Canonical Allele Identifier: CA394304631
Gene: TSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085264A>G , CM000678.2:g.2085264A>G GRCh38
NC_000016.9:g.2135265A>G , CM000678.1:g.2135265A>G GRCh37
NC_000016.8:g.2075266A>G NCBI36
NG_005895.1:g.40959A>G , LRG_487:g.40959A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2953A>G ENSP00000455997.2:n.*2953A>G
ENST00000642206.2:c.4451A>G ENSP00000495146.2:p.Asp1484Gly
ENST00000642365.2:c.4601A>G ENSP00000495459.2:p.Asp1534Gly
ENST00000644417.2:c.*4984A>G ENSP00000493912.2:n.*4984A>G
ENST00000646464.2:c.*7353A>G ENSP00000496610.2:n.*7353A>G
ENST00000219476.9:c.4604A>G MANE Select ENSP00000219476.3:p.Asp1535Gly
ENST00000350773.9:c.4535A>G ENSP00000344383.4:p.Asp1512Gly
ENST00000401874.7:c.4403A>G ENSP00000384468.2:p.Asp1468Gly
ENST00000568454.6:c.4436A>G ENSP00000454487.1:p.Asp1479Gly
ENST00000569110.2:c.827A>G
ENST00000569930.2:n.2486A>G
ENST00000642365.1:c.3258A>G
ENST00000642561.1:c.4475A>G ENSP00000495099.1:p.Asp1492Gly
ENST00000642728.1:n.786A>G
ENST00000642791.1:n.201A>G
ENST00000642797.1:c.4406A>G ENSP00000493846.1:p.Asp1469Gly
ENST00000642936.1:c.4472A>G ENSP00000494514.1:p.Asp1491Gly
ENST00000643088.1:c.4397A>G ENSP00000494747.1:p.Asp1466Gly
ENST00000643177.1:n.618A>G
ENST00000643426.1:n.2252A>G
ENST00000643946.1:c.4529A>G ENSP00000495927.1:p.Asp1510Gly
ENST00000644043.1:c.4475A>G ENSP00000496262.1:p.Asp1492Gly
ENST00000644278.1:n.86A>G
ENST00000644329.1:c.4403A>G ENSP00000496611.1:p.Asp1468Gly
ENST00000644335.1:c.4400A>G ENSP00000496317.1:p.Asp1467Gly
ENST00000644399.1:c.4525A>G
ENST00000645024.1:n.2688A>G
ENST00000646388.1:c.4598A>G ENSP00000495921.1:p.Asp1533Gly
ENST00000646634.1:n.3419A>G
ENST00000646674.1:n.1856A>G
ENST00000647042.1:n.1827A>G
ENST00000647180.1:n.1717A>G
ENST00000219476.7:c.4604A>G ENSP00000219476.3:p.Asp1535Gly
ENST00000350773.8:c.4535A>G ENSP00000344383.4:p.Asp1512Gly
ENST00000382538.10:c.4259A>G ENSP00000371978.6:p.Asp1420Gly
ENST00000401874.6:c.4403A>G ENSP00000384468.2:p.Asp1468Gly
ENST00000439117.6:c.*3771A>G ENSP00000406980.2:n.*3771A>G
ENST00000439673.6:c.4295A>G ENSP00000399232.2:p.Asp1432Gly
ENST00000497886.5:n.2362A>G
ENST00000568454.5:c.4436A>G ENSP00000454487.1:p.Asp1479Gly
ENST00000569110.1:c.786A>G
ENST00000569930.1:n.1719A>G
NM_000548.3:c.4604A>G , LRG_487t1:c.4604A>G NP_000539.2:p.Asp1535Gly
NM_001077183.1:c.4403A>G NP_001070651.1:p.Asp1468Gly
NM_001114382.1:c.4535A>G NP_001107854.1:p.Asp1512Gly
XM_005255529.3:c.4475A>G XP_005255586.2:p.Asp1492Gly
XM_005255531.3:c.4406A>G XP_005255588.2:p.Asp1469Gly
XM_011522636.1:c.4658A>G XP_011520938.1:p.Asp1553Gly
XM_011522637.1:c.4655A>G XP_011520939.1:p.Asp1552Gly
XM_011522638.1:c.4547A>G XP_011520940.1:p.Asp1516Gly
XM_011522639.1:c.4529A>G XP_011520941.1:p.Asp1510Gly
XM_011522640.1:c.4526A>G XP_011520942.1:p.Asp1509Gly
XM_011522641.1:c.4295A>G XP_011520943.1:p.Asp1432Gly
NM_000548.4:c.4604A>G NP_000539.2:p.Asp1535Gly
NM_001077183.2:c.4403A>G NP_001070651.1:p.Asp1468Gly
NM_001114382.2:c.4535A>G NP_001107854.1:p.Asp1512Gly
NM_001318827.1:c.4295A>G NP_001305756.1:p.Asp1432Gly
NM_001318829.1:c.4259A>G NP_001305758.1:p.Asp1420Gly
NM_001318831.1:c.3872A>G NP_001305760.1:p.Asp1291Gly
NM_001318832.1:c.4436A>G NP_001305761.1:p.Asp1479Gly
NM_001363528.1:c.4406A>G NP_001350457.1:p.Asp1469Gly
NM_021055.2:c.4475A>G NP_066399.2:p.Asp1492Gly
XM_005255531.4:c.4406A>G XP_005255588.2:p.Asp1469Gly
XM_011522636.2:c.4658A>G XP_011520938.1:p.Asp1553Gly
XM_011522637.2:c.4655A>G XP_011520939.1:p.Asp1552Gly
XM_011522638.2:c.4820A>G XP_011520940.2:p.Asp1607Gly
XM_011522639.2:c.4529A>G XP_011520941.1:p.Asp1510Gly
XM_011522640.2:c.4526A>G XP_011520942.1:p.Asp1509Gly
XM_017023615.1:c.4601A>G XP_016879104.1:p.Asp1534Gly
XM_017023616.1:c.4472A>G XP_016879105.1:p.Asp1491Gly
XM_017023617.1:c.4568A>G XP_016879106.1:p.Asp1523Gly
XM_017023618.1:c.3314A>G XP_016879107.1:p.Asp1105Gly
XM_024450413.1:c.4403A>G XP_024306181.1:p.Asp1468Gly
NM_000548.5:c.4604A>G MANE Select NP_000539.2:p.Asp1535Gly
NM_001370404.1:c.4472A>G NP_001357333.1:p.Asp1491Gly
NM_001370405.1:c.4475A>G NP_001357334.1:p.Asp1492Gly
NM_001077183.3:c.4403A>G NP_001070651.1:p.Asp1468Gly
NM_001114382.3:c.4535A>G NP_001107854.1:p.Asp1512Gly
NM_001318827.2:c.4295A>G NP_001305756.1:p.Asp1432Gly
NM_001318829.2:c.4259A>G NP_001305758.1:p.Asp1420Gly
NM_001318831.2:c.3872A>G NP_001305760.1:p.Asp1291Gly
NM_001318832.2:c.4436A>G NP_001305761.1:p.Asp1479Gly
NM_001363528.2:c.4406A>G NP_001350457.1:p.Asp1469Gly
NM_021055.3:c.4475A>G NP_066399.2:p.Asp1492Gly