Canonical Allele Identifier: CA493043546

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086280C>T , CM000678.2:g.2086280C>T	GRCh38
NC_000016.9:g.2136281C>T , CM000678.1:g.2136281C>T	GRCh37
NC_000016.8:g.2076282C>T	NCBI36
NG_005895.1:g.41975C>T , LRG_487:g.41975C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.4750C>T MANE Select	NP_000539.2:p.Leu1584=
ENST00000219476.9:c.4750C>T MANE Select	ENSP00000219476.3:p.Leu1584=
NM_000548.3:c.4750C>T , LRG_487t1:c.4750C>T	NP_000539.2:p.Leu1584=
NM_000548.4:c.4750C>T	NP_000539.2:p.Leu1584=
NM_001077183.1:c.4549C>T	NP_001070651.1:p.Leu1517=
NM_001077183.2:c.4549C>T	NP_001070651.1:p.Leu1517=
NM_001077183.3:c.4549C>T	NP_001070651.1:p.Leu1517=
NM_001114382.1:c.4681C>T	NP_001107854.1:p.Leu1561=
NM_001114382.2:c.4681C>T	NP_001107854.1:p.Leu1561=
NM_001114382.3:c.4681C>T	NP_001107854.1:p.Leu1561=
NM_001318827.1:c.4441C>T	NP_001305756.1:p.Leu1481=
NM_001318827.2:c.4441C>T	NP_001305756.1:p.Leu1481=
NM_001318829.1:c.4405C>T	NP_001305758.1:p.Leu1469=
NM_001318829.2:c.4405C>T	NP_001305758.1:p.Leu1469=
NM_001318831.1:c.4018C>T	NP_001305760.1:p.Leu1340=
NM_001318831.2:c.4018C>T	NP_001305760.1:p.Leu1340=
NM_001318832.1:c.4582C>T	NP_001305761.1:p.Leu1528=
NM_001318832.2:c.4582C>T	NP_001305761.1:p.Leu1528=
NM_001363528.1:c.4552C>T	NP_001350457.1:p.Leu1518=
NM_001363528.2:c.4552C>T	NP_001350457.1:p.Leu1518=
NM_001370404.1:c.4618C>T	NP_001357333.1:p.Leu1540=
NM_001370405.1:c.4621C>T	NP_001357334.1:p.Leu1541=
NM_021055.2:c.4621C>T	NP_066399.2:p.Leu1541=
NM_021055.3:c.4621C>T	NP_066399.2:p.Leu1541=
ENST00000219476.7:c.4750C>T	ENSP00000219476.3:p.Leu1584=
ENST00000350773.8:c.4681C>T	ENSP00000344383.4:p.Leu1561=
ENST00000350773.9:c.4681C>T	ENSP00000344383.4:p.Leu1561=
ENST00000382538.10:c.4405C>T	ENSP00000371978.6:p.Leu1469=
ENST00000401874.6:c.4549C>T	ENSP00000384468.2:p.Leu1517=
ENST00000401874.7:c.4549C>T	ENSP00000384468.2:p.Leu1517=
ENST00000439117.6:c.*3917C>T	ENSP00000406980.2:n.*3917C>T
ENST00000439673.6:c.4441C>T	ENSP00000399232.2:p.Leu1481=
ENST00000497886.5:n.2508C>T
ENST00000568454.5:c.4582C>T	ENSP00000454487.1:p.Leu1528=
ENST00000568454.6:c.4582C>T	ENSP00000454487.1:p.Leu1528=
ENST00000568566.6:c.*3099C>T	ENSP00000455997.2:n.*3099C>T
ENST00000569110.1:c.932C>T
ENST00000569110.2:c.973C>T
ENST00000569930.1:n.1865C>T
ENST00000569930.2:n.2632C>T
ENST00000642206.2:c.4597C>T	ENSP00000495146.2:p.Leu1533=
ENST00000642365.1:c.3404C>T
ENST00000642365.2:c.4747C>T	ENSP00000495459.2:p.Leu1583=
ENST00000642561.1:c.4621C>T	ENSP00000495099.1:p.Leu1541=
ENST00000642728.1:n.932C>T
ENST00000642791.1:n.347C>T
ENST00000642797.1:c.4552C>T	ENSP00000493846.1:p.Leu1518=
ENST00000642936.1:c.4618C>T	ENSP00000494514.1:p.Leu1540=
ENST00000643088.1:c.4543C>T	ENSP00000494747.1:p.Leu1515=
ENST00000643177.1:n.764C>T
ENST00000643426.1:n.2398C>T
ENST00000643946.1:c.4675C>T	ENSP00000495927.1:p.Leu1559=
ENST00000644043.1:c.4621C>T	ENSP00000496262.1:p.Leu1541=
ENST00000644278.1:n.232C>T
ENST00000644329.1:c.4549C>T	ENSP00000496611.1:p.Leu1517=
ENST00000644335.1:c.4546C>T	ENSP00000496317.1:p.Leu1516=
ENST00000644399.1:c.4671C>T
ENST00000644417.2:c.*5263C>T	ENSP00000493912.2:n.*5263C>T
ENST00000645024.1:n.2834C>T
ENST00000646388.1:c.4744C>T	ENSP00000495921.1:p.Leu1582=
ENST00000646464.2:c.*7499C>T	ENSP00000496610.2:n.*7499C>T
ENST00000646634.1:n.3565C>T
ENST00000646674.1:n.2002C>T
ENST00000647042.1:n.1973C>T
ENST00000647180.1:n.1863C>T
XM_005255529.3:c.4621C>T	XP_005255586.2:p.Leu1541=
XM_005255531.3:c.4552C>T	XP_005255588.2:p.Leu1518=
XM_005255531.4:c.4552C>T	XP_005255588.2:p.Leu1518=
XM_011522636.1:c.4804C>T	XP_011520938.1:p.Leu1602=
XM_011522636.2:c.4804C>T	XP_011520938.1:p.Leu1602=
XM_011522637.1:c.4801C>T	XP_011520939.1:p.Leu1601=
XM_011522637.2:c.4801C>T	XP_011520939.1:p.Leu1601=
XM_011522638.1:c.4693C>T	XP_011520940.1:p.Leu1565=
XM_011522638.2:c.4966C>T	XP_011520940.2:p.Leu1656=
XM_011522639.1:c.4675C>T	XP_011520941.1:p.Leu1559=
XM_011522639.2:c.4675C>T	XP_011520941.1:p.Leu1559=
XM_011522640.1:c.4672C>T	XP_011520942.1:p.Leu1558=
XM_011522640.2:c.4672C>T	XP_011520942.1:p.Leu1558=
XM_011522641.1:c.4441C>T	XP_011520943.1:p.Leu1481=
XM_017023615.1:c.4747C>T	XP_016879104.1:p.Leu1583=
XM_017023616.1:c.4618C>T	XP_016879105.1:p.Leu1540=
XM_017023617.1:c.4714C>T	XP_016879106.1:p.Leu1572=
XM_017023618.1:c.3460C>T	XP_016879107.1:p.Leu1154=
XM_024450413.1:c.4549C>T	XP_024306181.1:p.Leu1517=