Canonical Allele Identifier: CA2837995381

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088585dup , CM000678.2:g.2088585dup	GRCh38
NC_000016.9:g.2138586dup , CM000678.1:g.2138586dup	GRCh37
NC_000016.8:g.2078587dup	NCBI36
NG_005895.1:g.44280dup , LRG_487:g.44280dup
NG_008617.1:g.54636dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3748dup	ENSP00000455997.2:n.*3748dup
ENST00000642206.2:c.5246dup	ENSP00000495146.2:p.Glu1750GlyfsTer?
ENST00000642365.2:c.5396dup	ENSP00000495459.2:p.Glu1800GlyfsTer?
ENST00000644417.2:c.*5912dup	ENSP00000493912.2:n.*5912dup
ENST00000646464.2:c.*8148dup	ENSP00000496610.2:n.*8148dup
ENST00000219476.9:c.5399dup MANE Select	ENSP00000219476.3:p.Glu1801GlyfsTer?
ENST00000350773.9:c.5330dup	ENSP00000344383.4:p.Glu1778GlyfsTer?
ENST00000401874.7:c.5198dup	ENSP00000384468.2:p.Glu1734GlyfsTer?
ENST00000568454.6:c.5231dup	ENSP00000454487.1:p.Glu1745GlyfsTer?
ENST00000569110.2:c.1622dup
ENST00000569930.2:n.3281dup
ENST00000642365.1:c.4053dup
ENST00000642561.1:c.5258dup	ENSP00000495099.1:p.Glu1754GlyfsTer?
ENST00000642791.1:n.996dup
ENST00000642797.1:c.5201dup	ENSP00000493846.1:p.Glu1735GlyfsTer?
ENST00000642936.1:c.5267dup	ENSP00000494514.1:p.Glu1757GlyfsTer?
ENST00000643088.1:c.5192dup	ENSP00000494747.1:p.Glu1732GlyfsTer?
ENST00000643426.1:n.3047dup
ENST00000643946.1:c.5324dup	ENSP00000495927.1:p.Glu1776GlyfsTer?
ENST00000644043.1:c.5270dup	ENSP00000496262.1:p.Glu1758GlyfsTer?
ENST00000644329.1:c.5285dup	ENSP00000496611.1:p.Glu1763GlyfsTer?
ENST00000644335.1:c.5195dup	ENSP00000496317.1:p.Glu1733GlyfsTer?
ENST00000644399.1:c.5320dup
ENST00000646388.1:c.5393dup	ENSP00000495921.1:p.Glu1799GlyfsTer?
ENST00000646634.1:n.4214dup
ENST00000646674.1:n.2651dup
ENST00000647042.1:n.2622dup
ENST00000647180.1:n.2512dup
ENST00000219476.7:c.5399dup	ENSP00000219476.3:p.Glu1801GlyfsTer?
ENST00000350773.8:c.5330dup	ENSP00000344383.4:p.Glu1778GlyfsTer?
ENST00000382538.10:c.5054dup	ENSP00000371978.6:p.Glu1686GlyfsTer?
ENST00000401874.6:c.5198dup	ENSP00000384468.2:p.Glu1734GlyfsTer?
ENST00000439117.6:c.*4566dup	ENSP00000406980.2:n.*4566dup
ENST00000439673.6:c.5090dup	ENSP00000399232.2:p.Glu1698GlyfsTer?
ENST00000497886.5:n.3122dup
ENST00000568454.5:c.5231dup	ENSP00000454487.1:p.Glu1745GlyfsTer?
ENST00000569110.1:c.1581dup
ENST00000569930.1:n.2514dup
NM_000548.3:c.5399dup , LRG_487t1:c.5399dup	NP_000539.2:p.Glu1801GlyfsTer?
NM_001077183.1:c.5198dup	NP_001070651.1:p.Glu1734GlyfsTer?
NM_001114382.1:c.5330dup	NP_001107854.1:p.Glu1778GlyfsTer?
