Canonical Allele Identifier: CA2573151610

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1451537
• ClinVar RCV Id: RCV002035328
• dbSNP Id: rs2151523516

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084336_2084345dup , CM000678.2:g.2084336_2084345dup	GRCh38
NC_000016.9:g.2134337_2134346dup , CM000678.1:g.2134337_2134346dup	GRCh37
NC_000016.8:g.2074338_2074347dup	NCBI36
NG_005895.1:g.40031_40040dup , LRG_487:g.40031_40040dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2463_*2472dup	ENSP00000455997.2:n.*2463_*2472dup
ENST00000642206.2:c.3961_3970dup	ENSP00000495146.2:p.Ser1324CysfsTer?
ENST00000642365.2:c.4111_4120dup	ENSP00000495459.2:p.Ser1374CysfsTer?
ENST00000644417.2:c.*4494_*4503dup	ENSP00000493912.2:n.*4494_*4503dup
ENST00000646464.2:c.*6863_*6872dup	ENSP00000496610.2:n.*6863_*6872dup
ENST00000219476.9:c.4114_4123dup MANE Select	ENSP00000219476.3:p.Ser1375CysfsTer?
ENST00000350773.9:c.4045_4054dup	ENSP00000344383.4:p.Ser1352CysfsTer?
ENST00000401874.7:c.3913_3922dup	ENSP00000384468.2:p.Ser1308CysfsTer?
ENST00000568454.6:c.3946_3955dup	ENSP00000454487.1:p.Ser1319CysfsTer?
ENST00000569110.2:c.350_359dup
ENST00000569930.2:n.1996_2005dup
ENST00000642365.1:c.2768_2777dup
ENST00000642561.1:c.3985_3994dup	ENSP00000495099.1:p.Ser1332CysfsTer?
ENST00000642728.1:n.296_305dup
ENST00000642797.1:c.3916_3925dup	ENSP00000493846.1:p.Ser1309CysfsTer?
ENST00000642936.1:c.3982_3991dup	ENSP00000494514.1:p.Ser1331CysfsTer?
ENST00000643088.1:c.3913_3922dup	ENSP00000494747.1:p.Ser1308CysfsTer?
ENST00000643177.1:n.128_137dup
ENST00000643426.1:n.1762_1771dup
ENST00000643946.1:c.4045_4054dup	ENSP00000495927.1:p.Ser1352CysfsTer?
ENST00000644043.1:c.3985_3994dup	ENSP00000496262.1:p.Ser1332CysfsTer?
ENST00000644329.1:c.3913_3922dup	ENSP00000496611.1:p.Ser1308CysfsTer?
ENST00000644335.1:c.3916_3925dup	ENSP00000496317.1:p.Ser1309CysfsTer?
ENST00000644399.1:c.4035_4044dup
ENST00000645024.1:n.2198_2207dup
ENST00000645186.1:c.357_366dup
ENST00000646388.1:c.4114_4123dup	ENSP00000495921.1:p.Ser1375CysfsTer?
ENST00000646634.1:n.2929_2938dup
ENST00000646674.1:n.1366_1375dup
ENST00000647042.1:n.1337_1346dup
ENST00000647180.1:n.1227_1236dup
ENST00000219476.7:c.4114_4123dup	ENSP00000219476.3:p.Ser1375CysfsTer?
ENST00000350773.8:c.4045_4054dup	ENSP00000344383.4:p.Ser1352CysfsTer?
ENST00000382538.10:c.3769_3778dup	ENSP00000371978.6:p.Ser1260CysfsTer?
ENST00000401874.6:c.3913_3922dup	ENSP00000384468.2:p.Ser1308CysfsTer?
ENST00000439117.6:c.*3281_*3290dup	ENSP00000406980.2:n.*3281_*3290dup
ENST00000439673.6:c.3805_3814dup	ENSP00000399232.2:p.Ser1272CysfsTer?
ENST00000497886.5:n.1872_1881dup
ENST00000568454.5:c.3946_3955dup	ENSP00000454487.1:p.Ser1319CysfsTer?
ENST00000569110.1:c.296_305dup
ENST00000569930.1:n.1229_1238dup
NM_000548.3:c.4114_4123dup , LRG_487t1:c.4114_4123dup	NP_000539.2:p.Ser1375CysfsTer?
NM_001077183.1:c.3913_3922dup	NP_001070651.1:p.Ser1308CysfsTer?
