Canonical Allele Identifier: CA2202031879
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088262_2088278delinsCACCGATATCTACCCCT , CM000678.2:g.2088262_2088278delinsCACCGATATCTACCCCT GRCh38
NC_000016.9:g.2138263_2138279delinsCACCGATATCTACCCCT , CM000678.1:g.2138263_2138279delinsCACCGATATCTACCCCT GRCh37
NC_000016.8:g.2078264_2078280delinsCACCGATATCTACCCCT NCBI36
NG_005895.1:g.43957_43973delinsCACCGATATCTACCCCT , LRG_487:g.43957_43973delinsCACCGATATCTACCCCT
NG_008617.1:g.54943_54959delinsAGGGGTAGATATCGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3545_*3561delinsCACCGATATCTACCCCT ENSP00000455997.2:n.*3545_*3561delinsCACCGATATCTACCCCT
ENST00000642206.2:c.5043_5059delinsCACCGATATCTACCCCT ENSP00000495146.2:p.Pro1681=
ENST00000642365.2:c.5193_5209delinsCACCGATATCTACCCCT ENSP00000495459.2:p.Pro1731=
ENST00000644417.2:c.*5709_*5725delinsCACCGATATCTACCCCT ENSP00000493912.2:n.*5709_*5725delinsCACCGATATCTACCCCT
ENST00000646464.2:c.*7945_*7961delinsCACCGATATCTACCCCT ENSP00000496610.2:n.*7945_*7961delinsCACCGATATCTACCCCT
ENST00000219476.9:c.5196_5212delinsCACCGATATCTACCCCT MANE Select ENSP00000219476.3:p.Pro1732=
ENST00000350773.9:c.5127_5143delinsCACCGATATCTACCCCT ENSP00000344383.4:p.Pro1709=
ENST00000401874.7:c.4995_5011delinsCACCGATATCTACCCCT ENSP00000384468.2:p.Pro1665=
ENST00000568454.6:c.5028_5044delinsCACCGATATCTACCCCT ENSP00000454487.1:p.Pro1676=
ENST00000569110.2:c.1419_1435delinsCACCGATATCTACCCCT
ENST00000569930.2:n.3078_3094delinsCACCGATATCTACCCCT
ENST00000642365.1:c.3850_3866delinsCACCGATATCTACCCCT
ENST00000642561.1:c.5055_5071delinsCACCGATATCTACCCCT ENSP00000495099.1:p.Pro1685=
ENST00000642791.1:n.793_809delinsCACCGATATCTACCCCT
ENST00000642797.1:c.4998_5014delinsCACCGATATCTACCCCT ENSP00000493846.1:p.Pro1666=
ENST00000642936.1:c.5064_5080delinsCACCGATATCTACCCCT ENSP00000494514.1:p.Pro1688=
ENST00000643088.1:c.4989_5005delinsCACCGATATCTACCCCT ENSP00000494747.1:p.Pro1663=
ENST00000643426.1:n.2844_2860delinsCACCGATATCTACCCCT
ENST00000643946.1:c.5121_5137delinsCACCGATATCTACCCCT ENSP00000495927.1:p.Pro1707=
ENST00000644043.1:c.5067_5083delinsCACCGATATCTACCCCT ENSP00000496262.1:p.Pro1689=
ENST00000644329.1:c.5082_5098delinsCACCGATATCTACCCCT ENSP00000496611.1:p.Pro1694=
ENST00000644335.1:c.4992_5008delinsCACCGATATCTACCCCT ENSP00000496317.1:p.Pro1664=
ENST00000644399.1:c.5117_5133delinsCACCGATATCTACCCCT
ENST00000645024.1:n.3280_3296delinsCACCGATATCTACCCCT
ENST00000646388.1:c.5190_5206delinsCACCGATATCTACCCCT ENSP00000495921.1:p.Pro1730=
ENST00000646634.1:n.4011_4027delinsCACCGATATCTACCCCT
ENST00000646674.1:n.2448_2464delinsCACCGATATCTACCCCT
ENST00000647042.1:n.2419_2435delinsCACCGATATCTACCCCT
ENST00000647180.1:n.2309_2325delinsCACCGATATCTACCCCT
ENST00000219476.7:c.5196_5212delinsCACCGATATCTACCCCT ENSP00000219476.3:p.Pro1732=
ENST00000350773.8:c.5127_5143delinsCACCGATATCTACCCCT ENSP00000344383.4:p.Pro1709=
ENST00000382538.10:c.4851_4867delinsCACCGATATCTACCCCT ENSP00000371978.6:p.Pro1617=
ENST00000401874.6:c.4995_5011delinsCACCGATATCTACCCCT ENSP00000384468.2:p.Pro1665=
ENST00000439117.6:c.*4363_*4379delinsCACCGATATCTACCCCT ENSP00000406980.2:n.*4363_*4379delinsCACCGATATCTACCCCT
ENST00000439673.6:c.4887_4903delinsCACCGATATCTACCCCT ENSP00000399232.2:p.Pro1629=
ENST00000497886.5:n.2919_2935delinsCACCGATATCTACCCCT
ENST00000568454.5:c.5028_5044delinsCACCGATATCTACCCCT ENSP00000454487.1:p.Pro1676=