XM_005255529.3:c.5270dup	XP_005255586.2:p.Glu1758GlyfsTer?
XM_005255531.3:c.5201dup	XP_005255588.2:p.Glu1735GlyfsTer?
XM_011522636.1:c.5453dup	XP_011520938.1:p.Glu1819GlyfsTer?
XM_011522637.1:c.5450dup	XP_011520939.1:p.Glu1818GlyfsTer?
XM_011522638.1:c.5342dup	XP_011520940.1:p.Glu1782GlyfsTer?
XM_011522639.1:c.5324dup	XP_011520941.1:p.Glu1776GlyfsTer?
XM_011522640.1:c.5321dup	XP_011520942.1:p.Glu1775GlyfsTer?
XM_011522641.1:c.5090dup	XP_011520943.1:p.Glu1698GlyfsTer?
NM_000548.4:c.5399dup	NP_000539.2:p.Glu1801GlyfsTer?
NM_001077183.2:c.5198dup	NP_001070651.1:p.Glu1734GlyfsTer?
NM_001114382.2:c.5330dup	NP_001107854.1:p.Glu1778GlyfsTer?
NM_001318827.1:c.5090dup	NP_001305756.1:p.Glu1698GlyfsTer?
NM_001318829.1:c.5054dup	NP_001305758.1:p.Glu1686GlyfsTer?
NM_001318831.1:c.4667dup	NP_001305760.1:p.Glu1557GlyfsTer?
NM_001318832.1:c.5231dup	NP_001305761.1:p.Glu1745GlyfsTer?
NM_001363528.1:c.5201dup	NP_001350457.1:p.Glu1735GlyfsTer?
NM_021055.2:c.5270dup	NP_066399.2:p.Glu1758GlyfsTer?
XM_005255531.4:c.5201dup	XP_005255588.2:p.Glu1735GlyfsTer?
XM_011522636.2:c.5453dup	XP_011520938.1:p.Glu1819GlyfsTer?
XM_011522637.2:c.5450dup	XP_011520939.1:p.Glu1818GlyfsTer?
XM_011522638.2:c.5615dup	XP_011520940.2:p.Glu1873GlyfsTer?
XM_011522639.2:c.5324dup	XP_011520941.1:p.Glu1776GlyfsTer?
XM_011522640.2:c.5321dup	XP_011520942.1:p.Glu1775GlyfsTer?
XM_017023615.1:c.5396dup	XP_016879104.1:p.Glu1800GlyfsTer?
XM_017023616.1:c.5267dup	XP_016879105.1:p.Glu1757GlyfsTer?
XM_017023617.1:c.5363dup	XP_016879106.1:p.Glu1789GlyfsTer?
XM_017023618.1:c.4109dup	XP_016879107.1:p.Glu1371GlyfsTer?
XM_024450413.1:c.5285dup	XP_024306181.1:p.Glu1763GlyfsTer?
NM_000548.5:c.5399dup MANE Select	NP_000539.2:p.Glu1801GlyfsTer?
NM_001370404.1:c.5267dup	NP_001357333.1:p.Glu1757GlyfsTer?
NM_001370405.1:c.5258dup	NP_001357334.1:p.Glu1754GlyfsTer?
NM_001077183.3:c.5198dup	NP_001070651.1:p.Glu1734GlyfsTer?
NM_001114382.3:c.5330dup	NP_001107854.1:p.Glu1778GlyfsTer?
NM_001318827.2:c.5090dup	NP_001305756.1:p.Glu1698GlyfsTer?
NM_001318829.2:c.5054dup	NP_001305758.1:p.Glu1686GlyfsTer?
NM_001318831.2:c.4667dup	NP_001305760.1:p.Glu1557GlyfsTer?
NM_001318832.2:c.5231dup	NP_001305761.1:p.Glu1745GlyfsTer?
NM_001363528.2:c.5201dup	NP_001350457.1:p.Glu1735GlyfsTer?
NM_021055.3:c.5270dup	NP_066399.2:p.Glu1758GlyfsTer?