125_4126delinsCG	XP_005255588.2:p.Pro1375=
XM_011522636.2:c.4377_4378delinsCG	XP_011520938.1:p.Pro1459=
XM_011522637.2:c.4374_4375delinsCG	XP_011520939.1:p.Pro1458=
XM_011522638.2:c.4539_4540delinsCG	XP_011520940.2:p.Pro1513=
XM_011522639.2:c.4248_4249delinsCG	XP_011520941.1:p.Pro1416=
XM_011522640.2:c.4245_4246delinsCG	XP_011520942.1:p.Pro1415=
XM_017023615.1:c.4320_4321delinsCG	XP_016879104.1:p.Pro1440=
XM_017023616.1:c.4191_4192delinsCG	XP_016879105.1:p.Pro1397=
XM_017023617.1:c.4287_4288delinsCG	XP_016879106.1:p.Pro1429=
XM_017023618.1:c.3033_3034delinsCG	XP_016879107.1:p.Pro1011=
XM_024450413.1:c.4122_4123delinsCG	XP_024306181.1:p.Pro1374=
NM_000548.5:c.4323_4324delinsCG MANE Select	NP_000539.2:p.Pro1441=
NM_001370404.1:c.4191_4192delinsCG	NP_001357333.1:p.Pro1397=
NM_001370405.1:c.4194_4195delinsCG	NP_001357334.1:p.Pro1398=
NM_001077183.3:c.4122_4123delinsCG	NP_001070651.1:p.Pro1374=
NM_001114382.3:c.4254_4255delinsCG	NP_001107854.1:p.Pro1418=
NM_001318827.2:c.4014_4015delinsCG	NP_001305756.1:p.Pro1338=
NM_001318829.2:c.3978_3979delinsCG	NP_001305758.1:p.Pro1326=
NM_001318831.2:c.3591_3592delinsCG	NP_001305760.1:p.Pro1197=
NM_001318832.2:c.4155_4156delinsCG	NP_001305761.1:p.Pro1385=
NM_001363528.2:c.4125_4126delinsCG	NP_001350457.1:p.Pro1375=
NM_021055.3:c.4194_4195delinsCG	NP_066399.2:p.Pro1398=