Canonical Allele Identifier: CA2573151928
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1415761
ClinVar RCV Id: RCV001933242
dbSNP Id: rs2151551613

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085269_2085322dup , CM000678.2:g.2085269_2085322dup GRCh38
NC_000016.9:g.2135270_2135323dup , CM000678.1:g.2135270_2135323dup GRCh37
NC_000016.8:g.2075271_2075324dup NCBI36
NG_005895.1:g.40964_41017dup , LRG_487:g.40964_41017dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2958_*3011dup ENSP00000455997.2:n.*2958_*3011dup
ENST00000642206.2:c.4456_4509dup ENSP00000495146.2:p.Gln1503_Ser1504insIleProSerTyrAspThrHisLy...
ENST00000642365.2:c.4606_4659dup ENSP00000495459.2:p.Gln1553_Ser1554insIleProSerTyrAspThrHisLy...
ENST00000644417.2:c.*4989_*5042dup ENSP00000493912.2:n.*4989_*5042dup
ENST00000646464.2:c.*7358_*7411dup ENSP00000496610.2:n.*7358_*7411dup
ENST00000219476.9:c.4609_4662dup MANE Select ENSP00000219476.3:p.Gln1554_Ser1555insIleProSerTyrAspThrHisLy...
ENST00000350773.9:c.4540_4593dup ENSP00000344383.4:p.Gln1531_Ser1532insIleProSerTyrAspThrHisLy...
ENST00000401874.7:c.4408_4461dup ENSP00000384468.2:p.Gln1487_Ser1488insIleProSerTyrAspThrHisLy...
ENST00000568454.6:c.4441_4494dup ENSP00000454487.1:p.Gln1498_Ser1499insIleProSerTyrAspThrHisLy...
ENST00000569110.2:c.832_885dup
ENST00000569930.2:n.2491_2544dup
ENST00000642365.1:c.3263_3316dup
ENST00000642561.1:c.4480_4533dup ENSP00000495099.1:p.Gln1511_Ser1512insIleProSerTyrAspThrHisLy...
ENST00000642728.1:n.791_844dup
ENST00000642791.1:n.206_259dup
ENST00000642797.1:c.4411_4464dup ENSP00000493846.1:p.Gln1488_Ser1489insIleProSerTyrAspThrHisLy...
ENST00000642936.1:c.4477_4530dup ENSP00000494514.1:p.Gln1510_Ser1511insIleProSerTyrAspThrHisLy...
ENST00000643088.1:c.4402_4455dup ENSP00000494747.1:p.Gln1485_Ser1486insIleProSerTyrAspThrHisLy...
ENST00000643177.1:n.623_676dup
ENST00000643426.1:n.2257_2310dup
ENST00000643946.1:c.4534_4587dup ENSP00000495927.1:p.Gln1529_Ser1530insIleProSerTyrAspThrHisLy...
ENST00000644043.1:c.4480_4533dup ENSP00000496262.1:p.Gln1511_Ser1512insIleProSerTyrAspThrHisLy...
ENST00000644278.1:n.91_144dup
ENST00000644329.1:c.4408_4461dup ENSP00000496611.1:p.Gln1487_Ser1488insIleProSerTyrAspThrHisLy...
ENST00000644335.1:c.4405_4458dup ENSP00000496317.1:p.Gln1486_Ser1487insIleProSerTyrAspThrHisLy...
ENST00000644399.1:c.4530_4583dup
ENST00000645024.1:n.2693_2746dup
ENST00000646388.1:c.4603_4656dup ENSP00000495921.1:p.Gln1552_Ser1553insIleProSerTyrAspThrHisLy...
ENST00000646634.1:n.3424_3477dup
ENST00000646674.1:n.1861_1914dup
ENST00000647042.1:n.1832_1885dup
ENST00000647180.1:n.1722_1775dup
ENST00000219476.7:c.4609_4662dup ENSP00000219476.3:p.Gln1554_Ser1555insIleProSerTyrAspThrHisLy...
ENST00000350773.8:c.4540_4593dup ENSP00000344383.4:p.Gln1531_Ser1532insIleProSerTyrAspThrHisLy...
ENST00000382538.10:c.4264_4317dup ENSP00000371978.6:p.Gln1439_Ser1440insIleProSerTyrAspThrHisLy...
ENST00000401874.6:c.4408_4461dup ENSP00000384468.2:p.Gln1487_Ser1488insIleProSerTyrAspThrHisLy...
ENST00000439117.6:c.*3776_*3829dup ENSP00000406980.2:n.*3776_*3829dup
ENST00000439673.6:c.4300_4353dup ENSP00000399232.2:p.Gln1451_Ser1452insIleProSerTyrAspThrHisLy...
ENST00000497886.5:n.2367_2420dup
ENST00000568454.5:c.4441_4494dup ENSP00000454487.1:p.Gln1498_Ser1499insIleProSerTyrAspThrHisLy...
ENST00000569110.1:c.791_844dup
ENST00000569930.1:n.1724_1777dup
NM_000548.3:c.4609_4662dup , LRG_487t1:c.4609_4662dup NP_000539.2:p.Gln1554_Ser1555insIleProSerTyrAspThrHisLysIleAl...
NM_001077183.1:c.4408_4461dup NP_001070651.1:p.Gln1487_Ser1488insIleProSerTyrAspThrHisLysIl...
NM_001114382.1:c.4540_4593dup NP_001107854.1:p.Gln1531_Ser1532insIleProSerTyrAspThrHisLysIl...
XM_005255529.3:c.4480_4533dup XP_005255586.2:p.Gln1511_Ser1512insIleProSerTyrAspThrHisLysIl...
XM_005255531.3:c.4411_4464dup XP_005255588.2:p.Gln1488_Ser1489insIleProSerTyrAspThrHisLysIl...