ENST00000569110.1:c.1378_1394delinsCACCGATATCTACCCCT
ENST00000569930.1:n.2311_2327delinsCACCGATATCTACCCCT
NM_000548.3:c.5196_5212delinsCACCGATATCTACCCCT , LRG_487t1:c.5196_5212delinsCACCGATATCTACCCCT NP_000539.2:p.Pro1732=
NM_001077183.1:c.4995_5011delinsCACCGATATCTACCCCT NP_001070651.1:p.Pro1665=
NM_001114382.1:c.5127_5143delinsCACCGATATCTACCCCT NP_001107854.1:p.Pro1709=
XM_005255529.3:c.5067_5083delinsCACCGATATCTACCCCT XP_005255586.2:p.Pro1689=
XM_005255531.3:c.4998_5014delinsCACCGATATCTACCCCT XP_005255588.2:p.Pro1666=
XM_011522636.1:c.5250_5266delinsCACCGATATCTACCCCT XP_011520938.1:p.Pro1750=
XM_011522637.1:c.5247_5263delinsCACCGATATCTACCCCT XP_011520939.1:p.Pro1749=
XM_011522638.1:c.5139_5155delinsCACCGATATCTACCCCT XP_011520940.1:p.Pro1713=
XM_011522639.1:c.5121_5137delinsCACCGATATCTACCCCT XP_011520941.1:p.Pro1707=
XM_011522640.1:c.5118_5134delinsCACCGATATCTACCCCT XP_011520942.1:p.Pro1706=
XM_011522641.1:c.4887_4903delinsCACCGATATCTACCCCT XP_011520943.1:p.Pro1629=
NM_000548.4:c.5196_5212delinsCACCGATATCTACCCCT NP_000539.2:p.Pro1732=
NM_001077183.2:c.4995_5011delinsCACCGATATCTACCCCT NP_001070651.1:p.Pro1665=
NM_001114382.2:c.5127_5143delinsCACCGATATCTACCCCT NP_001107854.1:p.Pro1709=
NM_001318827.1:c.4887_4903delinsCACCGATATCTACCCCT NP_001305756.1:p.Pro1629=
NM_001318829.1:c.4851_4867delinsCACCGATATCTACCCCT NP_001305758.1:p.Pro1617=
NM_001318831.1:c.4464_4480delinsCACCGATATCTACCCCT NP_001305760.1:p.Pro1488=
NM_001318832.1:c.5028_5044delinsCACCGATATCTACCCCT NP_001305761.1:p.Pro1676=
NM_001363528.1:c.4998_5014delinsCACCGATATCTACCCCT NP_001350457.1:p.Pro1666=
NM_021055.2:c.5067_5083delinsCACCGATATCTACCCCT NP_066399.2:p.Pro1689=
XM_005255531.4:c.4998_5014delinsCACCGATATCTACCCCT XP_005255588.2:p.Pro1666=
XM_011522636.2:c.5250_5266delinsCACCGATATCTACCCCT XP_011520938.1:p.Pro1750=
XM_011522637.2:c.5247_5263delinsCACCGATATCTACCCCT XP_011520939.1:p.Pro1749=
XM_011522638.2:c.5412_5428delinsCACCGATATCTACCCCT XP_011520940.2:p.Pro1804=
XM_011522639.2:c.5121_5137delinsCACCGATATCTACCCCT XP_011520941.1:p.Pro1707=
XM_011522640.2:c.5118_5134delinsCACCGATATCTACCCCT XP_011520942.1:p.Pro1706=
XM_017023615.1:c.5193_5209delinsCACCGATATCTACCCCT XP_016879104.1:p.Pro1731=
XM_017023616.1:c.5064_5080delinsCACCGATATCTACCCCT XP_016879105.1:p.Pro1688=
XM_017023617.1:c.5160_5176delinsCACCGATATCTACCCCT XP_016879106.1:p.Pro1720=
XM_017023618.1:c.3906_3922delinsCACCGATATCTACCCCT XP_016879107.1:p.Pro1302=
XM_024450413.1:c.5082_5098delinsCACCGATATCTACCCCT XP_024306181.1:p.Pro1694=
NM_000548.5:c.5196_5212delinsCACCGATATCTACCCCT MANE Select NP_000539.2:p.Pro1732=
NM_001370404.1:c.5064_5080delinsCACCGATATCTACCCCT NP_001357333.1:p.Pro1688=
NM_001370405.1:c.5055_5071delinsCACCGATATCTACCCCT NP_001357334.1:p.Pro1685=
NM_001077183.3:c.4995_5011delinsCACCGATATCTACCCCT NP_001070651.1:p.Pro1665=
NM_001114382.3:c.5127_5143delinsCACCGATATCTACCCCT NP_001107854.1:p.Pro1709=
NM_001318827.2:c.4887_4903delinsCACCGATATCTACCCCT NP_001305756.1:p.Pro1629=
NM_001318829.2:c.4851_4867delinsCACCGATATCTACCCCT NP_001305758.1:p.Pro1617=
NM_001318831.2:c.4464_4480delinsCACCGATATCTACCCCT NP_001305760.1:p.Pro1488=
NM_001318832.2:c.5028_5044delinsCACCGATATCTACCCCT NP_001305761.1:p.Pro1676=
NM_001363528.2:c.4998_5014delinsCACCGATATCTACCCCT NP_001350457.1:p.Pro1666=
NM_021055.3:c.5067_5083delinsCACCGATATCTACCCCT NP_066399.2:p.Pro1689=