Canonical Allele Identifier: CA2201999777

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2055394_2055395delinsTC , CM000678.2:g.2055394_2055395delinsTC	GRCh38
NC_000016.9:g.2105395_2105396delinsTC , CM000678.1:g.2105395_2105396delinsTC	GRCh37
NC_000016.8:g.2045396_2045397delinsTC	NCBI36
NG_005895.1:g.11089_11090delinsTC , LRG_487:g.11089_11090delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.482-8_482-7delinsTC	ENSP00000455997.2:n.482-8_482-7delinsTC
ENST00000642206.2:c.527-8_527-7delinsTC	ENSP00000495146.2:n.527-8_527-7delinsTC
ENST00000642365.2:c.482-8_482-7delinsTC	ENSP00000495459.2:n.482-8_482-7delinsTC
ENST00000644417.2:c.482-25_482-24delinsTC	ENSP00000493912.2:n.482-25_482-24delinsTC
ENST00000646464.2:c.226-586_226-585delinsTC	ENSP00000496610.2:n.226-586_226-585delinsTC
ENST00000219476.9:c.482-8_482-7delinsTC MANE Select	ENSP00000219476.3:n.482-8_482-7delinsTC
ENST00000350773.9:c.482-8_482-7delinsTC	ENSP00000344383.4:n.482-8_482-7delinsTC
ENST00000401874.7:c.482-8_482-7delinsTC	ENSP00000384468.2:n.482-8_482-7delinsTC
ENST00000432909.3:c.256-8_256-7delinsTC
ENST00000461648.3:n.2388_2389delinsTC
ENST00000568454.6:c.515-8_515-7delinsTC	ENSP00000454487.1:n.515-8_515-7delinsTC
ENST00000568692.2:n.1205-8_1205-7delinsTC
ENST00000642561.1:c.482-8_482-7delinsTC	ENSP00000495099.1:n.482-8_482-7delinsTC
ENST00000642797.1:c.482-8_482-7delinsTC	ENSP00000493846.1:n.482-8_482-7delinsTC
ENST00000642812.1:n.539-8_539-7delinsTC
ENST00000642936.1:c.482-8_482-7delinsTC	ENSP00000494514.1:n.482-8_482-7delinsTC
ENST00000643088.1:c.482-8_482-7delinsTC	ENSP00000494747.1:n.482-8_482-7delinsTC
ENST00000643120.1:n.523-25_523-24delinsTC
ENST00000643149.1:n.1435-8_1435-7delinsTC
ENST00000643298.1:c.482-8_482-7delinsTC	ENSP00000494393.1:n.482-8_482-7delinsTC
ENST00000643745.1:c.482-8_482-7delinsTC	ENSP00000495948.1:n.482-8_482-7delinsTC
ENST00000643946.1:c.482-8_482-7delinsTC	ENSP00000495927.1:n.482-8_482-7delinsTC
ENST00000644043.1:c.482-8_482-7delinsTC	ENSP00000496262.1:n.482-8_482-7delinsTC
ENST00000644135.1:c.482-8_482-7delinsTC	ENSP00000495644.1:n.482-8_482-7delinsTC
ENST00000644222.1:n.569-8_569-7delinsTC
ENST00000644329.1:c.482-8_482-7delinsTC	ENSP00000496611.1:n.482-8_482-7delinsTC
ENST00000644335.1:c.482-8_482-7delinsTC	ENSP00000496317.1:n.482-8_482-7delinsTC
ENST00000644399.1:c.475-8_475-7delinsTC
ENST00000644417.1:c.197-25_197-24delinsTC	ENSP00000493912.1:n.197-25_197-24delinsTC
ENST00000644665.1:n.599-8_599-7delinsTC
ENST00000645591.1:n.1453-8_1453-7delinsTC
ENST00000646388.1:c.482-8_482-7delinsTC	ENSP00000495921.1:n.482-8_482-7delinsTC
ENST00000646823.1:n.870-8_870-7delinsTC
ENST00000647234.1:n.1200-25_1200-24delinsTC
ENST00000647242.1:n.1150-8_1150-7delinsTC
ENST00000219476.7:c.482-8_482-7delinsTC	ENSP00000219476.3:n.482-8_482-7delinsTC
ENST00000350773.8:c.482-8_482-7delinsTC	ENSP00000344383.4:n.482-8_482-7delinsTC
ENST00000382538.10:c.335-8_335-7delinsTC	ENSP00000371978.6:n.335-8_335-7delinsTC
ENST00000401874.6:c.482-8_482-7delinsTC	ENSP00000384468.2:n.482-8_482-7delinsTC
ENST00000432909.2:c.256-8_256-7delinsTC
ENST00000439117.6:c.226-802_226-801delinsTC	ENSP00000406980.2:n.226-802_226-801delinsTC
ENST00000439673.6:c.371-8_371-7delinsTC	ENSP00000399232.2:n.371-8_371-7delinsTC
