Canonical Allele Identifier: CA493043795

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088574C>T , CM000678.2:g.2088574C>T	GRCh38
NC_000016.9:g.2138575C>T , CM000678.1:g.2138575C>T	GRCh37
NC_000016.8:g.2078576C>T	NCBI36
NG_005895.1:g.44269C>T , LRG_487:g.44269C>T
NG_008617.1:g.54647G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.5388C>T MANE Select	NP_000539.2:p.Leu1796=
ENST00000219476.9:c.5388C>T MANE Select	ENSP00000219476.3:p.Leu1796=
NM_000548.3:c.5388C>T , LRG_487t1:c.5388C>T	NP_000539.2:p.Leu1796=
NM_000548.4:c.5388C>T	NP_000539.2:p.Leu1796=
NM_001077183.1:c.5187C>T	NP_001070651.1:p.Leu1729=
NM_001077183.2:c.5187C>T	NP_001070651.1:p.Leu1729=
NM_001077183.3:c.5187C>T	NP_001070651.1:p.Leu1729=
NM_001114382.1:c.5319C>T	NP_001107854.1:p.Leu1773=
NM_001114382.2:c.5319C>T	NP_001107854.1:p.Leu1773=
NM_001114382.3:c.5319C>T	NP_001107854.1:p.Leu1773=
NM_001318827.1:c.5079C>T	NP_001305756.1:p.Leu1693=
NM_001318827.2:c.5079C>T	NP_001305756.1:p.Leu1693=
NM_001318829.1:c.5043C>T	NP_001305758.1:p.Leu1681=
NM_001318829.2:c.5043C>T	NP_001305758.1:p.Leu1681=
NM_001318831.1:c.4656C>T	NP_001305760.1:p.Leu1552=
NM_001318831.2:c.4656C>T	NP_001305760.1:p.Leu1552=
NM_001318832.1:c.5220C>T	NP_001305761.1:p.Leu1740=
NM_001318832.2:c.5220C>T	NP_001305761.1:p.Leu1740=
NM_001363528.1:c.5190C>T	NP_001350457.1:p.Leu1730=
NM_001363528.2:c.5190C>T	NP_001350457.1:p.Leu1730=
NM_001370404.1:c.5256C>T	NP_001357333.1:p.Leu1752=
NM_001370405.1:c.5247C>T	NP_001357334.1:p.Leu1749=
NM_021055.2:c.5259C>T	NP_066399.2:p.Leu1753=
NM_021055.3:c.5259C>T	NP_066399.2:p.Leu1753=
ENST00000219476.7:c.5388C>T	ENSP00000219476.3:p.Leu1796=
ENST00000350773.8:c.5319C>T	ENSP00000344383.4:p.Leu1773=
ENST00000350773.9:c.5319C>T	ENSP00000344383.4:p.Leu1773=
ENST00000382538.10:c.5043C>T	ENSP00000371978.6:p.Leu1681=
ENST00000401874.6:c.5187C>T	ENSP00000384468.2:p.Leu1729=
ENST00000401874.7:c.5187C>T	ENSP00000384468.2:p.Leu1729=
ENST00000439117.6:c.*4555C>T	ENSP00000406980.2:n.*4555C>T
ENST00000439673.6:c.5079C>T	ENSP00000399232.2:p.Leu1693=
ENST00000497886.5:n.3111C>T
ENST00000568454.5:c.5220C>T	ENSP00000454487.1:p.Leu1740=
ENST00000568454.6:c.5220C>T	ENSP00000454487.1:p.Leu1740=
ENST00000568566.6:c.*3737C>T	ENSP00000455997.2:n.*3737C>T
ENST00000569110.1:c.1570C>T
ENST00000569110.2:c.1611C>T
ENST00000569930.1:n.2503C>T
ENST00000569930.2:n.3270C>T
ENST00000642206.2:c.5235C>T	ENSP00000495146.2:p.Leu1745=
ENST00000642365.1:c.4042C>T
ENST00000642365.2:c.5385C>T	ENSP00000495459.2:p.Leu1795=
ENST00000642561.1:c.5247C>T	ENSP00000495099.1:p.Leu1749=
ENST00000642791.1:n.985C>T
ENST00000642797.1:c.5190C>T	ENSP00000493846.1:p.Leu1730=
ENST00000642936.1:c.5256C>T	ENSP00000494514.1:p.Leu1752=
ENST00000643088.1:c.5181C>T	ENSP00000494747.1:p.Leu1727=
ENST00000643426.1:n.3036C>T
ENST00000643946.1:c.5313C>T	ENSP00000495927.1:p.Leu1771=
ENST00000644043.1:c.5259C>T	ENSP00000496262.1:p.Leu1753=
ENST00000644329.1:c.5274C>T	ENSP00000496611.1:p.Leu1758=
ENST00000644335.1:c.5184C>T	ENSP00000496317.1:p.Leu1728=
ENST00000644399.1:c.5309C>T
ENST00000644417.2:c.*5901C>T	ENSP00000493912.2:n.*5901C>T
ENST00000645024.1:n.3472C>T
ENST00000646388.1:c.5382C>T	ENSP00000495921.1:p.Leu1794=
ENST00000646464.2:c.*8137C>T	ENSP00000496610.2:n.*8137C>T
ENST00000646634.1:n.4203C>T
ENST00000646674.1:n.2640C>T
ENST00000647042.1:n.2611C>T
ENST00000647180.1:n.2501C>T
XM_005255529.3:c.5259C>T	XP_005255586.2:p.Leu1753=
XM_005255531.3:c.5190C>T	XP_005255588.2:p.Leu1730=
XM_005255531.4:c.5190C>T	XP_005255588.2:p.Leu1730=
XM_011522636.1:c.5442C>T	XP_011520938.1:p.Leu1814=
XM_011522636.2:c.5442C>T	XP_011520938.1:p.Leu1814=
XM_011522637.1:c.5439C>T	XP_011520939.1:p.Leu1813=
XM_011522637.2:c.5439C>T	XP_011520939.1:p.Leu1813=
XM_011522638.1:c.5331C>T	XP_011520940.1:p.Leu1777=
XM_011522638.2:c.5604C>T	XP_011520940.2:p.Leu1868=
XM_011522639.1:c.5313C>T	XP_011520941.1:p.Leu1771=
XM_011522639.2:c.5313C>T	XP_011520941.1:p.Leu1771=
XM_011522640.1:c.5310C>T	XP_011520942.1:p.Leu1770=
XM_011522640.2:c.5310C>T	XP_011520942.1:p.Leu1770=
XM_011522641.1:c.5079C>T	XP_011520943.1:p.Leu1693=
XM_017023615.1:c.5385C>T	XP_016879104.1:p.Leu1795=
XM_017023616.1:c.5256C>T	XP_016879105.1:p.Leu1752=
XM_017023617.1:c.5352C>T	XP_016879106.1:p.Leu1784=
XM_017023618.1:c.4098C>T	XP_016879107.1:p.Leu1366=
XM_024450413.1:c.5274C>T	XP_024306181.1:p.Leu1758=