Canonical Allele Identifier: CA2573151623

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1366314
• ClinVar RCV Id: RCV001944620
• dbSNP Id: rs2151527185

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084427_2084459del , CM000678.2:g.2084427_2084459del	GRCh38
NC_000016.9:g.2134428_2134460del , CM000678.1:g.2134428_2134460del	GRCh37
NC_000016.8:g.2074429_2074461del	NCBI36
NG_005895.1:g.40122_40154del , LRG_487:g.40122_40154del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2554_*2586del	ENSP00000455997.2:n.*2554_*2586del
ENST00000642206.2:c.4052_4084del	ENSP00000495146.2:p.Gly1351_Pro1361del
ENST00000642365.2:c.4202_4234del	ENSP00000495459.2:p.Gly1401_Pro1411del
ENST00000644417.2:c.*4585_*4617del	ENSP00000493912.2:n.*4585_*4617del
ENST00000646464.2:c.*6954_*6986del	ENSP00000496610.2:n.*6954_*6986del
ENST00000219476.9:c.4205_4237del MANE Select	ENSP00000219476.3:p.Gly1402_Pro1412del
ENST00000350773.9:c.4136_4168del	ENSP00000344383.4:p.Gly1379_Pro1389del
ENST00000401874.7:c.4004_4036del	ENSP00000384468.2:p.Gly1335_Pro1345del
ENST00000568454.6:c.4037_4069del	ENSP00000454487.1:p.Gly1346_Pro1356del
ENST00000569110.2:c.441_473del
ENST00000569930.2:n.2087_2119del
ENST00000642365.1:c.2859_2891del
ENST00000642561.1:c.4076_4108del	ENSP00000495099.1:p.Gly1359_Pro1369del
ENST00000642728.1:n.387_419del
ENST00000642797.1:c.4007_4039del	ENSP00000493846.1:p.Gly1336_Pro1346del
ENST00000642936.1:c.4073_4105del	ENSP00000494514.1:p.Gly1358_Pro1368del
ENST00000643088.1:c.4004_4036del	ENSP00000494747.1:p.Gly1335_Pro1345del
ENST00000643177.1:n.219_251del
ENST00000643426.1:n.1853_1885del
ENST00000643946.1:c.4136_4168del	ENSP00000495927.1:p.Gly1379_Pro1389del
ENST00000644043.1:c.4076_4108del	ENSP00000496262.1:p.Gly1359_Pro1369del
ENST00000644329.1:c.4004_4036del	ENSP00000496611.1:p.Gly1335_Pro1345del
ENST00000644335.1:c.4007_4039del	ENSP00000496317.1:p.Gly1336_Pro1346del
ENST00000644399.1:c.4126_4158del
ENST00000645024.1:n.2289_2321del
ENST00000645186.1:c.448_480del
ENST00000646388.1:c.4205_4237del	ENSP00000495921.1:p.Gly1402_Pro1412del
ENST00000646634.1:n.3020_3052del
ENST00000646674.1:n.1457_1489del
ENST00000647042.1:n.1428_1460del
ENST00000647180.1:n.1318_1350del
ENST00000219476.7:c.4205_4237del	ENSP00000219476.3:p.Gly1402_Pro1412del
ENST00000350773.8:c.4136_4168del	ENSP00000344383.4:p.Gly1379_Pro1389del
ENST00000382538.10:c.3860_3892del	ENSP00000371978.6:p.Gly1287_Pro1297del
ENST00000401874.6:c.4004_4036del	ENSP00000384468.2:p.Gly1335_Pro1345del
ENST00000439117.6:c.*3372_*3404del	ENSP00000406980.2:n.*3372_*3404del
ENST00000439673.6:c.3896_3928del	ENSP00000399232.2:p.Gly1299_Pro1309del
ENST00000497886.5:n.1963_1995del
ENST00000568454.5:c.4037_4069del	ENSP00000454487.1:p.Gly1346_Pro1356del
ENST00000569110.1:c.387_419del
ENST00000569930.1:n.1320_1352del