ENST00000568454.5:c.515-8_515-7delinsTC	ENSP00000454487.1:n.515-8_515-7delinsTC
ENST00000568692.1:n.146-8_146-7delinsTC
NM_000548.3:c.482-8_482-7delinsTC , LRG_487t1:c.482-8_482-7delinsTC	NP_000539.2:n.482-8_482-7delinsTC
NM_001077183.1:c.482-8_482-7delinsTC	NP_001070651.1:n.482-8_482-7delinsTC
NM_001114382.1:c.482-8_482-7delinsTC	NP_001107854.1:n.482-8_482-7delinsTC
XM_005255529.3:c.482-8_482-7delinsTC	XP_005255586.2:n.482-8_482-7delinsTC
XM_005255531.3:c.482-8_482-7delinsTC	XP_005255588.2:n.482-8_482-7delinsTC
XM_011522636.1:c.482-8_482-7delinsTC	XP_011520938.1:n.482-8_482-7delinsTC
XM_011522637.1:c.482-8_482-7delinsTC	XP_011520939.1:n.482-8_482-7delinsTC
XM_011522638.1:c.371-8_371-7delinsTC	XP_011520940.1:n.371-8_371-7delinsTC
XM_011522639.1:c.482-8_482-7delinsTC	XP_011520941.1:n.482-8_482-7delinsTC
XM_011522640.1:c.482-8_482-7delinsTC	XP_011520942.1:n.482-8_482-7delinsTC
XM_011522641.1:c.371-8_371-7delinsTC	XP_011520943.1:n.371-8_371-7delinsTC
NM_000548.4:c.482-8_482-7delinsTC	NP_000539.2:n.482-8_482-7delinsTC
NM_001077183.2:c.482-8_482-7delinsTC	NP_001070651.1:n.482-8_482-7delinsTC
NM_001114382.2:c.482-8_482-7delinsTC	NP_001107854.1:n.482-8_482-7delinsTC
NM_001318827.1:c.371-8_371-7delinsTC	NP_001305756.1:n.371-8_371-7delinsTC
NM_001318829.1:c.335-8_335-7delinsTC	NP_001305758.1:n.335-8_335-7delinsTC
NM_001318831.1:c.-1-802_-1-801delinsTC	NP_001305760.1:n.-1-802_-1-801delinsTC
NM_001318832.1:c.515-8_515-7delinsTC	NP_001305761.1:n.515-8_515-7delinsTC
NM_001363528.1:c.482-8_482-7delinsTC	NP_001350457.1:n.482-8_482-7delinsTC
NM_021055.2:c.482-8_482-7delinsTC	NP_066399.2:n.482-8_482-7delinsTC
XM_005255531.4:c.482-8_482-7delinsTC	XP_005255588.2:n.482-8_482-7delinsTC
XM_011522636.2:c.482-8_482-7delinsTC	XP_011520938.1:n.482-8_482-7delinsTC
XM_011522637.2:c.482-8_482-7delinsTC	XP_011520939.1:n.482-8_482-7delinsTC
XM_011522638.2:c.644-8_644-7delinsTC	XP_011520940.2:n.644-8_644-7delinsTC
XM_011522639.2:c.482-8_482-7delinsTC	XP_011520941.1:n.482-8_482-7delinsTC
XM_011522640.2:c.482-8_482-7delinsTC	XP_011520942.1:n.482-8_482-7delinsTC
XM_017023615.1:c.482-8_482-7delinsTC	XP_016879104.1:n.482-8_482-7delinsTC
XM_017023616.1:c.482-8_482-7delinsTC	XP_016879105.1:n.482-8_482-7delinsTC
XM_017023617.1:c.644-8_644-7delinsTC	XP_016879106.1:n.644-8_644-7delinsTC
XM_017023618.1:c.-950-8_-950-7delinsTC	XP_016879107.1:n.-950-8_-950-7delinsTC
XM_024450413.1:c.482-8_482-7delinsTC	XP_024306181.1:n.482-8_482-7delinsTC
NM_000548.5:c.482-8_482-7delinsTC MANE Select	NP_000539.2:n.482-8_482-7delinsTC
NM_001370404.1:c.482-8_482-7delinsTC	NP_001357333.1:n.482-8_482-7delinsTC
NM_001370405.1:c.482-8_482-7delinsTC	NP_001357334.1:n.482-8_482-7delinsTC
NM_001077183.3:c.482-8_482-7delinsTC	NP_001070651.1:n.482-8_482-7delinsTC
NM_001114382.3:c.482-8_482-7delinsTC	NP_001107854.1:n.482-8_482-7delinsTC
NM_001318827.2:c.371-8_371-7delinsTC	NP_001305756.1:n.371-8_371-7delinsTC
NM_001318829.2:c.335-8_335-7delinsTC	NP_001305758.1:n.335-8_335-7delinsTC
NM_001318831.2:c.-1-802_-1-801delinsTC	NP_001305760.1:n.-1-802_-1-801delinsTC
NM_001318832.2:c.515-8_515-7delinsTC	NP_001305761.1:n.515-8_515-7delinsTC
NM_001363528.2:c.482-8_482-7delinsTC	NP_001350457.1:n.482-8_482-7delinsTC
NM_021055.3:c.482-8_482-7delinsTC	NP_066399.2:n.482-8_482-7delinsTC