Canonical Allele Identifier: CA2695222000

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084242_2084243insTCCTC , CM000678.2:g.2084242_2084243insTCCTC	GRCh38
NC_000016.9:g.2134243_2134244insTCCTC , CM000678.1:g.2134243_2134244insTCCTC	GRCh37
NC_000016.8:g.2074244_2074245insTCCTC	NCBI36
NG_005895.1:g.39937_39938insTCCTC , LRG_487:g.39937_39938insTCCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2369_*2370insTCCTC	ENSP00000455997.2:n.*2369_*2370insTCCTC
ENST00000642206.2:c.3867_3868insTCCTC	ENSP00000495146.2:p.Gln1291SerfsTer?
ENST00000642365.2:c.4017_4018insTCCTC	ENSP00000495459.2:p.Gln1341SerfsTer?
ENST00000644417.2:c.*4400_*4401insTCCTC	ENSP00000493912.2:n.*4400_*4401insTCCTC
ENST00000646464.2:c.*6769_*6770insTCCTC	ENSP00000496610.2:n.*6769_*6770insTCCTC
ENST00000219476.9:c.4020_4021insTCCTC MANE Select	ENSP00000219476.3:p.Gln1342SerfsTer?
ENST00000350773.9:c.3951_3952insTCCTC	ENSP00000344383.4:p.Gln1319SerfsTer?
ENST00000401874.7:c.3819_3820insTCCTC	ENSP00000384468.2:p.Gln1275SerfsTer?
ENST00000568454.6:c.3852_3853insTCCTC	ENSP00000454487.1:p.Gln1286SerfsTer?
ENST00000569110.2:c.256_257insTCCTC
ENST00000569930.2:n.1902_1903insTCCTC
ENST00000642365.1:c.2674_2675insTCCTC
ENST00000642561.1:c.3891_3892insTCCTC	ENSP00000495099.1:p.Gln1299SerfsTer?
ENST00000642728.1:n.202_203insTCCTC
ENST00000642797.1:c.3822_3823insTCCTC	ENSP00000493846.1:p.Gln1276SerfsTer?
ENST00000642936.1:c.3888_3889insTCCTC	ENSP00000494514.1:p.Gln1298SerfsTer?
ENST00000643088.1:c.3819_3820insTCCTC	ENSP00000494747.1:p.Gln1275SerfsTer?
ENST00000643177.1:n.34_35insTCCTC
ENST00000643426.1:n.1668_1669insTCCTC
ENST00000643533.1:n.461_462insTCCTC
ENST00000643946.1:c.3951_3952insTCCTC	ENSP00000495927.1:p.Gln1319SerfsTer?
ENST00000644043.1:c.3891_3892insTCCTC	ENSP00000496262.1:p.Gln1299SerfsTer?
ENST00000644329.1:c.3819_3820insTCCTC	ENSP00000496611.1:p.Gln1275SerfsTer?
ENST00000644335.1:c.3822_3823insTCCTC	ENSP00000496317.1:p.Gln1276SerfsTer?
ENST00000644399.1:c.3941_3942insTCCTC
ENST00000645024.1:n.2104_2105insTCCTC
ENST00000645186.1:c.263_264insTCCTC
ENST00000646388.1:c.4020_4021insTCCTC	ENSP00000495921.1:p.Gln1342SerfsTer?
ENST00000646634.1:n.2835_2836insTCCTC
ENST00000646674.1:n.1272_1273insTCCTC
ENST00000647042.1:n.1243_1244insTCCTC
ENST00000647180.1:n.1133_1134insTCCTC
ENST00000219476.7:c.4020_4021insTCCTC	ENSP00000219476.3:p.Gln1342SerfsTer?
ENST00000350773.8:c.3951_3952insTCCTC	ENSP00000344383.4:p.Gln1319SerfsTer?
ENST00000382538.10:c.3675_3676insTCCTC	ENSP00000371978.6:p.Gln1227SerfsTer?
ENST00000401874.6:c.3819_3820insTCCTC	ENSP00000384468.2:p.Gln1275SerfsTer?
ENST00000439117.6:c.*3187_*3188insTCCTC	ENSP00000406980.2:n.*3187_*3188insTCCTC
ENST00000439673.6:c.3711_3712insTCCTC	ENSP00000399232.2:p.Gln1239SerfsTer?
ENST00000497886.5:n.1778_1779insTCCTC
ENST00000568454.5:c.3852_3853insTCCTC	ENSP00000454487.1:p.Gln1286SerfsTer?
ENST00000569110.1:c.202_203insTCCTC
ENST00000569930.1:n.1135_1136insTCCTC
NM_000548.3:c.4020_4021insTCCTC , LRG_487t1:c.4020_4021insTCCTC	NP_000539.2:p.Gln1342SerfsTer?
