Canonical Allele Identifier: CA2202018646

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085108_2085125delinsAGCTCAGGCTTGCAGAGG , CM000678.2:g.2085108_2085125delinsAGCTCAGGCTTGCAGAGG	GRCh38
NC_000016.9:g.2135109_2135126delinsAGCTCAGGCTTGCAGAGG , CM000678.1:g.2135109_2135126delinsAGCTCAGGCTTGCAGAGG	GRCh37
NC_000016.8:g.2075110_2075127delinsAGCTCAGGCTTGCAGAGG	NCBI36
NG_005895.1:g.40803_40820delinsAGCTCAGGCTTGCAGAGG , LRG_487:g.40803_40820delinsAGCTCAGGCTTGCAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2918+82_*2918+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000455997.2:n.*2918+82_*2918+99delinsAGCTCAGGCTTGCAGAGG...
ENST00000642206.2:c.4416+82_4416+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000495146.2:n.4416+82_4416+99delinsAGCTCAGGCTTGCAGAGG
ENST00000642365.2:c.4566+82_4566+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000495459.2:n.4566+82_4566+99delinsAGCTCAGGCTTGCAGAGG
ENST00000644417.2:c.*4949+82_*4949+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000493912.2:n.*4949+82_*4949+99delinsAGCTCAGGCTTGCAGAGG...
ENST00000646464.2:c.*7318+82_*7318+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000496610.2:n.*7318+82_*7318+99delinsAGCTCAGGCTTGCAGAGG...
ENST00000219476.9:c.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG MANE Select	ENSP00000219476.3:n.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG
ENST00000350773.9:c.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000344383.4:n.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG
ENST00000401874.7:c.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000384468.2:n.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG
ENST00000568454.6:c.4401+82_4401+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000454487.1:n.4401+82_4401+99delinsAGCTCAGGCTTGCAGAGG
ENST00000569110.2:c.792+82_792+99delinsAGCTCAGGCTTGCAGAGG
ENST00000569930.2:n.2451+82_2451+99delinsAGCTCAGGCTTGCAGAGG
ENST00000642365.1:c.3223+82_3223+99delinsAGCTCAGGCTTGCAGAGG
ENST00000642561.1:c.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000495099.1:n.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG
ENST00000642728.1:n.751+82_751+99delinsAGCTCAGGCTTGCAGAGG
ENST00000642791.1:n.45_62delinsAGCTCAGGCTTGCAGAGG
ENST00000642797.1:c.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000493846.1:n.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG
ENST00000642936.1:c.4437+82_4437+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000494514.1:n.4437+82_4437+99delinsAGCTCAGGCTTGCAGAGG
ENST00000643088.1:c.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000494747.1:n.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG
ENST00000643177.1:n.583+82_583+99delinsAGCTCAGGCTTGCAGAGG
ENST00000643426.1:n.2217+82_2217+99delinsAGCTCAGGCTTGCAGAGG
ENST00000643946.1:c.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000495927.1:n.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG
ENST00000644043.1:c.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000496262.1:n.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG
ENST00000644329.1:c.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000496611.1:n.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG
ENST00000644335.1:c.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000496317.1:n.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG
ENST00000644399.1:c.4490+82_4490+99delinsAGCTCAGGCTTGCAGAGG
ENST00000645024.1:n.2653+82_2653+99delinsAGCTCAGGCTTGCAGAGG
ENST00000646388.1:c.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000495921.1:n.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG
ENST00000646634.1:n.3384+82_3384+99delinsAGCTCAGGCTTGCAGAGG
ENST00000646674.1:n.1821+82_1821+99delinsAGCTCAGGCTTGCAGAGG
ENST00000647042.1:n.1792+82_1792+99delinsAGCTCAGGCTTGCAGAGG
ENST00000647180.1:n.1682+82_1682+99delinsAGCTCAGGCTTGCAGAGG
ENST00000219476.7:c.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000219476.3:n.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG
ENST00000350773.8:c.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000344383.4:n.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG
ENST00000382538.10:c.4224+82_4224+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000371978.6:n.4224+82_4224+99delinsAGCTCAGGCTTGCAGAGG
ENST00000401874.6:c.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000384468.2:n.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG
ENST00000439117.6:c.*3736+82_*3736+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000406980.2:n.*3736+82_*3736+99delinsAGCTCAGGCTTGCAGAGG...
