Canonical Allele Identifier: CA492958042

Gene: TSC2

Linked Data

• dbSNP Id: rs768431568
• MyVariant Identifiers: chr16:g.2135260C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085259C>G , CM000678.2:g.2085259C>G	GRCh38
NC_000016.9:g.2135260C>G , CM000678.1:g.2135260C>G	GRCh37
NC_000016.8:g.2075261C>G	NCBI36
NG_005895.1:g.40954C>G , LRG_487:g.40954C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2948C>G	ENSP00000455997.2:n.*2948C>G
ENST00000642206.2:c.4446C>G	ENSP00000495146.2:p.Leu1482=
ENST00000642365.2:c.4596C>G	ENSP00000495459.2:p.Leu1532=
ENST00000644417.2:c.*4979C>G	ENSP00000493912.2:n.*4979C>G
ENST00000646464.2:c.*7348C>G	ENSP00000496610.2:n.*7348C>G
ENST00000219476.9:c.4599C>G MANE Select	ENSP00000219476.3:p.Leu1533=
ENST00000350773.9:c.4530C>G	ENSP00000344383.4:p.Leu1510=
ENST00000401874.7:c.4398C>G	ENSP00000384468.2:p.Leu1466=
ENST00000568454.6:c.4431C>G	ENSP00000454487.1:p.Leu1477=
ENST00000569110.2:c.822C>G
ENST00000569930.2:n.2481C>G
ENST00000642365.1:c.3253C>G
ENST00000642561.1:c.4470C>G	ENSP00000495099.1:p.Leu1490=
ENST00000642728.1:n.781C>G
ENST00000642791.1:n.196C>G
ENST00000642797.1:c.4401C>G	ENSP00000493846.1:p.Leu1467=
ENST00000642936.1:c.4467C>G	ENSP00000494514.1:p.Leu1489=
ENST00000643088.1:c.4392C>G	ENSP00000494747.1:p.Leu1464=
ENST00000643177.1:n.613C>G
ENST00000643426.1:n.2247C>G
ENST00000643946.1:c.4524C>G	ENSP00000495927.1:p.Leu1508=
ENST00000644043.1:c.4470C>G	ENSP00000496262.1:p.Leu1490=
ENST00000644278.1:n.81C>G
ENST00000644329.1:c.4398C>G	ENSP00000496611.1:p.Leu1466=
ENST00000644335.1:c.4395C>G	ENSP00000496317.1:p.Leu1465=
ENST00000644399.1:c.4520C>G
ENST00000645024.1:n.2683C>G
ENST00000646388.1:c.4593C>G	ENSP00000495921.1:p.Leu1531=
ENST00000646634.1:n.3414C>G
ENST00000646674.1:n.1851C>G
ENST00000647042.1:n.1822C>G
ENST00000647180.1:n.1712C>G
ENST00000219476.7:c.4599C>G	ENSP00000219476.3:p.Leu1533=
ENST00000350773.8:c.4530C>G	ENSP00000344383.4:p.Leu1510=
ENST00000382538.10:c.4254C>G	ENSP00000371978.6:p.Leu1418=
ENST00000401874.6:c.4398C>G	ENSP00000384468.2:p.Leu1466=
ENST00000439117.6:c.*3766C>G	ENSP00000406980.2:n.*3766C>G
ENST00000439673.6:c.4290C>G	ENSP00000399232.2:p.Leu1430=
ENST00000497886.5:n.2357C>G
ENST00000568454.5:c.4431C>G	ENSP00000454487.1:p.Leu1477=
ENST00000569110.1:c.781C>G
ENST00000569930.1:n.1714C>G
NM_000548.3:c.4599C>G , LRG_487t1:c.4599C>G	NP_000539.2:p.Leu1533=
NM_001077183.1:c.4398C>G	NP_001070651.1:p.Leu1466=
NM_001114382.1:c.4530C>G	NP_001107854.1:p.Leu1510=
XM_005255529.3:c.4470C>G	XP_005255586.2:p.Leu1490=
XM_005255531.3:c.4401C>G	XP_005255588.2:p.Leu1467=
XM_011522636.1:c.4653C>G	XP_011520938.1:p.Leu1551=
XM_011522637.1:c.4650C>G	XP_011520939.1:p.Leu1550=
XM_011522638.1:c.4542C>G	XP_011520940.1:p.Leu1514=
XM_011522639.1:c.4524C>G	XP_011520941.1:p.Leu1508=
XM_011522640.1:c.4521C>G	XP_011520942.1:p.Leu1507=
XM_011522641.1:c.4290C>G	XP_011520943.1:p.Leu1430=
NM_000548.4:c.4599C>G	NP_000539.2:p.Leu1533=
NM_001077183.2:c.4398C>G	NP_001070651.1:p.Leu1466=
NM_001114382.2:c.4530C>G	NP_001107854.1:p.Leu1510=
NM_001318827.1:c.4290C>G	NP_001305756.1:p.Leu1430=
NM_001318829.1:c.4254C>G	NP_001305758.1:p.Leu1418=
NM_001318831.1:c.3867C>G	NP_001305760.1:p.Leu1289=
NM_001318832.1:c.4431C>G	NP_001305761.1:p.Leu1477=
NM_001363528.1:c.4401C>G	NP_001350457.1:p.Leu1467=
NM_021055.2:c.4470C>G	NP_066399.2:p.Leu1490=
XM_005255531.4:c.4401C>G	XP_005255588.2:p.Leu1467=
XM_011522636.2:c.4653C>G	XP_011520938.1:p.Leu1551=
XM_011522637.2:c.4650C>G	XP_011520939.1:p.Leu1550=
XM_011522638.2:c.4815C>G	XP_011520940.2:p.Leu1605=
XM_011522639.2:c.4524C>G	XP_011520941.1:p.Leu1508=
XM_011522640.2:c.4521C>G	XP_011520942.1:p.Leu1507=
XM_017023615.1:c.4596C>G	XP_016879104.1:p.Leu1532=
XM_017023616.1:c.4467C>G	XP_016879105.1:p.Leu1489=
XM_017023617.1:c.4563C>G	XP_016879106.1:p.Leu1521=
XM_017023618.1:c.3309C>G	XP_016879107.1:p.Leu1103=
XM_024450413.1:c.4398C>G	XP_024306181.1:p.Leu1466=
NM_000548.5:c.4599C>G MANE Select	NP_000539.2:p.Leu1533=
NM_001370404.1:c.4467C>G	NP_001357333.1:p.Leu1489=
NM_001370405.1:c.4470C>G	NP_001357334.1:p.Leu1490=
NM_001077183.3:c.4398C>G	NP_001070651.1:p.Leu1466=
NM_001114382.3:c.4530C>G	NP_001107854.1:p.Leu1510=
NM_001318827.2:c.4290C>G	NP_001305756.1:p.Leu1430=
NM_001318829.2:c.4254C>G	NP_001305758.1:p.Leu1418=
NM_001318831.2:c.3867C>G	NP_001305760.1:p.Leu1289=
NM_001318832.2:c.4431C>G	NP_001305761.1:p.Leu1477=
NM_001363528.2:c.4401C>G	NP_001350457.1:p.Leu1467=
NM_021055.3:c.4470C>G	NP_066399.2:p.Leu1490=