Canonical Allele Identifier: CA915946303

Gene: TSC2

Linked Data

• ClinVar Variation Id: 824784
• ClinVar RCV Id: RCV001022278
• dbSNP Id: rs1596417514

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084537_2084538insTCG , CM000678.2:g.2084537_2084538insTCG	GRCh38
NC_000016.9:g.2134538_2134539insTCG , CM000678.1:g.2134538_2134539insTCG	GRCh37
NC_000016.8:g.2074539_2074540insTCG	NCBI36
NG_005895.1:g.40232_40233insTCG , LRG_487:g.40232_40233insTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2664_*2665insTCG	ENSP00000455997.2:n.*2664_*2665insTCG
ENST00000642206.2:c.4162_4163insTCG	ENSP00000495146.2:p.Arg1387_Gly1388insVal
ENST00000642365.2:c.4312_4313insTCG	ENSP00000495459.2:p.Arg1437_Gly1438insVal
ENST00000644417.2:c.*4695_*4696insTCG	ENSP00000493912.2:n.*4695_*4696insTCG
ENST00000646464.2:c.*7064_*7065insTCG	ENSP00000496610.2:n.*7064_*7065insTCG
ENST00000219476.9:c.4315_4316insTCG MANE Select	ENSP00000219476.3:p.Arg1438_Gly1439insVal
ENST00000350773.9:c.4246_4247insTCG	ENSP00000344383.4:p.Arg1415_Gly1416insVal
ENST00000401874.7:c.4114_4115insTCG	ENSP00000384468.2:p.Arg1371_Gly1372insVal
ENST00000568454.6:c.4147_4148insTCG	ENSP00000454487.1:p.Arg1382_Gly1383insVal
ENST00000569110.2:c.551_552insTCG
ENST00000569930.2:n.2197_2198insTCG
ENST00000642365.1:c.2969_2970insTCG
ENST00000642561.1:c.4186_4187insTCG	ENSP00000495099.1:p.Arg1395_Gly1396insVal
ENST00000642728.1:n.497_498insTCG
ENST00000642797.1:c.4117_4118insTCG	ENSP00000493846.1:p.Arg1372_Gly1373insVal
ENST00000642936.1:c.4183_4184insTCG	ENSP00000494514.1:p.Arg1394_Gly1395insVal
ENST00000643088.1:c.4114_4115insTCG	ENSP00000494747.1:p.Arg1371_Gly1372insVal
ENST00000643177.1:n.329_330insTCG
ENST00000643426.1:n.1963_1964insTCG
ENST00000643946.1:c.4246_4247insTCG	ENSP00000495927.1:p.Arg1415_Gly1416insVal
ENST00000644043.1:c.4186_4187insTCG	ENSP00000496262.1:p.Arg1395_Gly1396insVal
ENST00000644329.1:c.4114_4115insTCG	ENSP00000496611.1:p.Arg1371_Gly1372insVal
ENST00000644335.1:c.4117_4118insTCG	ENSP00000496317.1:p.Arg1372_Gly1373insVal
ENST00000644399.1:c.4236_4237insTCG
ENST00000645024.1:n.2399_2400insTCG
ENST00000646388.1:c.4315_4316insTCG	ENSP00000495921.1:p.Arg1438_Gly1439insVal
ENST00000646634.1:n.3130_3131insTCG
ENST00000646674.1:n.1567_1568insTCG
ENST00000647042.1:n.1538_1539insTCG
ENST00000647180.1:n.1428_1429insTCG
ENST00000219476.7:c.4315_4316insTCG	ENSP00000219476.3:p.Arg1438_Gly1439insVal
ENST00000350773.8:c.4246_4247insTCG	ENSP00000344383.4:p.Arg1415_Gly1416insVal
ENST00000382538.10:c.3970_3971insTCG	ENSP00000371978.6:p.Arg1323_Gly1324insVal
ENST00000401874.6:c.4114_4115insTCG	ENSP00000384468.2:p.Arg1371_Gly1372insVal
ENST00000439117.6:c.*3482_*3483insTCG	ENSP00000406980.2:n.*3482_*3483insTCG
ENST00000439673.6:c.4006_4007insTCG	ENSP00000399232.2:p.Arg1335_Gly1336insVal
ENST00000497886.5:n.2073_2074insTCG
ENST00000568454.5:c.4147_4148insTCG	ENSP00000454487.1:p.Arg1382_Gly1383insVal
ENST00000569110.1:c.497_498insTCG
ENST00000569930.1:n.1430_1431insTCG
