Canonical Allele Identifier: CA2202043239

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084197_2084199delinsCAG , CM000678.2:g.2084197_2084199delinsCAG	GRCh38
NC_000016.9:g.2134198_2134200delinsCAG , CM000678.1:g.2134198_2134200delinsCAG	GRCh37
NC_000016.8:g.2074199_2074201delinsCAG	NCBI36
NG_005895.1:g.39892_39894delinsCAG , LRG_487:g.39892_39894delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2355-31_*2355-29delinsCAG	ENSP00000455997.2:n.*2355-31_*2355-29delinsCAG
ENST00000642206.2:c.3853-31_3853-29delinsCAG	ENSP00000495146.2:n.3853-31_3853-29delinsCAG
ENST00000642365.2:c.4003-31_4003-29delinsCAG	ENSP00000495459.2:n.4003-31_4003-29delinsCAG
ENST00000644417.2:c.*4386-31_*4386-29delinsCAG	ENSP00000493912.2:n.*4386-31_*4386-29delinsCAG
ENST00000646464.2:c.*6755-31_*6755-29delinsCAG	ENSP00000496610.2:n.*6755-31_*6755-29delinsCAG
ENST00000219476.9:c.4006-31_4006-29delinsCAG MANE Select	ENSP00000219476.3:n.4006-31_4006-29delinsCAG
ENST00000350773.9:c.3937-31_3937-29delinsCAG	ENSP00000344383.4:n.3937-31_3937-29delinsCAG
ENST00000401874.7:c.3805-31_3805-29delinsCAG	ENSP00000384468.2:n.3805-31_3805-29delinsCAG
ENST00000568454.6:c.3838-31_3838-29delinsCAG	ENSP00000454487.1:n.3838-31_3838-29delinsCAG
ENST00000569110.2:c.242-31_242-29delinsCAG
ENST00000569930.2:n.1888-31_1888-29delinsCAG
ENST00000642365.1:c.2660-31_2660-29delinsCAG
ENST00000642561.1:c.3877-31_3877-29delinsCAG	ENSP00000495099.1:n.3877-31_3877-29delinsCAG
ENST00000642728.1:n.188-31_188-29delinsCAG
ENST00000642797.1:c.3808-31_3808-29delinsCAG	ENSP00000493846.1:n.3808-31_3808-29delinsCAG
ENST00000642936.1:c.3874-31_3874-29delinsCAG	ENSP00000494514.1:n.3874-31_3874-29delinsCAG
ENST00000643088.1:c.3805-31_3805-29delinsCAG	ENSP00000494747.1:n.3805-31_3805-29delinsCAG
ENST00000643177.1:n.20-31_20-29delinsCAG
ENST00000643426.1:n.1654-31_1654-29delinsCAG
ENST00000643533.1:n.447-31_447-29delinsCAG
ENST00000643946.1:c.3937-31_3937-29delinsCAG	ENSP00000495927.1:n.3937-31_3937-29delinsCAG
ENST00000644043.1:c.3877-31_3877-29delinsCAG	ENSP00000496262.1:n.3877-31_3877-29delinsCAG
ENST00000644329.1:c.3805-31_3805-29delinsCAG	ENSP00000496611.1:n.3805-31_3805-29delinsCAG
ENST00000644335.1:c.3808-31_3808-29delinsCAG	ENSP00000496317.1:n.3808-31_3808-29delinsCAG
ENST00000644399.1:c.3927-31_3927-29delinsCAG
ENST00000645024.1:n.2090-31_2090-29delinsCAG
ENST00000645186.1:c.249-31_249-29delinsCAG
ENST00000646388.1:c.4006-31_4006-29delinsCAG	ENSP00000495921.1:n.4006-31_4006-29delinsCAG
ENST00000646634.1:n.2821-31_2821-29delinsCAG
ENST00000646674.1:n.1258-31_1258-29delinsCAG
ENST00000647042.1:n.1229-31_1229-29delinsCAG
ENST00000647180.1:n.1119-31_1119-29delinsCAG
ENST00000219476.7:c.4006-31_4006-29delinsCAG	ENSP00000219476.3:n.4006-31_4006-29delinsCAG
ENST00000350773.8:c.3937-31_3937-29delinsCAG	ENSP00000344383.4:n.3937-31_3937-29delinsCAG
ENST00000382538.10:c.3661-31_3661-29delinsCAG	ENSP00000371978.6:n.3661-31_3661-29delinsCAG
ENST00000401874.6:c.3805-31_3805-29delinsCAG	ENSP00000384468.2:n.3805-31_3805-29delinsCAG
ENST00000439117.6:c.*3173-31_*3173-29delinsCAG	ENSP00000406980.2:n.*3173-31_*3173-29delinsCAG
ENST00000439673.6:c.3697-31_3697-29delinsCAG	ENSP00000399232.2:n.3697-31_3697-29delinsCAG
ENST00000497886.5:n.1764-31_1764-29delinsCAG
ENST00000568454.5:c.3838-31_3838-29delinsCAG	ENSP00000454487.1:n.3838-31_3838-29delinsCAG
ENST00000569110.1:c.188-31_188-29delinsCAG
ENST00000569930.1:n.1121-31_1121-29delinsCAG
NM_000548.3:c.4006-31_4006-29delinsCAG , LRG_487t1:c.4006-31_4006-29delinsCAG	NP_000539.2:n.4006-31_4006-29delinsCAG
