Canonical Allele Identifier: CA2580091044

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1697982
• ClinVar RCV Id: RCV002269405
• dbSNP Id: rs2151553737

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085315_2085316delinsGC , CM000678.2:g.2085315_2085316delinsGC	GRCh38
NC_000016.9:g.2135316_2135317delinsGC , CM000678.1:g.2135316_2135317delinsGC	GRCh37
NC_000016.8:g.2075317_2075318delinsGC	NCBI36
NG_005895.1:g.41010_41011delinsGC , LRG_487:g.41010_41011delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3004_*3005delinsGC	ENSP00000455997.2:n.*3004_*3005delinsGC
ENST00000642206.2:c.4502_4503delinsGC	ENSP00000495146.2:p.Glu1501Gly
ENST00000642365.2:c.4652_4653delinsGC	ENSP00000495459.2:p.Glu1551Gly
ENST00000644417.2:c.*5035_*5036delinsGC	ENSP00000493912.2:n.*5035_*5036delinsGC
ENST00000646464.2:c.*7404_*7405delinsGC	ENSP00000496610.2:n.*7404_*7405delinsGC
ENST00000219476.9:c.4655_4656delinsGC MANE Select	ENSP00000219476.3:p.Glu1552Gly
ENST00000350773.9:c.4586_4587delinsGC	ENSP00000344383.4:p.Glu1529Gly
ENST00000401874.7:c.4454_4455delinsGC	ENSP00000384468.2:p.Glu1485Gly
ENST00000568454.6:c.4487_4488delinsGC	ENSP00000454487.1:p.Glu1496Gly
ENST00000569110.2:c.878_879delinsGC
ENST00000569930.2:n.2537_2538delinsGC
ENST00000642365.1:c.3309_3310delinsGC
ENST00000642561.1:c.4526_4527delinsGC	ENSP00000495099.1:p.Glu1509Gly
ENST00000642728.1:n.837_838delinsGC
ENST00000642791.1:n.252_253delinsGC
ENST00000642797.1:c.4457_4458delinsGC	ENSP00000493846.1:p.Glu1486Gly
ENST00000642936.1:c.4523_4524delinsGC	ENSP00000494514.1:p.Glu1508Gly
ENST00000643088.1:c.4448_4449delinsGC	ENSP00000494747.1:p.Glu1483Gly
ENST00000643177.1:n.669_670delinsGC
ENST00000643426.1:n.2303_2304delinsGC
ENST00000643946.1:c.4580_4581delinsGC	ENSP00000495927.1:p.Glu1527Gly
ENST00000644043.1:c.4526_4527delinsGC	ENSP00000496262.1:p.Glu1509Gly
ENST00000644278.1:n.137_138delinsGC
ENST00000644329.1:c.4454_4455delinsGC	ENSP00000496611.1:p.Glu1485Gly
ENST00000644335.1:c.4451_4452delinsGC	ENSP00000496317.1:p.Glu1484Gly
ENST00000644399.1:c.4576_4577delinsGC
ENST00000645024.1:n.2739_2740delinsGC
ENST00000646388.1:c.4649_4650delinsGC	ENSP00000495921.1:p.Glu1550Gly
ENST00000646634.1:n.3470_3471delinsGC
ENST00000646674.1:n.1907_1908delinsGC
ENST00000647042.1:n.1878_1879delinsGC
ENST00000647180.1:n.1768_1769delinsGC
ENST00000219476.7:c.4655_4656delinsGC	ENSP00000219476.3:p.Glu1552Gly
ENST00000350773.8:c.4586_4587delinsGC	ENSP00000344383.4:p.Glu1529Gly
ENST00000382538.10:c.4310_4311delinsGC	ENSP00000371978.6:p.Glu1437Gly
ENST00000401874.6:c.4454_4455delinsGC	ENSP00000384468.2:p.Glu1485Gly
ENST00000439117.6:c.*3822_*3823delinsGC	ENSP00000406980.2:n.*3822_*3823delinsGC
ENST00000439673.6:c.4346_4347delinsGC	ENSP00000399232.2:p.Glu1449Gly
ENST00000497886.5:n.2413_2414delinsGC