NM_000548.3:c.4315_4316insTCG , LRG_487t1:c.4315_4316insTCG	NP_000539.2:p.Arg1438_Gly1439insVal
NM_001077183.1:c.4114_4115insTCG	NP_001070651.1:p.Arg1371_Gly1372insVal
NM_001114382.1:c.4246_4247insTCG	NP_001107854.1:p.Arg1415_Gly1416insVal
XM_005255529.3:c.4186_4187insTCG	XP_005255586.2:p.Arg1395_Gly1396insVal
XM_005255531.3:c.4117_4118insTCG	XP_005255588.2:p.Arg1372_Gly1373insVal
XM_011522636.1:c.4369_4370insTCG	XP_011520938.1:p.Arg1456_Gly1457insVal
XM_011522637.1:c.4366_4367insTCG	XP_011520939.1:p.Arg1455_Gly1456insVal
XM_011522638.1:c.4258_4259insTCG	XP_011520940.1:p.Arg1419_Gly1420insVal
XM_011522639.1:c.4240_4241insTCG	XP_011520941.1:p.Arg1413_Gly1414insVal
XM_011522640.1:c.4237_4238insTCG	XP_011520942.1:p.Arg1412_Gly1413insVal
XM_011522641.1:c.4006_4007insTCG	XP_011520943.1:p.Arg1335_Gly1336insVal
NM_000548.4:c.4315_4316insTCG	NP_000539.2:p.Arg1438_Gly1439insVal
NM_001077183.2:c.4114_4115insTCG	NP_001070651.1:p.Arg1371_Gly1372insVal
NM_001114382.2:c.4246_4247insTCG	NP_001107854.1:p.Arg1415_Gly1416insVal
NM_001318827.1:c.4006_4007insTCG	NP_001305756.1:p.Arg1335_Gly1336insVal
NM_001318829.1:c.3970_3971insTCG	NP_001305758.1:p.Arg1323_Gly1324insVal
NM_001318831.1:c.3583_3584insTCG	NP_001305760.1:p.Arg1194_Gly1195insVal
NM_001318832.1:c.4147_4148insTCG	NP_001305761.1:p.Arg1382_Gly1383insVal
NM_001363528.1:c.4117_4118insTCG	NP_001350457.1:p.Arg1372_Gly1373insVal
NM_021055.2:c.4186_4187insTCG	NP_066399.2:p.Arg1395_Gly1396insVal
XM_005255531.4:c.4117_4118insTCG	XP_005255588.2:p.Arg1372_Gly1373insVal
XM_011522636.2:c.4369_4370insTCG	XP_011520938.1:p.Arg1456_Gly1457insVal
XM_011522637.2:c.4366_4367insTCG	XP_011520939.1:p.Arg1455_Gly1456insVal
XM_011522638.2:c.4531_4532insTCG	XP_011520940.2:p.Arg1510_Gly1511insVal
XM_011522639.2:c.4240_4241insTCG	XP_011520941.1:p.Arg1413_Gly1414insVal
XM_011522640.2:c.4237_4238insTCG	XP_011520942.1:p.Arg1412_Gly1413insVal
XM_017023615.1:c.4312_4313insTCG	XP_016879104.1:p.Arg1437_Gly1438insVal
XM_017023616.1:c.4183_4184insTCG	XP_016879105.1:p.Arg1394_Gly1395insVal
XM_017023617.1:c.4279_4280insTCG	XP_016879106.1:p.Arg1426_Gly1427insVal
XM_017023618.1:c.3025_3026insTCG	XP_016879107.1:p.Arg1008_Gly1009insVal
XM_024450413.1:c.4114_4115insTCG	XP_024306181.1:p.Arg1371_Gly1372insVal
NM_000548.5:c.4315_4316insTCG MANE Select	NP_000539.2:p.Arg1438_Gly1439insVal
NM_001370404.1:c.4183_4184insTCG	NP_001357333.1:p.Arg1394_Gly1395insVal
NM_001370405.1:c.4186_4187insTCG	NP_001357334.1:p.Arg1395_Gly1396insVal
NM_001077183.3:c.4114_4115insTCG	NP_001070651.1:p.Arg1371_Gly1372insVal
NM_001114382.3:c.4246_4247insTCG	NP_001107854.1:p.Arg1415_Gly1416insVal
NM_001318827.2:c.4006_4007insTCG	NP_001305756.1:p.Arg1335_Gly1336insVal
NM_001318829.2:c.3970_3971insTCG	NP_001305758.1:p.Arg1323_Gly1324insVal
NM_001318831.2:c.3583_3584insTCG	NP_001305760.1:p.Arg1194_Gly1195insVal
NM_001318832.2:c.4147_4148insTCG	NP_001305761.1:p.Arg1382_Gly1383insVal
NM_001363528.2:c.4117_4118insTCG	NP_001350457.1:p.Arg1372_Gly1373insVal
NM_021055.3:c.4186_4187insTCG	NP_066399.2:p.Arg1395_Gly1396insVal