NM_001077183.1:c.3819_3820insTCCTC	NP_001070651.1:p.Gln1275SerfsTer?
NM_001114382.1:c.3951_3952insTCCTC	NP_001107854.1:p.Gln1319SerfsTer?
XM_005255529.3:c.3891_3892insTCCTC	XP_005255586.2:p.Gln1299SerfsTer?
XM_005255531.3:c.3822_3823insTCCTC	XP_005255588.2:p.Gln1276SerfsTer?
XM_011522636.1:c.4074_4075insTCCTC	XP_011520938.1:p.Gln1360SerfsTer?
XM_011522637.1:c.4071_4072insTCCTC	XP_011520939.1:p.Gln1359SerfsTer?
XM_011522638.1:c.3963_3964insTCCTC	XP_011520940.1:p.Gln1323SerfsTer?
XM_011522639.1:c.3945_3946insTCCTC	XP_011520941.1:p.Gln1317SerfsTer?
XM_011522640.1:c.3942_3943insTCCTC	XP_011520942.1:p.Gln1316SerfsTer?
XM_011522641.1:c.3711_3712insTCCTC	XP_011520943.1:p.Gln1239SerfsTer?
NM_000548.4:c.4020_4021insTCCTC	NP_000539.2:p.Gln1342SerfsTer?
NM_001077183.2:c.3819_3820insTCCTC	NP_001070651.1:p.Gln1275SerfsTer?
NM_001114382.2:c.3951_3952insTCCTC	NP_001107854.1:p.Gln1319SerfsTer?
NM_001318827.1:c.3711_3712insTCCTC	NP_001305756.1:p.Gln1239SerfsTer?
NM_001318829.1:c.3675_3676insTCCTC	NP_001305758.1:p.Gln1227SerfsTer?
NM_001318831.1:c.3288_3289insTCCTC	NP_001305760.1:p.Gln1098SerfsTer?
NM_001318832.1:c.3852_3853insTCCTC	NP_001305761.1:p.Gln1286SerfsTer?
NM_001363528.1:c.3822_3823insTCCTC	NP_001350457.1:p.Gln1276SerfsTer?
NM_021055.2:c.3891_3892insTCCTC	NP_066399.2:p.Gln1299SerfsTer?
XM_005255531.4:c.3822_3823insTCCTC	XP_005255588.2:p.Gln1276SerfsTer?
XM_011522636.2:c.4074_4075insTCCTC	XP_011520938.1:p.Gln1360SerfsTer?
XM_011522637.2:c.4071_4072insTCCTC	XP_011520939.1:p.Gln1359SerfsTer?
XM_011522638.2:c.4236_4237insTCCTC	XP_011520940.2:p.Gln1414SerfsTer?
XM_011522639.2:c.3945_3946insTCCTC	XP_011520941.1:p.Gln1317SerfsTer?
XM_011522640.2:c.3942_3943insTCCTC	XP_011520942.1:p.Gln1316SerfsTer?
XM_017023615.1:c.4017_4018insTCCTC	XP_016879104.1:p.Gln1341SerfsTer?
XM_017023616.1:c.3888_3889insTCCTC	XP_016879105.1:p.Gln1298SerfsTer?
XM_017023617.1:c.3984_3985insTCCTC	XP_016879106.1:p.Gln1330SerfsTer?
XM_017023618.1:c.2730_2731insTCCTC	XP_016879107.1:p.Gln912SerfsTer?
XM_024450413.1:c.3819_3820insTCCTC	XP_024306181.1:p.Gln1275SerfsTer?
NM_000548.5:c.4020_4021insTCCTC MANE Select	NP_000539.2:p.Gln1342SerfsTer?
NM_001370404.1:c.3888_3889insTCCTC	NP_001357333.1:p.Gln1298SerfsTer?
NM_001370405.1:c.3891_3892insTCCTC	NP_001357334.1:p.Gln1299SerfsTer?
NM_001077183.3:c.3819_3820insTCCTC	NP_001070651.1:p.Gln1275SerfsTer?
NM_001114382.3:c.3951_3952insTCCTC	NP_001107854.1:p.Gln1319SerfsTer?
NM_001318827.2:c.3711_3712insTCCTC	NP_001305756.1:p.Gln1239SerfsTer?
NM_001318829.2:c.3675_3676insTCCTC	NP_001305758.1:p.Gln1227SerfsTer?
NM_001318831.2:c.3288_3289insTCCTC	NP_001305760.1:p.Gln1098SerfsTer?
NM_001318832.2:c.3852_3853insTCCTC	NP_001305761.1:p.Gln1286SerfsTer?
NM_001363528.2:c.3822_3823insTCCTC	NP_001350457.1:p.Gln1276SerfsTer?
NM_021055.3:c.3891_3892insTCCTC	NP_066399.2:p.Gln1299SerfsTer?