Canonical Allele Identifier: CA2695221591

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086381_2086384del , CM000678.2:g.2086381_2086384del	GRCh38
NC_000016.9:g.2136382_2136385del , CM000678.1:g.2136382_2136385del	GRCh37
NC_000016.8:g.2076383_2076386del	NCBI36
NG_005895.1:g.42076_42079del , LRG_487:g.42076_42079del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3198+2_*3198+5del	ENSP00000455997.2:n.*3198+2_*3198+5del
ENST00000642206.2:c.4696+2_4696+5del	ENSP00000495146.2:n.4696+2_4696+5del
ENST00000642365.2:c.4846+2_4846+5del	ENSP00000495459.2:n.4846+2_4846+5del
ENST00000644417.2:c.*5362+2_*5362+5del	ENSP00000493912.2:n.*5362+2_*5362+5del
ENST00000646464.2:c.*7598+2_*7598+5del	ENSP00000496610.2:n.*7598+2_*7598+5del
ENST00000219476.9:c.4849+2_4849+5del MANE Select	ENSP00000219476.3:n.4849+2_4849+5del
ENST00000350773.9:c.4780+2_4780+5del	ENSP00000344383.4:n.4780+2_4780+5del
ENST00000401874.7:c.4648+2_4648+5del	ENSP00000384468.2:n.4648+2_4648+5del
ENST00000568454.6:c.4681+2_4681+5del	ENSP00000454487.1:n.4681+2_4681+5del
ENST00000569110.2:c.1072+2_1072+5del
ENST00000569930.2:n.2731+2_2731+5del
ENST00000642365.1:c.3503+2_3503+5del
ENST00000642561.1:c.4720+2_4720+5del	ENSP00000495099.1:n.4720+2_4720+5del
ENST00000642728.1:n.1031+2_1031+5del
ENST00000642791.1:n.446+2_446+5del
ENST00000642797.1:c.4651+2_4651+5del	ENSP00000493846.1:n.4651+2_4651+5del
ENST00000642936.1:c.4717+2_4717+5del	ENSP00000494514.1:n.4717+2_4717+5del
ENST00000643088.1:c.4642+2_4642+5del	ENSP00000494747.1:n.4642+2_4642+5del
ENST00000643177.1:n.863+2_863+5del
ENST00000643426.1:n.2497+2_2497+5del
ENST00000643946.1:c.4774+2_4774+5del	ENSP00000495927.1:n.4774+2_4774+5del
ENST00000644043.1:c.4720+2_4720+5del	ENSP00000496262.1:n.4720+2_4720+5del
ENST00000644278.1:n.331+2_331+5del
ENST00000644329.1:c.4648+2_4648+5del	ENSP00000496611.1:n.4648+2_4648+5del
ENST00000644335.1:c.4645+2_4645+5del	ENSP00000496317.1:n.4645+2_4645+5del
ENST00000644399.1:c.4770+2_4770+5del
ENST00000645024.1:n.2933+2_2933+5del
ENST00000646388.1:c.4843+2_4843+5del	ENSP00000495921.1:n.4843+2_4843+5del
ENST00000646557.1:n.10+2_10+5del
ENST00000646634.1:n.3664+2_3664+5del
ENST00000646674.1:n.2101+2_2101+5del
ENST00000647042.1:n.2072+2_2072+5del
ENST00000647180.1:n.1962+2_1962+5del
ENST00000219476.7:c.4849+2_4849+5del	ENSP00000219476.3:n.4849+2_4849+5del
ENST00000350773.8:c.4780+2_4780+5del	ENSP00000344383.4:n.4780+2_4780+5del
ENST00000382538.10:c.4504+2_4504+5del	ENSP00000371978.6:n.4504+2_4504+5del
ENST00000401874.6:c.4648+2_4648+5del	ENSP00000384468.2:n.4648+2_4648+5del
ENST00000439117.6:c.*4016+2_*4016+5del	ENSP00000406980.2:n.*4016+2_*4016+5del
ENST00000439673.6:c.4540+2_4540+5del	ENSP00000399232.2:n.4540+2_4540+5del
ENST00000497886.5:n.2607+2_2607+5del
ENST00000568454.5:c.4681+2_4681+5del	ENSP00000454487.1:n.4681+2_4681+5del
ENST00000569110.1:c.1031+2_1031+5del
ENST00000569930.1:n.1964+2_1964+5del
