Canonical Allele Identifier: CA2202018469
Gene: TSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085057_2085060delinsTGGA , CM000678.2:g.2085057_2085060delinsTGGA GRCh38
NC_000016.9:g.2135058_2135061delinsTGGA , CM000678.1:g.2135058_2135061delinsTGGA GRCh37
NC_000016.8:g.2075059_2075062delinsTGGA NCBI36
NG_005895.1:g.40752_40755delinsTGGA , LRG_487:g.40752_40755delinsTGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2918+31_*2918+34delinsTGGA ENSP00000455997.2:n.*2918+31_*2918+34delinsTGGA
ENST00000642206.2:c.4416+31_4416+34delinsTGGA ENSP00000495146.2:n.4416+31_4416+34delinsTGGA
ENST00000642365.2:c.4566+31_4566+34delinsTGGA ENSP00000495459.2:n.4566+31_4566+34delinsTGGA
ENST00000644417.2:c.*4949+31_*4949+34delinsTGGA ENSP00000493912.2:n.*4949+31_*4949+34delinsTGGA
ENST00000646464.2:c.*7318+31_*7318+34delinsTGGA ENSP00000496610.2:n.*7318+31_*7318+34delinsTGGA
ENST00000219476.9:c.4569+31_4569+34delinsTGGA MANE Select ENSP00000219476.3:n.4569+31_4569+34delinsTGGA
ENST00000350773.9:c.4500+31_4500+34delinsTGGA ENSP00000344383.4:n.4500+31_4500+34delinsTGGA
ENST00000401874.7:c.4368+31_4368+34delinsTGGA ENSP00000384468.2:n.4368+31_4368+34delinsTGGA
ENST00000568454.6:c.4401+31_4401+34delinsTGGA ENSP00000454487.1:n.4401+31_4401+34delinsTGGA
ENST00000569110.2:c.792+31_792+34delinsTGGA
ENST00000569930.2:n.2451+31_2451+34delinsTGGA
ENST00000642365.1:c.3223+31_3223+34delinsTGGA
ENST00000642561.1:c.4440+31_4440+34delinsTGGA ENSP00000495099.1:n.4440+31_4440+34delinsTGGA
ENST00000642728.1:n.751+31_751+34delinsTGGA
ENST00000642797.1:c.4371+31_4371+34delinsTGGA ENSP00000493846.1:n.4371+31_4371+34delinsTGGA
ENST00000642936.1:c.4437+31_4437+34delinsTGGA ENSP00000494514.1:n.4437+31_4437+34delinsTGGA
ENST00000643088.1:c.4368+31_4368+34delinsTGGA ENSP00000494747.1:n.4368+31_4368+34delinsTGGA
ENST00000643177.1:n.583+31_583+34delinsTGGA
ENST00000643426.1:n.2217+31_2217+34delinsTGGA
ENST00000643946.1:c.4500+31_4500+34delinsTGGA ENSP00000495927.1:n.4500+31_4500+34delinsTGGA
ENST00000644043.1:c.4440+31_4440+34delinsTGGA ENSP00000496262.1:n.4440+31_4440+34delinsTGGA
ENST00000644329.1:c.4368+31_4368+34delinsTGGA ENSP00000496611.1:n.4368+31_4368+34delinsTGGA
ENST00000644335.1:c.4371+31_4371+34delinsTGGA ENSP00000496317.1:n.4371+31_4371+34delinsTGGA
ENST00000644399.1:c.4490+31_4490+34delinsTGGA
ENST00000645024.1:n.2653+31_2653+34delinsTGGA
ENST00000646388.1:c.4569+31_4569+34delinsTGGA ENSP00000495921.1:n.4569+31_4569+34delinsTGGA
ENST00000646634.1:n.3384+31_3384+34delinsTGGA
ENST00000646674.1:n.1821+31_1821+34delinsTGGA
ENST00000647042.1:n.1792+31_1792+34delinsTGGA
ENST00000647180.1:n.1682+31_1682+34delinsTGGA
ENST00000219476.7:c.4569+31_4569+34delinsTGGA ENSP00000219476.3:n.4569+31_4569+34delinsTGGA
ENST00000350773.8:c.4500+31_4500+34delinsTGGA ENSP00000344383.4:n.4500+31_4500+34delinsTGGA
ENST00000382538.10:c.4224+31_4224+34delinsTGGA ENSP00000371978.6:n.4224+31_4224+34delinsTGGA
ENST00000401874.6:c.4368+31_4368+34delinsTGGA ENSP00000384468.2:n.4368+31_4368+34delinsTGGA
ENST00000439117.6:c.*3736+31_*3736+34delinsTGGA ENSP00000406980.2:n.*3736+31_*3736+34delinsTGGA
ENST00000439673.6:c.4260+31_4260+34delinsTGGA ENSP00000399232.2:n.4260+31_4260+34delinsTGGA
ENST00000497886.5:n.2327+31_2327+34delinsTGGA
ENST00000568454.5:c.4401+31_4401+34delinsTGGA ENSP00000454487.1:n.4401+31_4401+34delinsTGGA
ENST00000569110.1:c.751+31_751+34delinsTGGA
ENST00000569930.1:n.1684+31_1684+34delinsTGGA
NM_000548.3:c.4569+31_4569+34delinsTGGA , LRG_487t1:c.4569+31_4569+34delinsTGGA NP_000539.2:n.4569+31_4569+34delinsTGGA
