Canonical Allele Identifier: CA2805579770

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081943_2081944dup , CM000678.2:g.2081943_2081944dup	GRCh38
NC_000016.9:g.2131944_2131945dup , CM000678.1:g.2131944_2131945dup	GRCh37
NC_000016.8:g.2071945_2071946dup	NCBI36
NG_005895.1:g.37638_37639dup , LRG_487:g.37638_37639dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2232+145_*2232+146dup	ENSP00000455997.2:n.*2232+145_*2232+146dup
ENST00000642206.2:c.3730+145_3730+146dup	ENSP00000495146.2:n.3730+145_3730+146dup
ENST00000642365.2:c.3811+145_3811+146dup	ENSP00000495459.2:n.3811+145_3811+146dup
ENST00000644417.2:c.*4263+145_*4263+146dup	ENSP00000493912.2:n.*4263+145_*4263+146dup
ENST00000646464.2:c.*4881_*4882dup	ENSP00000496610.2:n.*4881_*4882dup
ENST00000219476.9:c.3814+145_3814+146dup MANE Select	ENSP00000219476.3:n.3814+145_3814+146dup
ENST00000350773.9:c.3814+145_3814+146dup	ENSP00000344383.4:n.3814+145_3814+146dup
ENST00000401874.7:c.3682+145_3682+146dup	ENSP00000384468.2:n.3682+145_3682+146dup
ENST00000568454.6:c.3715+145_3715+146dup	ENSP00000454487.1:n.3715+145_3715+146dup
ENST00000569930.2:n.14_15dup
ENST00000642365.1:c.2468+145_2468+146dup
ENST00000642561.1:c.3685+145_3685+146dup	ENSP00000495099.1:n.3685+145_3685+146dup
ENST00000642797.1:c.3685+145_3685+146dup	ENSP00000493846.1:n.3685+145_3685+146dup
ENST00000642936.1:c.3682+145_3682+146dup	ENSP00000494514.1:n.3682+145_3682+146dup
ENST00000643088.1:c.3682+145_3682+146dup	ENSP00000494747.1:n.3682+145_3682+146dup
ENST00000643426.1:n.1462+145_1462+146dup
ENST00000643533.1:n.324+145_324+146dup
ENST00000643946.1:c.3814+145_3814+146dup	ENSP00000495927.1:n.3814+145_3814+146dup
ENST00000644043.1:c.3685+145_3685+146dup	ENSP00000496262.1:n.3685+145_3685+146dup
ENST00000644329.1:c.3682+145_3682+146dup	ENSP00000496611.1:n.3682+145_3682+146dup
ENST00000644335.1:c.3685+145_3685+146dup	ENSP00000496317.1:n.3685+145_3685+146dup
ENST00000644399.1:c.3804+145_3804+146dup
ENST00000644722.1:n.960+145_960+146dup
ENST00000645024.1:n.1967+145_1967+146dup
ENST00000646388.1:c.3814+145_3814+146dup	ENSP00000495921.1:n.3814+145_3814+146dup
ENST00000646634.1:n.2698+145_2698+146dup
ENST00000646674.1:n.574_575dup
ENST00000647042.1:n.1106+145_1106+146dup
ENST00000647180.1:n.439_440dup
ENST00000219476.7:c.3814+145_3814+146dup	ENSP00000219476.3:n.3814+145_3814+146dup
ENST00000350773.8:c.3814+145_3814+146dup	ENSP00000344383.4:n.3814+145_3814+146dup
ENST00000382538.10:c.3538+145_3538+146dup	ENSP00000371978.6:n.3538+145_3538+146dup
ENST00000401874.6:c.3682+145_3682+146dup	ENSP00000384468.2:n.3682+145_3682+146dup
ENST00000439117.6:c.*2981+145_*2981+146dup	ENSP00000406980.2:n.*2981+145_*2981+146dup
ENST00000439673.6:c.3574+145_3574+146dup	ENSP00000399232.2:n.3574+145_3574+146dup
ENST00000497886.5:n.1641+145_1641+146dup
ENST00000568454.5:c.3715+145_3715+146dup	ENSP00000454487.1:n.3715+145_3715+146dup
NM_000548.3:c.3814+145_3814+146dup , LRG_487t1:c.3814+145_3814+146dup	NP_000539.2:n.3814+145_3814+146dup
NM_001077183.1:c.3682+145_3682+146dup	NP_001070651.1:n.3682+145_3682+146dup