NM_001114382.1:c.4045_4054dup	NP_001107854.1:p.Ser1352CysfsTer?
XM_005255529.3:c.3985_3994dup	XP_005255586.2:p.Ser1332CysfsTer?
XM_005255531.3:c.3916_3925dup	XP_005255588.2:p.Ser1309CysfsTer?
XM_011522636.1:c.4168_4177dup	XP_011520938.1:p.Ser1393CysfsTer?
XM_011522637.1:c.4165_4174dup	XP_011520939.1:p.Ser1392CysfsTer?
XM_011522638.1:c.4057_4066dup	XP_011520940.1:p.Ser1356CysfsTer?
XM_011522639.1:c.4039_4048dup	XP_011520941.1:p.Ser1350CysfsTer?
XM_011522640.1:c.4036_4045dup	XP_011520942.1:p.Ser1349CysfsTer?
XM_011522641.1:c.3805_3814dup	XP_011520943.1:p.Ser1272CysfsTer?
NM_000548.4:c.4114_4123dup	NP_000539.2:p.Ser1375CysfsTer?
NM_001077183.2:c.3913_3922dup	NP_001070651.1:p.Ser1308CysfsTer?
NM_001114382.2:c.4045_4054dup	NP_001107854.1:p.Ser1352CysfsTer?
NM_001318827.1:c.3805_3814dup	NP_001305756.1:p.Ser1272CysfsTer?
NM_001318829.1:c.3769_3778dup	NP_001305758.1:p.Ser1260CysfsTer?
NM_001318831.1:c.3382_3391dup	NP_001305760.1:p.Ser1131CysfsTer?
NM_001318832.1:c.3946_3955dup	NP_001305761.1:p.Ser1319CysfsTer?
NM_001363528.1:c.3916_3925dup	NP_001350457.1:p.Ser1309CysfsTer?
NM_021055.2:c.3985_3994dup	NP_066399.2:p.Ser1332CysfsTer?
XM_005255531.4:c.3916_3925dup	XP_005255588.2:p.Ser1309CysfsTer?
XM_011522636.2:c.4168_4177dup	XP_011520938.1:p.Ser1393CysfsTer?
XM_011522637.2:c.4165_4174dup	XP_011520939.1:p.Ser1392CysfsTer?
XM_011522638.2:c.4330_4339dup	XP_011520940.2:p.Ser1447CysfsTer?
XM_011522639.2:c.4039_4048dup	XP_011520941.1:p.Ser1350CysfsTer?
XM_011522640.2:c.4036_4045dup	XP_011520942.1:p.Ser1349CysfsTer?
XM_017023615.1:c.4111_4120dup	XP_016879104.1:p.Ser1374CysfsTer?
XM_017023616.1:c.3982_3991dup	XP_016879105.1:p.Ser1331CysfsTer?
XM_017023617.1:c.4078_4087dup	XP_016879106.1:p.Ser1363CysfsTer?
XM_017023618.1:c.2824_2833dup	XP_016879107.1:p.Ser945CysfsTer?
XM_024450413.1:c.3913_3922dup	XP_024306181.1:p.Ser1308CysfsTer?
NM_000548.5:c.4114_4123dup MANE Select	NP_000539.2:p.Ser1375CysfsTer?
NM_001370404.1:c.3982_3991dup	NP_001357333.1:p.Ser1331CysfsTer?
NM_001370405.1:c.3985_3994dup	NP_001357334.1:p.Ser1332CysfsTer?
NM_001077183.3:c.3913_3922dup	NP_001070651.1:p.Ser1308CysfsTer?
NM_001114382.3:c.4045_4054dup	NP_001107854.1:p.Ser1352CysfsTer?
NM_001318827.2:c.3805_3814dup	NP_001305756.1:p.Ser1272CysfsTer?
NM_001318829.2:c.3769_3778dup	NP_001305758.1:p.Ser1260CysfsTer?
NM_001318831.2:c.3382_3391dup	NP_001305760.1:p.Ser1131CysfsTer?
NM_001318832.2:c.3946_3955dup	NP_001305761.1:p.Ser1319CysfsTer?
NM_001363528.2:c.3916_3925dup	NP_001350457.1:p.Ser1309CysfsTer?
NM_021055.3:c.3985_3994dup	NP_066399.2:p.Ser1332CysfsTer?