NM_001077183.1:c.4368+31_4368+34delinsTGGA NP_001070651.1:n.4368+31_4368+34delinsTGGA
NM_001114382.1:c.4500+31_4500+34delinsTGGA NP_001107854.1:n.4500+31_4500+34delinsTGGA
XM_005255529.3:c.4440+31_4440+34delinsTGGA XP_005255586.2:n.4440+31_4440+34delinsTGGA
XM_005255531.3:c.4371+31_4371+34delinsTGGA XP_005255588.2:n.4371+31_4371+34delinsTGGA
XM_011522636.1:c.4623+31_4623+34delinsTGGA XP_011520938.1:n.4623+31_4623+34delinsTGGA
XM_011522637.1:c.4620+31_4620+34delinsTGGA XP_011520939.1:n.4620+31_4620+34delinsTGGA
XM_011522638.1:c.4512+31_4512+34delinsTGGA XP_011520940.1:n.4512+31_4512+34delinsTGGA
XM_011522639.1:c.4494+31_4494+34delinsTGGA XP_011520941.1:n.4494+31_4494+34delinsTGGA
XM_011522640.1:c.4491+31_4491+34delinsTGGA XP_011520942.1:n.4491+31_4491+34delinsTGGA
XM_011522641.1:c.4260+31_4260+34delinsTGGA XP_011520943.1:n.4260+31_4260+34delinsTGGA
NM_000548.4:c.4569+31_4569+34delinsTGGA NP_000539.2:n.4569+31_4569+34delinsTGGA
NM_001077183.2:c.4368+31_4368+34delinsTGGA NP_001070651.1:n.4368+31_4368+34delinsTGGA
NM_001114382.2:c.4500+31_4500+34delinsTGGA NP_001107854.1:n.4500+31_4500+34delinsTGGA
NM_001318827.1:c.4260+31_4260+34delinsTGGA NP_001305756.1:n.4260+31_4260+34delinsTGGA
NM_001318829.1:c.4224+31_4224+34delinsTGGA NP_001305758.1:n.4224+31_4224+34delinsTGGA
NM_001318831.1:c.3837+31_3837+34delinsTGGA NP_001305760.1:n.3837+31_3837+34delinsTGGA
NM_001318832.1:c.4401+31_4401+34delinsTGGA NP_001305761.1:n.4401+31_4401+34delinsTGGA
NM_001363528.1:c.4371+31_4371+34delinsTGGA NP_001350457.1:n.4371+31_4371+34delinsTGGA
NM_021055.2:c.4440+31_4440+34delinsTGGA NP_066399.2:n.4440+31_4440+34delinsTGGA
XM_005255531.4:c.4371+31_4371+34delinsTGGA XP_005255588.2:n.4371+31_4371+34delinsTGGA
XM_011522636.2:c.4623+31_4623+34delinsTGGA XP_011520938.1:n.4623+31_4623+34delinsTGGA
XM_011522637.2:c.4620+31_4620+34delinsTGGA XP_011520939.1:n.4620+31_4620+34delinsTGGA
XM_011522638.2:c.4785+31_4785+34delinsTGGA XP_011520940.2:n.4785+31_4785+34delinsTGGA
XM_011522639.2:c.4494+31_4494+34delinsTGGA XP_011520941.1:n.4494+31_4494+34delinsTGGA
XM_011522640.2:c.4491+31_4491+34delinsTGGA XP_011520942.1:n.4491+31_4491+34delinsTGGA
XM_017023615.1:c.4566+31_4566+34delinsTGGA XP_016879104.1:n.4566+31_4566+34delinsTGGA
XM_017023616.1:c.4437+31_4437+34delinsTGGA XP_016879105.1:n.4437+31_4437+34delinsTGGA
XM_017023617.1:c.4533+31_4533+34delinsTGGA XP_016879106.1:n.4533+31_4533+34delinsTGGA
XM_017023618.1:c.3279+31_3279+34delinsTGGA XP_016879107.1:n.3279+31_3279+34delinsTGGA
XM_024450413.1:c.4368+31_4368+34delinsTGGA XP_024306181.1:n.4368+31_4368+34delinsTGGA
NM_000548.5:c.4569+31_4569+34delinsTGGA MANE Select NP_000539.2:n.4569+31_4569+34delinsTGGA
NM_001370404.1:c.4437+31_4437+34delinsTGGA NP_001357333.1:n.4437+31_4437+34delinsTGGA
NM_001370405.1:c.4440+31_4440+34delinsTGGA NP_001357334.1:n.4440+31_4440+34delinsTGGA
NM_001077183.3:c.4368+31_4368+34delinsTGGA NP_001070651.1:n.4368+31_4368+34delinsTGGA
NM_001114382.3:c.4500+31_4500+34delinsTGGA NP_001107854.1:n.4500+31_4500+34delinsTGGA
NM_001318827.2:c.4260+31_4260+34delinsTGGA NP_001305756.1:n.4260+31_4260+34delinsTGGA
NM_001318829.2:c.4224+31_4224+34delinsTGGA NP_001305758.1:n.4224+31_4224+34delinsTGGA
NM_001318831.2:c.3837+31_3837+34delinsTGGA NP_001305760.1:n.3837+31_3837+34delinsTGGA
NM_001318832.2:c.4401+31_4401+34delinsTGGA NP_001305761.1:n.4401+31_4401+34delinsTGGA
NM_001363528.2:c.4371+31_4371+34delinsTGGA NP_001350457.1:n.4371+31_4371+34delinsTGGA
NM_021055.3:c.4440+31_4440+34delinsTGGA NP_066399.2:n.4440+31_4440+34delinsTGGA
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