NM_000548.3:c.4205_4237del , LRG_487t1:c.4205_4237del	NP_000539.2:p.Gly1402_Pro1412del
NM_001077183.1:c.4004_4036del	NP_001070651.1:p.Gly1335_Pro1345del
NM_001114382.1:c.4136_4168del	NP_001107854.1:p.Gly1379_Pro1389del
XM_005255529.3:c.4076_4108del	XP_005255586.2:p.Gly1359_Pro1369del
XM_005255531.3:c.4007_4039del	XP_005255588.2:p.Gly1336_Pro1346del
XM_011522636.1:c.4259_4291del	XP_011520938.1:p.Gly1420_Pro1430del
XM_011522637.1:c.4256_4288del	XP_011520939.1:p.Gly1419_Pro1429del
XM_011522638.1:c.4148_4180del	XP_011520940.1:p.Gly1383_Pro1393del
XM_011522639.1:c.4130_4162del	XP_011520941.1:p.Gly1377_Pro1387del
XM_011522640.1:c.4127_4159del	XP_011520942.1:p.Gly1376_Pro1386del
XM_011522641.1:c.3896_3928del	XP_011520943.1:p.Gly1299_Pro1309del
NM_000548.4:c.4205_4237del	NP_000539.2:p.Gly1402_Pro1412del
NM_001077183.2:c.4004_4036del	NP_001070651.1:p.Gly1335_Pro1345del
NM_001114382.2:c.4136_4168del	NP_001107854.1:p.Gly1379_Pro1389del
NM_001318827.1:c.3896_3928del	NP_001305756.1:p.Gly1299_Pro1309del
NM_001318829.1:c.3860_3892del	NP_001305758.1:p.Gly1287_Pro1297del
NM_001318831.1:c.3473_3505del	NP_001305760.1:p.Gly1158_Pro1168del
NM_001318832.1:c.4037_4069del	NP_001305761.1:p.Gly1346_Pro1356del
NM_001363528.1:c.4007_4039del	NP_001350457.1:p.Gly1336_Pro1346del
NM_021055.2:c.4076_4108del	NP_066399.2:p.Gly1359_Pro1369del
XM_005255531.4:c.4007_4039del	XP_005255588.2:p.Gly1336_Pro1346del
XM_011522636.2:c.4259_4291del	XP_011520938.1:p.Gly1420_Pro1430del
XM_011522637.2:c.4256_4288del	XP_011520939.1:p.Gly1419_Pro1429del
XM_011522638.2:c.4421_4453del	XP_011520940.2:p.Gly1474_Pro1484del
XM_011522639.2:c.4130_4162del	XP_011520941.1:p.Gly1377_Pro1387del
XM_011522640.2:c.4127_4159del	XP_011520942.1:p.Gly1376_Pro1386del
XM_017023615.1:c.4202_4234del	XP_016879104.1:p.Gly1401_Pro1411del
XM_017023616.1:c.4073_4105del	XP_016879105.1:p.Gly1358_Pro1368del
XM_017023617.1:c.4169_4201del	XP_016879106.1:p.Gly1390_Pro1400del
XM_017023618.1:c.2915_2947del	XP_016879107.1:p.Gly972_Pro982del
XM_024450413.1:c.4004_4036del	XP_024306181.1:p.Gly1335_Pro1345del
NM_000548.5:c.4205_4237del MANE Select	NP_000539.2:p.Gly1402_Pro1412del
NM_001370404.1:c.4073_4105del	NP_001357333.1:p.Gly1358_Pro1368del
NM_001370405.1:c.4076_4108del	NP_001357334.1:p.Gly1359_Pro1369del
NM_001077183.3:c.4004_4036del	NP_001070651.1:p.Gly1335_Pro1345del
NM_001114382.3:c.4136_4168del	NP_001107854.1:p.Gly1379_Pro1389del
NM_001318827.2:c.3896_3928del	NP_001305756.1:p.Gly1299_Pro1309del
NM_001318829.2:c.3860_3892del	NP_001305758.1:p.Gly1287_Pro1297del
NM_001318831.2:c.3473_3505del	NP_001305760.1:p.Gly1158_Pro1168del
NM_001318832.2:c.4037_4069del	NP_001305761.1:p.Gly1346_Pro1356del
NM_001363528.2:c.4007_4039del	NP_001350457.1:p.Gly1336_Pro1346del
NM_021055.3:c.4076_4108del	NP_066399.2:p.Gly1359_Pro1369del