NM_000548.3:c.4849+2_4849+5del , LRG_487t1:c.4849+2_4849+5del	NP_000539.2:n.4849+2_4849+5del
NM_001077183.1:c.4648+2_4648+5del	NP_001070651.1:n.4648+2_4648+5del
NM_001114382.1:c.4780+2_4780+5del	NP_001107854.1:n.4780+2_4780+5del
XM_005255529.3:c.4720+2_4720+5del	XP_005255586.2:n.4720+2_4720+5del
XM_005255531.3:c.4651+2_4651+5del	XP_005255588.2:n.4651+2_4651+5del
XM_011522636.1:c.4903+2_4903+5del	XP_011520938.1:n.4903+2_4903+5del
XM_011522637.1:c.4900+2_4900+5del	XP_011520939.1:n.4900+2_4900+5del
XM_011522638.1:c.4792+2_4792+5del	XP_011520940.1:n.4792+2_4792+5del
XM_011522639.1:c.4774+2_4774+5del	XP_011520941.1:n.4774+2_4774+5del
XM_011522640.1:c.4771+2_4771+5del	XP_011520942.1:n.4771+2_4771+5del
XM_011522641.1:c.4540+2_4540+5del	XP_011520943.1:n.4540+2_4540+5del
NM_000548.4:c.4849+2_4849+5del	NP_000539.2:n.4849+2_4849+5del
NM_001077183.2:c.4648+2_4648+5del	NP_001070651.1:n.4648+2_4648+5del
NM_001114382.2:c.4780+2_4780+5del	NP_001107854.1:n.4780+2_4780+5del
NM_001318827.1:c.4540+2_4540+5del	NP_001305756.1:n.4540+2_4540+5del
NM_001318829.1:c.4504+2_4504+5del	NP_001305758.1:n.4504+2_4504+5del
NM_001318831.1:c.4117+2_4117+5del	NP_001305760.1:n.4117+2_4117+5del
NM_001318832.1:c.4681+2_4681+5del	NP_001305761.1:n.4681+2_4681+5del
NM_001363528.1:c.4651+2_4651+5del	NP_001350457.1:n.4651+2_4651+5del
NM_021055.2:c.4720+2_4720+5del	NP_066399.2:n.4720+2_4720+5del
XM_005255531.4:c.4651+2_4651+5del	XP_005255588.2:n.4651+2_4651+5del
XM_011522636.2:c.4903+2_4903+5del	XP_011520938.1:n.4903+2_4903+5del
XM_011522637.2:c.4900+2_4900+5del	XP_011520939.1:n.4900+2_4900+5del
XM_011522638.2:c.5065+2_5065+5del	XP_011520940.2:n.5065+2_5065+5del
XM_011522639.2:c.4774+2_4774+5del	XP_011520941.1:n.4774+2_4774+5del
XM_011522640.2:c.4771+2_4771+5del	XP_011520942.1:n.4771+2_4771+5del
XM_017023615.1:c.4846+2_4846+5del	XP_016879104.1:n.4846+2_4846+5del
XM_017023616.1:c.4717+2_4717+5del	XP_016879105.1:n.4717+2_4717+5del
XM_017023617.1:c.4813+2_4813+5del	XP_016879106.1:n.4813+2_4813+5del
XM_017023618.1:c.3559+2_3559+5del	XP_016879107.1:n.3559+2_3559+5del
XM_024450413.1:c.4648+2_4648+5del	XP_024306181.1:n.4648+2_4648+5del
NM_000548.5:c.4849+2_4849+5del MANE Select	NP_000539.2:n.4849+2_4849+5del
NM_001370404.1:c.4717+2_4717+5del	NP_001357333.1:n.4717+2_4717+5del
NM_001370405.1:c.4720+2_4720+5del	NP_001357334.1:n.4720+2_4720+5del
NM_001077183.3:c.4648+2_4648+5del	NP_001070651.1:n.4648+2_4648+5del
NM_001114382.3:c.4780+2_4780+5del	NP_001107854.1:n.4780+2_4780+5del
NM_001318827.2:c.4540+2_4540+5del	NP_001305756.1:n.4540+2_4540+5del
NM_001318829.2:c.4504+2_4504+5del	NP_001305758.1:n.4504+2_4504+5del
NM_001318831.2:c.4117+2_4117+5del	NP_001305760.1:n.4117+2_4117+5del
NM_001318832.2:c.4681+2_4681+5del	NP_001305761.1:n.4681+2_4681+5del
NM_001363528.2:c.4651+2_4651+5del	NP_001350457.1:n.4651+2_4651+5del
NM_021055.3:c.4720+2_4720+5del	NP_066399.2:n.4720+2_4720+5del