XM_011522636.1:c.4663_4716dup XP_011520938.1:p.Gln1572_Ser1573insIleProSerTyrAspThrHisLysIl...
XM_011522637.1:c.4660_4713dup XP_011520939.1:p.Gln1571_Ser1572insIleProSerTyrAspThrHisLysIl...
XM_011522638.1:c.4552_4605dup XP_011520940.1:p.Gln1535_Ser1536insIleProSerTyrAspThrHisLysIl...
XM_011522639.1:c.4534_4587dup XP_011520941.1:p.Gln1529_Ser1530insIleProSerTyrAspThrHisLysIl...
XM_011522640.1:c.4531_4584dup XP_011520942.1:p.Gln1528_Ser1529insIleProSerTyrAspThrHisLysIl...
XM_011522641.1:c.4300_4353dup XP_011520943.1:p.Gln1451_Ser1452insIleProSerTyrAspThrHisLysIl...
NM_000548.4:c.4609_4662dup NP_000539.2:p.Gln1554_Ser1555insIleProSerTyrAspThrHisLysIleAl...
NM_001077183.2:c.4408_4461dup NP_001070651.1:p.Gln1487_Ser1488insIleProSerTyrAspThrHisLysIl...
NM_001114382.2:c.4540_4593dup NP_001107854.1:p.Gln1531_Ser1532insIleProSerTyrAspThrHisLysIl...
NM_001318827.1:c.4300_4353dup NP_001305756.1:p.Gln1451_Ser1452insIleProSerTyrAspThrHisLysIl...
NM_001318829.1:c.4264_4317dup NP_001305758.1:p.Gln1439_Ser1440insIleProSerTyrAspThrHisLysIl...
NM_001318831.1:c.3877_3930dup NP_001305760.1:p.Gln1310_Ser1311insIleProSerTyrAspThrHisLysIl...
NM_001318832.1:c.4441_4494dup NP_001305761.1:p.Gln1498_Ser1499insIleProSerTyrAspThrHisLysIl...
NM_001363528.1:c.4411_4464dup NP_001350457.1:p.Gln1488_Ser1489insIleProSerTyrAspThrHisLysIl...
NM_021055.2:c.4480_4533dup NP_066399.2:p.Gln1511_Ser1512insIleProSerTyrAspThrHisLysIleAl...
XM_005255531.4:c.4411_4464dup XP_005255588.2:p.Gln1488_Ser1489insIleProSerTyrAspThrHisLysIl...
XM_011522636.2:c.4663_4716dup XP_011520938.1:p.Gln1572_Ser1573insIleProSerTyrAspThrHisLysIl...
XM_011522637.2:c.4660_4713dup XP_011520939.1:p.Gln1571_Ser1572insIleProSerTyrAspThrHisLysIl...
XM_011522638.2:c.4825_4878dup XP_011520940.2:p.Gln1626_Ser1627insIleProSerTyrAspThrHisLysIl...
XM_011522639.2:c.4534_4587dup XP_011520941.1:p.Gln1529_Ser1530insIleProSerTyrAspThrHisLysIl...
XM_011522640.2:c.4531_4584dup XP_011520942.1:p.Gln1528_Ser1529insIleProSerTyrAspThrHisLysIl...
XM_017023615.1:c.4606_4659dup XP_016879104.1:p.Gln1553_Ser1554insIleProSerTyrAspThrHisLysIl...
XM_017023616.1:c.4477_4530dup XP_016879105.1:p.Gln1510_Ser1511insIleProSerTyrAspThrHisLysIl...
XM_017023617.1:c.4573_4626dup XP_016879106.1:p.Gln1542_Ser1543insIleProSerTyrAspThrHisLysIl...
XM_017023618.1:c.3319_3372dup XP_016879107.1:p.Gln1124_Ser1125insIleProSerTyrAspThrHisLysIl...
XM_024450413.1:c.4408_4461dup XP_024306181.1:p.Gln1487_Ser1488insIleProSerTyrAspThrHisLysIl...
NM_000548.5:c.4609_4662dup MANE Select NP_000539.2:p.Gln1554_Ser1555insIleProSerTyrAspThrHisLysIleAl...
NM_001370404.1:c.4477_4530dup NP_001357333.1:p.Gln1510_Ser1511insIleProSerTyrAspThrHisLysIl...
NM_001370405.1:c.4480_4533dup NP_001357334.1:p.Gln1511_Ser1512insIleProSerTyrAspThrHisLysIl...
NM_001077183.3:c.4408_4461dup NP_001070651.1:p.Gln1487_Ser1488insIleProSerTyrAspThrHisLysIl...
NM_001114382.3:c.4540_4593dup NP_001107854.1:p.Gln1531_Ser1532insIleProSerTyrAspThrHisLysIl...
NM_001318827.2:c.4300_4353dup NP_001305756.1:p.Gln1451_Ser1452insIleProSerTyrAspThrHisLysIl...
NM_001318829.2:c.4264_4317dup NP_001305758.1:p.Gln1439_Ser1440insIleProSerTyrAspThrHisLysIl...
NM_001318831.2:c.3877_3930dup NP_001305760.1:p.Gln1310_Ser1311insIleProSerTyrAspThrHisLysIl...
NM_001318832.2:c.4441_4494dup NP_001305761.1:p.Gln1498_Ser1499insIleProSerTyrAspThrHisLysIl...
NM_001363528.2:c.4411_4464dup NP_001350457.1:p.Gln1488_Ser1489insIleProSerTyrAspThrHisLysIl...
NM_021055.3:c.4480_4533dup NP_066399.2:p.Gln1511_Ser1512insIleProSerTyrAspThrHisLysIleAl...