Canonical Allele Identifier: CA2499223328

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1075958
• ClinVar RCV Id: RCV001389684
• dbSNP Id: rs2151480775

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081604dup , CM000678.2:g.2081604dup	GRCh38
NC_000016.9:g.2131605dup , CM000678.1:g.2131605dup	GRCh37
NC_000016.8:g.2071606dup	NCBI36
NG_005895.1:g.37299dup , LRG_487:g.37299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2038dup	ENSP00000455997.2:n.*2038dup
ENST00000642206.2:c.3536dup	ENSP00000495146.2:p.Ser1179ArgfsTer27
ENST00000642365.2:c.3617dup	ENSP00000495459.2:p.Ser1206ArgfsTer27
ENST00000644417.2:c.*4069dup	ENSP00000493912.2:n.*4069dup
ENST00000646464.2:c.*4542dup	ENSP00000496610.2:n.*4542dup
ENST00000219476.9:c.3620dup MANE Select	ENSP00000219476.3:p.Ser1207ArgfsTer27
ENST00000350773.9:c.3620dup	ENSP00000344383.4:p.Ser1207ArgfsTer27
ENST00000401874.7:c.3488dup	ENSP00000384468.2:p.Ser1163ArgfsTer27
ENST00000568454.6:c.3521dup	ENSP00000454487.1:p.Ser1174ArgfsTer27
ENST00000642365.1:c.2274dup
ENST00000642561.1:c.3491dup	ENSP00000495099.1:p.Ser1164ArgfsTer27
ENST00000642797.1:c.3491dup	ENSP00000493846.1:p.Ser1164ArgfsTer27
ENST00000642936.1:c.3488dup	ENSP00000494514.1:p.Ser1163ArgfsTer27
ENST00000643088.1:c.3488dup	ENSP00000494747.1:p.Ser1163ArgfsTer27
ENST00000643426.1:n.1268dup
ENST00000643533.1:n.130dup
ENST00000643946.1:c.3620dup	ENSP00000495927.1:p.Ser1207ArgfsTer27
ENST00000644043.1:c.3491dup	ENSP00000496262.1:p.Ser1164ArgfsTer27
ENST00000644329.1:c.3488dup	ENSP00000496611.1:p.Ser1163ArgfsTer27
ENST00000644335.1:c.3491dup	ENSP00000496317.1:p.Ser1164ArgfsTer27
ENST00000644399.1:c.3610dup
ENST00000644722.1:n.766dup
ENST00000645024.1:n.1773dup
ENST00000646388.1:c.3620dup	ENSP00000495921.1:p.Ser1207ArgfsTer27
ENST00000646634.1:n.2504dup
ENST00000646674.1:n.235dup
ENST00000647042.1:n.912dup
ENST00000647180.1:n.100dup
ENST00000219476.7:c.3620dup	ENSP00000219476.3:p.Ser1207ArgfsTer27
ENST00000350773.8:c.3620dup	ENSP00000344383.4:p.Ser1207ArgfsTer27
ENST00000382538.10:c.3344dup	ENSP00000371978.6:p.Ser1115ArgfsTer27
ENST00000401874.6:c.3488dup	ENSP00000384468.2:p.Ser1163ArgfsTer27
ENST00000439117.6:c.*2787dup	ENSP00000406980.2:n.*2787dup
ENST00000439673.6:c.3380dup	ENSP00000399232.2:p.Ser1127ArgfsTer27
ENST00000497886.5:n.1447dup
ENST00000568454.5:c.3521dup	ENSP00000454487.1:p.Ser1174ArgfsTer27
NM_000548.3:c.3620dup , LRG_487t1:c.3620dup	NP_000539.2:p.Ser1207ArgfsTer27