NM_001077183.1:c.3805-31_3805-29delinsCAG	NP_001070651.1:n.3805-31_3805-29delinsCAG
NM_001114382.1:c.3937-31_3937-29delinsCAG	NP_001107854.1:n.3937-31_3937-29delinsCAG
XM_005255529.3:c.3877-31_3877-29delinsCAG	XP_005255586.2:n.3877-31_3877-29delinsCAG
XM_005255531.3:c.3808-31_3808-29delinsCAG	XP_005255588.2:n.3808-31_3808-29delinsCAG
XM_011522636.1:c.4060-31_4060-29delinsCAG	XP_011520938.1:n.4060-31_4060-29delinsCAG
XM_011522637.1:c.4057-31_4057-29delinsCAG	XP_011520939.1:n.4057-31_4057-29delinsCAG
XM_011522638.1:c.3949-31_3949-29delinsCAG	XP_011520940.1:n.3949-31_3949-29delinsCAG
XM_011522639.1:c.3931-31_3931-29delinsCAG	XP_011520941.1:n.3931-31_3931-29delinsCAG
XM_011522640.1:c.3928-31_3928-29delinsCAG	XP_011520942.1:n.3928-31_3928-29delinsCAG
XM_011522641.1:c.3697-31_3697-29delinsCAG	XP_011520943.1:n.3697-31_3697-29delinsCAG
NM_000548.4:c.4006-31_4006-29delinsCAG	NP_000539.2:n.4006-31_4006-29delinsCAG
NM_001077183.2:c.3805-31_3805-29delinsCAG	NP_001070651.1:n.3805-31_3805-29delinsCAG
NM_001114382.2:c.3937-31_3937-29delinsCAG	NP_001107854.1:n.3937-31_3937-29delinsCAG
NM_001318827.1:c.3697-31_3697-29delinsCAG	NP_001305756.1:n.3697-31_3697-29delinsCAG
NM_001318829.1:c.3661-31_3661-29delinsCAG	NP_001305758.1:n.3661-31_3661-29delinsCAG
NM_001318831.1:c.3274-31_3274-29delinsCAG	NP_001305760.1:n.3274-31_3274-29delinsCAG
NM_001318832.1:c.3838-31_3838-29delinsCAG	NP_001305761.1:n.3838-31_3838-29delinsCAG
NM_001363528.1:c.3808-31_3808-29delinsCAG	NP_001350457.1:n.3808-31_3808-29delinsCAG
NM_021055.2:c.3877-31_3877-29delinsCAG	NP_066399.2:n.3877-31_3877-29delinsCAG
XM_005255531.4:c.3808-31_3808-29delinsCAG	XP_005255588.2:n.3808-31_3808-29delinsCAG
XM_011522636.2:c.4060-31_4060-29delinsCAG	XP_011520938.1:n.4060-31_4060-29delinsCAG
XM_011522637.2:c.4057-31_4057-29delinsCAG	XP_011520939.1:n.4057-31_4057-29delinsCAG
XM_011522638.2:c.4222-31_4222-29delinsCAG	XP_011520940.2:n.4222-31_4222-29delinsCAG
XM_011522639.2:c.3931-31_3931-29delinsCAG	XP_011520941.1:n.3931-31_3931-29delinsCAG
XM_011522640.2:c.3928-31_3928-29delinsCAG	XP_011520942.1:n.3928-31_3928-29delinsCAG
XM_017023615.1:c.4003-31_4003-29delinsCAG	XP_016879104.1:n.4003-31_4003-29delinsCAG
XM_017023616.1:c.3874-31_3874-29delinsCAG	XP_016879105.1:n.3874-31_3874-29delinsCAG
XM_017023617.1:c.3970-31_3970-29delinsCAG	XP_016879106.1:n.3970-31_3970-29delinsCAG
XM_017023618.1:c.2716-31_2716-29delinsCAG	XP_016879107.1:n.2716-31_2716-29delinsCAG
XM_024450413.1:c.3805-31_3805-29delinsCAG	XP_024306181.1:n.3805-31_3805-29delinsCAG
NM_000548.5:c.4006-31_4006-29delinsCAG MANE Select	NP_000539.2:n.4006-31_4006-29delinsCAG
NM_001370404.1:c.3874-31_3874-29delinsCAG	NP_001357333.1:n.3874-31_3874-29delinsCAG
NM_001370405.1:c.3877-31_3877-29delinsCAG	NP_001357334.1:n.3877-31_3877-29delinsCAG
NM_001077183.3:c.3805-31_3805-29delinsCAG	NP_001070651.1:n.3805-31_3805-29delinsCAG
NM_001114382.3:c.3937-31_3937-29delinsCAG	NP_001107854.1:n.3937-31_3937-29delinsCAG
NM_001318827.2:c.3697-31_3697-29delinsCAG	NP_001305756.1:n.3697-31_3697-29delinsCAG
NM_001318829.2:c.3661-31_3661-29delinsCAG	NP_001305758.1:n.3661-31_3661-29delinsCAG
NM_001318831.2:c.3274-31_3274-29delinsCAG	NP_001305760.1:n.3274-31_3274-29delinsCAG
NM_001318832.2:c.3838-31_3838-29delinsCAG	NP_001305761.1:n.3838-31_3838-29delinsCAG
NM_001363528.2:c.3808-31_3808-29delinsCAG	NP_001350457.1:n.3808-31_3808-29delinsCAG
NM_021055.3:c.3877-31_3877-29delinsCAG	NP_066399.2:n.3877-31_3877-29delinsCAG