ENST00000439673.6:c.4260+82_4260+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000399232.2:n.4260+82_4260+99delinsAGCTCAGGCTTGCAGAGG
ENST00000497886.5:n.2327+82_2327+99delinsAGCTCAGGCTTGCAGAGG
ENST00000568454.5:c.4401+82_4401+99delinsAGCTCAGGCTTGCAGAGG	ENSP00000454487.1:n.4401+82_4401+99delinsAGCTCAGGCTTGCAGAGG
ENST00000569110.1:c.751+82_751+99delinsAGCTCAGGCTTGCAGAGG
ENST00000569930.1:n.1684+82_1684+99delinsAGCTCAGGCTTGCAGAGG
NM_000548.3:c.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG , LRG_487t1:c.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG	NP_000539.2:n.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG
NM_001077183.1:c.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG	NP_001070651.1:n.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG
NM_001114382.1:c.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG	NP_001107854.1:n.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG
XM_005255529.3:c.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG	XP_005255586.2:n.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG
XM_005255531.3:c.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG	XP_005255588.2:n.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG
XM_011522636.1:c.4623+82_4623+99delinsAGCTCAGGCTTGCAGAGG	XP_011520938.1:n.4623+82_4623+99delinsAGCTCAGGCTTGCAGAGG
XM_011522637.1:c.4620+82_4620+99delinsAGCTCAGGCTTGCAGAGG	XP_011520939.1:n.4620+82_4620+99delinsAGCTCAGGCTTGCAGAGG
XM_011522638.1:c.4512+82_4512+99delinsAGCTCAGGCTTGCAGAGG	XP_011520940.1:n.4512+82_4512+99delinsAGCTCAGGCTTGCAGAGG
XM_011522639.1:c.4494+82_4494+99delinsAGCTCAGGCTTGCAGAGG	XP_011520941.1:n.4494+82_4494+99delinsAGCTCAGGCTTGCAGAGG
XM_011522640.1:c.4491+82_4491+99delinsAGCTCAGGCTTGCAGAGG	XP_011520942.1:n.4491+82_4491+99delinsAGCTCAGGCTTGCAGAGG
XM_011522641.1:c.4260+82_4260+99delinsAGCTCAGGCTTGCAGAGG	XP_011520943.1:n.4260+82_4260+99delinsAGCTCAGGCTTGCAGAGG
NM_000548.4:c.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG	NP_000539.2:n.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG
NM_001077183.2:c.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG	NP_001070651.1:n.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG
NM_001114382.2:c.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG	NP_001107854.1:n.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG
NM_001318827.1:c.4260+82_4260+99delinsAGCTCAGGCTTGCAGAGG	NP_001305756.1:n.4260+82_4260+99delinsAGCTCAGGCTTGCAGAGG
NM_001318829.1:c.4224+82_4224+99delinsAGCTCAGGCTTGCAGAGG	NP_001305758.1:n.4224+82_4224+99delinsAGCTCAGGCTTGCAGAGG
NM_001318831.1:c.3837+82_3837+99delinsAGCTCAGGCTTGCAGAGG	NP_001305760.1:n.3837+82_3837+99delinsAGCTCAGGCTTGCAGAGG
NM_001318832.1:c.4401+82_4401+99delinsAGCTCAGGCTTGCAGAGG	NP_001305761.1:n.4401+82_4401+99delinsAGCTCAGGCTTGCAGAGG
NM_001363528.1:c.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG	NP_001350457.1:n.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG
NM_021055.2:c.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG	NP_066399.2:n.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG
XM_005255531.4:c.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG	XP_005255588.2:n.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG
XM_011522636.2:c.4623+82_4623+99delinsAGCTCAGGCTTGCAGAGG	XP_011520938.1:n.4623+82_4623+99delinsAGCTCAGGCTTGCAGAGG
XM_011522637.2:c.4620+82_4620+99delinsAGCTCAGGCTTGCAGAGG	XP_011520939.1:n.4620+82_4620+99delinsAGCTCAGGCTTGCAGAGG
XM_011522638.2:c.4785+82_4785+99delinsAGCTCAGGCTTGCAGAGG	XP_011520940.2:n.4785+82_4785+99delinsAGCTCAGGCTTGCAGAGG
XM_011522639.2:c.4494+82_4494+99delinsAGCTCAGGCTTGCAGAGG	XP_011520941.1:n.4494+82_4494+99delinsAGCTCAGGCTTGCAGAGG
XM_011522640.2:c.4491+82_4491+99delinsAGCTCAGGCTTGCAGAGG	XP_011520942.1:n.4491+82_4491+99delinsAGCTCAGGCTTGCAGAGG
XM_017023615.1:c.4566+82_4566+99delinsAGCTCAGGCTTGCAGAGG	XP_016879104.1:n.4566+82_4566+99delinsAGCTCAGGCTTGCAGAGG
XM_017023616.1:c.4437+82_4437+99delinsAGCTCAGGCTTGCAGAGG	XP_016879105.1:n.4437+82_4437+99delinsAGCTCAGGCTTGCAGAGG
XM_017023617.1:c.4533+82_4533+99delinsAGCTCAGGCTTGCAGAGG	XP_016879106.1:n.4533+82_4533+99delinsAGCTCAGGCTTGCAGAGG
XM_017023618.1:c.3279+82_3279+99delinsAGCTCAGGCTTGCAGAGG	XP_016879107.1:n.3279+82_3279+99delinsAGCTCAGGCTTGCAGAGG
XM_024450413.1:c.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG	XP_024306181.1:n.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG
NM_000548.5:c.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG MANE Select	NP_000539.2:n.4569+82_4569+99delinsAGCTCAGGCTTGCAGAGG
NM_001370404.1:c.4437+82_4437+99delinsAGCTCAGGCTTGCAGAGG	NP_001357333.1:n.4437+82_4437+99delinsAGCTCAGGCTTGCAGAGG
NM_001370405.1:c.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG	NP_001357334.1:n.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG
NM_001077183.3:c.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG	NP_001070651.1:n.4368+82_4368+99delinsAGCTCAGGCTTGCAGAGG
NM_001114382.3:c.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG	NP_001107854.1:n.4500+82_4500+99delinsAGCTCAGGCTTGCAGAGG
NM_001318827.2:c.4260+82_4260+99delinsAGCTCAGGCTTGCAGAGG	NP_001305756.1:n.4260+82_4260+99delinsAGCTCAGGCTTGCAGAGG
NM_001318829.2:c.4224+82_4224+99delinsAGCTCAGGCTTGCAGAGG	NP_001305758.1:n.4224+82_4224+99delinsAGCTCAGGCTTGCAGAGG
NM_001318831.2:c.3837+82_3837+99delinsAGCTCAGGCTTGCAGAGG	NP_001305760.1:n.3837+82_3837+99delinsAGCTCAGGCTTGCAGAGG
NM_001318832.2:c.4401+82_4401+99delinsAGCTCAGGCTTGCAGAGG	NP_001305761.1:n.4401+82_4401+99delinsAGCTCAGGCTTGCAGAGG
NM_001363528.2:c.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG	NP_001350457.1:n.4371+82_4371+99delinsAGCTCAGGCTTGCAGAGG
NM_021055.3:c.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG	NP_066399.2:n.4440+82_4440+99delinsAGCTCAGGCTTGCAGAGG