NM_001077183.1:c.3488dup	NP_001070651.1:p.Ser1163ArgfsTer27
NM_001114382.1:c.3620dup	NP_001107854.1:p.Ser1207ArgfsTer27
XM_005255529.3:c.3491dup	XP_005255586.2:p.Ser1164ArgfsTer27
XM_005255531.3:c.3491dup	XP_005255588.2:p.Ser1164ArgfsTer27
XM_011522636.1:c.3620dup	XP_011520938.1:p.Ser1207ArgfsTer27
XM_011522637.1:c.3617dup	XP_011520939.1:p.Ser1206ArgfsTer27
XM_011522638.1:c.3509dup	XP_011520940.1:p.Ser1170ArgfsTer27
XM_011522639.1:c.3491dup	XP_011520941.1:p.Ser1164ArgfsTer27
XM_011522640.1:c.3488dup	XP_011520942.1:p.Ser1163ArgfsTer27
XM_011522641.1:c.3380dup	XP_011520943.1:p.Ser1127ArgfsTer27
NM_000548.4:c.3620dup	NP_000539.2:p.Ser1207ArgfsTer27
NM_001077183.2:c.3488dup	NP_001070651.1:p.Ser1163ArgfsTer27
NM_001114382.2:c.3620dup	NP_001107854.1:p.Ser1207ArgfsTer27
NM_001318827.1:c.3380dup	NP_001305756.1:p.Ser1127ArgfsTer27
NM_001318829.1:c.3344dup	NP_001305758.1:p.Ser1115ArgfsTer27
NM_001318831.1:c.2888dup	NP_001305760.1:p.Ser963ArgfsTer27
NM_001318832.1:c.3521dup	NP_001305761.1:p.Ser1174ArgfsTer27
NM_001363528.1:c.3491dup	NP_001350457.1:p.Ser1164ArgfsTer27
NM_021055.2:c.3491dup	NP_066399.2:p.Ser1164ArgfsTer27
XM_005255531.4:c.3491dup	XP_005255588.2:p.Ser1164ArgfsTer27
XM_011522636.2:c.3620dup	XP_011520938.1:p.Ser1207ArgfsTer27
XM_011522637.2:c.3617dup	XP_011520939.1:p.Ser1206ArgfsTer27
XM_011522638.2:c.3782dup	XP_011520940.2:p.Ser1261ArgfsTer27
XM_011522639.2:c.3491dup	XP_011520941.1:p.Ser1164ArgfsTer27
XM_011522640.2:c.3488dup	XP_011520942.1:p.Ser1163ArgfsTer27
XM_017023615.1:c.3617dup	XP_016879104.1:p.Ser1206ArgfsTer27
XM_017023616.1:c.3488dup	XP_016879105.1:p.Ser1163ArgfsTer27
XM_017023617.1:c.3653dup	XP_016879106.1:p.Ser1218ArgfsTer27
XM_017023618.1:c.2276dup	XP_016879107.1:p.Ser759ArgfsTer27
XM_024450413.1:c.3488dup	XP_024306181.1:p.Ser1163ArgfsTer27
NM_000548.5:c.3620dup MANE Select	NP_000539.2:p.Ser1207ArgfsTer27
NM_001370404.1:c.3488dup	NP_001357333.1:p.Ser1163ArgfsTer27
NM_001370405.1:c.3491dup	NP_001357334.1:p.Ser1164ArgfsTer27
NM_001077183.3:c.3488dup	NP_001070651.1:p.Ser1163ArgfsTer27
NM_001114382.3:c.3620dup	NP_001107854.1:p.Ser1207ArgfsTer27
NM_001318827.2:c.3380dup	NP_001305756.1:p.Ser1127ArgfsTer27
NM_001318829.2:c.3344dup	NP_001305758.1:p.Ser1115ArgfsTer27
NM_001318831.2:c.2888dup	NP_001305760.1:p.Ser963ArgfsTer27
NM_001318832.2:c.3521dup	NP_001305761.1:p.Ser1174ArgfsTer27
NM_001363528.2:c.3491dup	NP_001350457.1:p.Ser1164ArgfsTer27
NM_021055.3:c.3491dup	NP_066399.2:p.Ser1164ArgfsTer27