NM_001114382.1:c.3814+145_3814+146dup	NP_001107854.1:n.3814+145_3814+146dup
XM_005255529.3:c.3685+145_3685+146dup	XP_005255586.2:n.3685+145_3685+146dup
XM_005255531.3:c.3685+145_3685+146dup	XP_005255588.2:n.3685+145_3685+146dup
XM_011522636.1:c.3814+145_3814+146dup	XP_011520938.1:n.3814+145_3814+146dup
XM_011522637.1:c.3811+145_3811+146dup	XP_011520939.1:n.3811+145_3811+146dup
XM_011522638.1:c.3703+145_3703+146dup	XP_011520940.1:n.3703+145_3703+146dup
XM_011522639.1:c.3685+145_3685+146dup	XP_011520941.1:n.3685+145_3685+146dup
XM_011522640.1:c.3682+145_3682+146dup	XP_011520942.1:n.3682+145_3682+146dup
XM_011522641.1:c.3574+145_3574+146dup	XP_011520943.1:n.3574+145_3574+146dup
NM_000548.4:c.3814+145_3814+146dup	NP_000539.2:n.3814+145_3814+146dup
NM_001077183.2:c.3682+145_3682+146dup	NP_001070651.1:n.3682+145_3682+146dup
NM_001114382.2:c.3814+145_3814+146dup	NP_001107854.1:n.3814+145_3814+146dup
NM_001318827.1:c.3574+145_3574+146dup	NP_001305756.1:n.3574+145_3574+146dup
NM_001318829.1:c.3538+145_3538+146dup	NP_001305758.1:n.3538+145_3538+146dup
NM_001318831.1:c.3082+145_3082+146dup	NP_001305760.1:n.3082+145_3082+146dup
NM_001318832.1:c.3715+145_3715+146dup	NP_001305761.1:n.3715+145_3715+146dup
NM_001363528.1:c.3685+145_3685+146dup	NP_001350457.1:n.3685+145_3685+146dup
NM_021055.2:c.3685+145_3685+146dup	NP_066399.2:n.3685+145_3685+146dup
XM_005255531.4:c.3685+145_3685+146dup	XP_005255588.2:n.3685+145_3685+146dup
XM_011522636.2:c.3814+145_3814+146dup	XP_011520938.1:n.3814+145_3814+146dup
XM_011522637.2:c.3811+145_3811+146dup	XP_011520939.1:n.3811+145_3811+146dup
XM_011522638.2:c.3976+145_3976+146dup	XP_011520940.2:n.3976+145_3976+146dup
XM_011522639.2:c.3685+145_3685+146dup	XP_011520941.1:n.3685+145_3685+146dup
XM_011522640.2:c.3682+145_3682+146dup	XP_011520942.1:n.3682+145_3682+146dup
XM_017023615.1:c.3811+145_3811+146dup	XP_016879104.1:n.3811+145_3811+146dup
XM_017023616.1:c.3682+145_3682+146dup	XP_016879105.1:n.3682+145_3682+146dup
XM_017023617.1:c.3847+145_3847+146dup	XP_016879106.1:n.3847+145_3847+146dup
XM_017023618.1:c.2470+145_2470+146dup	XP_016879107.1:n.2470+145_2470+146dup
XM_024450413.1:c.3682+145_3682+146dup	XP_024306181.1:n.3682+145_3682+146dup
NM_000548.5:c.3814+145_3814+146dup MANE Select	NP_000539.2:n.3814+145_3814+146dup
NM_001370404.1:c.3682+145_3682+146dup	NP_001357333.1:n.3682+145_3682+146dup
NM_001370405.1:c.3685+145_3685+146dup	NP_001357334.1:n.3685+145_3685+146dup
NM_001077183.3:c.3682+145_3682+146dup	NP_001070651.1:n.3682+145_3682+146dup
NM_001114382.3:c.3814+145_3814+146dup	NP_001107854.1:n.3814+145_3814+146dup
NM_001318827.2:c.3574+145_3574+146dup	NP_001305756.1:n.3574+145_3574+146dup
NM_001318829.2:c.3538+145_3538+146dup	NP_001305758.1:n.3538+145_3538+146dup
NM_001318831.2:c.3082+145_3082+146dup	NP_001305760.1:n.3082+145_3082+146dup
NM_001318832.2:c.3715+145_3715+146dup	NP_001305761.1:n.3715+145_3715+146dup
NM_001363528.2:c.3685+145_3685+146dup	NP_001350457.1:n.3685+145_3685+146dup
NM_021055.3:c.3685+145_3685+146dup	NP_066399.2:n.3685+145_3685+146dup