ENST00000568454.5:c.4487_4488delinsGC	ENSP00000454487.1:p.Glu1496Gly
ENST00000569110.1:c.837_838delinsGC
ENST00000569930.1:n.1770_1771delinsGC
NM_000548.3:c.4655_4656delinsGC , LRG_487t1:c.4655_4656delinsGC	NP_000539.2:p.Glu1552Gly
NM_001077183.1:c.4454_4455delinsGC	NP_001070651.1:p.Glu1485Gly
NM_001114382.1:c.4586_4587delinsGC	NP_001107854.1:p.Glu1529Gly
XM_005255529.3:c.4526_4527delinsGC	XP_005255586.2:p.Glu1509Gly
XM_005255531.3:c.4457_4458delinsGC	XP_005255588.2:p.Glu1486Gly
XM_011522636.1:c.4709_4710delinsGC	XP_011520938.1:p.Glu1570Gly
XM_011522637.1:c.4706_4707delinsGC	XP_011520939.1:p.Glu1569Gly
XM_011522638.1:c.4598_4599delinsGC	XP_011520940.1:p.Glu1533Gly
XM_011522639.1:c.4580_4581delinsGC	XP_011520941.1:p.Glu1527Gly
XM_011522640.1:c.4577_4578delinsGC	XP_011520942.1:p.Glu1526Gly
XM_011522641.1:c.4346_4347delinsGC	XP_011520943.1:p.Glu1449Gly
NM_000548.4:c.4655_4656delinsGC	NP_000539.2:p.Glu1552Gly
NM_001077183.2:c.4454_4455delinsGC	NP_001070651.1:p.Glu1485Gly
NM_001114382.2:c.4586_4587delinsGC	NP_001107854.1:p.Glu1529Gly
NM_001318827.1:c.4346_4347delinsGC	NP_001305756.1:p.Glu1449Gly
NM_001318829.1:c.4310_4311delinsGC	NP_001305758.1:p.Glu1437Gly
NM_001318831.1:c.3923_3924delinsGC	NP_001305760.1:p.Glu1308Gly
NM_001318832.1:c.4487_4488delinsGC	NP_001305761.1:p.Glu1496Gly
NM_001363528.1:c.4457_4458delinsGC	NP_001350457.1:p.Glu1486Gly
NM_021055.2:c.4526_4527delinsGC	NP_066399.2:p.Glu1509Gly
XM_005255531.4:c.4457_4458delinsGC	XP_005255588.2:p.Glu1486Gly
XM_011522636.2:c.4709_4710delinsGC	XP_011520938.1:p.Glu1570Gly
XM_011522637.2:c.4706_4707delinsGC	XP_011520939.1:p.Glu1569Gly
XM_011522638.2:c.4871_4872delinsGC	XP_011520940.2:p.Glu1624Gly
XM_011522639.2:c.4580_4581delinsGC	XP_011520941.1:p.Glu1527Gly
XM_011522640.2:c.4577_4578delinsGC	XP_011520942.1:p.Glu1526Gly
XM_017023615.1:c.4652_4653delinsGC	XP_016879104.1:p.Glu1551Gly
XM_017023616.1:c.4523_4524delinsGC	XP_016879105.1:p.Glu1508Gly
XM_017023617.1:c.4619_4620delinsGC	XP_016879106.1:p.Glu1540Gly
XM_017023618.1:c.3365_3366delinsGC	XP_016879107.1:p.Glu1122Gly
XM_024450413.1:c.4454_4455delinsGC	XP_024306181.1:p.Glu1485Gly
NM_000548.5:c.4655_4656delinsGC MANE Select	NP_000539.2:p.Glu1552Gly
NM_001370404.1:c.4523_4524delinsGC	NP_001357333.1:p.Glu1508Gly
NM_001370405.1:c.4526_4527delinsGC	NP_001357334.1:p.Glu1509Gly
NM_001077183.3:c.4454_4455delinsGC	NP_001070651.1:p.Glu1485Gly
NM_001114382.3:c.4586_4587delinsGC	NP_001107854.1:p.Glu1529Gly
NM_001318827.2:c.4346_4347delinsGC	NP_001305756.1:p.Glu1449Gly
NM_001318829.2:c.4310_4311delinsGC	NP_001305758.1:p.Glu1437Gly
NM_001318831.2:c.3923_3924delinsGC	NP_001305760.1:p.Glu1308Gly
NM_001318832.2:c.4487_4488delinsGC	NP_001305761.1:p.Glu1496Gly
NM_001363528.2:c.4457_4458delinsGC	NP_001350457.1:p.Glu1486Gly
NM_021055.3:c.4526_4527delinsGC	NP_066399.2:p.Glu1509Gly