Canonical Allele Identifier: CA493043331

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084638C>T , CM000678.2:g.2084638C>T	GRCh38
NC_000016.9:g.2134639C>T , CM000678.1:g.2134639C>T	GRCh37
NC_000016.8:g.2074640C>T	NCBI36
NG_005895.1:g.40333C>T , LRG_487:g.40333C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4416C>T MANE Select	NP_000539.2:p.Gly1472=
ENST00000219476.9:c.4416C>T MANE Select	ENSP00000219476.3:p.Gly1472=
NM_000548.3:c.4416C>T , LRG_487t1:c.4416C>T	NP_000539.2:p.Gly1472=
NM_000548.4:c.4416C>T	NP_000539.2:p.Gly1472=
NM_001077183.1:c.4215C>T	NP_001070651.1:p.Gly1405=
NM_001077183.2:c.4215C>T	NP_001070651.1:p.Gly1405=
NM_001077183.3:c.4215C>T	NP_001070651.1:p.Gly1405=
NM_001114382.1:c.4347C>T	NP_001107854.1:p.Gly1449=
NM_001114382.2:c.4347C>T	NP_001107854.1:p.Gly1449=
NM_001114382.3:c.4347C>T	NP_001107854.1:p.Gly1449=
NM_001318827.1:c.4107C>T	NP_001305756.1:p.Gly1369=
NM_001318827.2:c.4107C>T	NP_001305756.1:p.Gly1369=
NM_001318829.1:c.4071C>T	NP_001305758.1:p.Gly1357=
NM_001318829.2:c.4071C>T	NP_001305758.1:p.Gly1357=
NM_001318831.1:c.3684C>T	NP_001305760.1:p.Gly1228=
NM_001318831.2:c.3684C>T	NP_001305760.1:p.Gly1228=
NM_001318832.1:c.4248C>T	NP_001305761.1:p.Gly1416=
NM_001318832.2:c.4248C>T	NP_001305761.1:p.Gly1416=
NM_001363528.1:c.4218C>T	NP_001350457.1:p.Gly1406=
NM_001363528.2:c.4218C>T	NP_001350457.1:p.Gly1406=
NM_001370404.1:c.4284C>T	NP_001357333.1:p.Gly1428=
NM_001370405.1:c.4287C>T	NP_001357334.1:p.Gly1429=
NM_021055.2:c.4287C>T	NP_066399.2:p.Gly1429=
NM_021055.3:c.4287C>T	NP_066399.2:p.Gly1429=
ENST00000219476.7:c.4416C>T	ENSP00000219476.3:p.Gly1472=
ENST00000350773.8:c.4347C>T	ENSP00000344383.4:p.Gly1449=
ENST00000350773.9:c.4347C>T	ENSP00000344383.4:p.Gly1449=
ENST00000382538.10:c.4071C>T	ENSP00000371978.6:p.Gly1357=
ENST00000401874.6:c.4215C>T	ENSP00000384468.2:p.Gly1405=
ENST00000401874.7:c.4215C>T	ENSP00000384468.2:p.Gly1405=
ENST00000439117.6:c.*3583C>T	ENSP00000406980.2:n.*3583C>T
ENST00000439673.6:c.4107C>T	ENSP00000399232.2:p.Gly1369=
ENST00000497886.5:n.2174C>T
ENST00000568454.5:c.4248C>T	ENSP00000454487.1:p.Gly1416=
ENST00000568454.6:c.4248C>T	ENSP00000454487.1:p.Gly1416=
ENST00000568566.6:c.*2765C>T	ENSP00000455997.2:n.*2765C>T
ENST00000569110.1:c.598C>T
ENST00000569110.2:c.652C>T
ENST00000569930.1:n.1531C>T
ENST00000569930.2:n.2298C>T
ENST00000642206.2:c.4263C>T	ENSP00000495146.2:p.Gly1421=
ENST00000642365.1:c.3070C>T
ENST00000642365.2:c.4413C>T	ENSP00000495459.2:p.Gly1471=
ENST00000642561.1:c.4287C>T	ENSP00000495099.1:p.Gly1429=
ENST00000642728.1:n.598C>T
ENST00000642797.1:c.4218C>T	ENSP00000493846.1:p.Gly1406=
ENST00000642936.1:c.4284C>T	ENSP00000494514.1:p.Gly1428=
ENST00000643088.1:c.4215C>T	ENSP00000494747.1:p.Gly1405=
ENST00000643177.1:n.430C>T
ENST00000643426.1:n.2064C>T
ENST00000643946.1:c.4347C>T	ENSP00000495927.1:p.Gly1449=
ENST00000644043.1:c.4287C>T	ENSP00000496262.1:p.Gly1429=
ENST00000644329.1:c.4215C>T	ENSP00000496611.1:p.Gly1405=
ENST00000644335.1:c.4218C>T	ENSP00000496317.1:p.Gly1406=
ENST00000644399.1:c.4337C>T
ENST00000644417.2:c.*4796C>T	ENSP00000493912.2:n.*4796C>T
ENST00000645024.1:n.2500C>T
ENST00000646388.1:c.4416C>T	ENSP00000495921.1:p.Gly1472=
ENST00000646464.2:c.*7165C>T	ENSP00000496610.2:n.*7165C>T
ENST00000646634.1:n.3231C>T
ENST00000646674.1:n.1668C>T
ENST00000647042.1:n.1639C>T
ENST00000647180.1:n.1529C>T
XM_005255529.3:c.4287C>T	XP_005255586.2:p.Gly1429=
XM_005255531.3:c.4218C>T	XP_005255588.2:p.Gly1406=
XM_005255531.4:c.4218C>T	XP_005255588.2:p.Gly1406=
XM_011522636.1:c.4470C>T	XP_011520938.1:p.Gly1490=
XM_011522636.2:c.4470C>T	XP_011520938.1:p.Gly1490=
XM_011522637.1:c.4467C>T	XP_011520939.1:p.Gly1489=
XM_011522637.2:c.4467C>T	XP_011520939.1:p.Gly1489=
XM_011522638.1:c.4359C>T	XP_011520940.1:p.Gly1453=
XM_011522638.2:c.4632C>T	XP_011520940.2:p.Gly1544=
XM_011522639.1:c.4341C>T	XP_011520941.1:p.Gly1447=
XM_011522639.2:c.4341C>T	XP_011520941.1:p.Gly1447=
XM_011522640.1:c.4338C>T	XP_011520942.1:p.Gly1446=
XM_011522640.2:c.4338C>T	XP_011520942.1:p.Gly1446=
XM_011522641.1:c.4107C>T	XP_011520943.1:p.Gly1369=
XM_017023615.1:c.4413C>T	XP_016879104.1:p.Gly1471=
XM_017023616.1:c.4284C>T	XP_016879105.1:p.Gly1428=
XM_017023617.1:c.4380C>T	XP_016879106.1:p.Gly1460=
XM_017023618.1:c.3126C>T	XP_016879107.1:p.Gly1042=
XM_024450413.1:c.4215C>T	XP_024306181.1:p.Gly1405=