Canonical Allele Identifier: CA394315116

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2138457A>T (hg19) ; chr16:g.2088456A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088456A>T , CM000678.2:g.2088456A>T	GRCh38
NC_000016.9:g.2138457A>T , CM000678.1:g.2138457A>T	GRCh37
NC_000016.8:g.2078458A>T	NCBI36
NG_005895.1:g.44151A>T , LRG_487:g.44151A>T
NG_008617.1:g.54765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3619A>T	ENSP00000455997.2:n.*3619A>T
ENST00000642206.2:c.5117A>T	ENSP00000495146.2:p.Glu1706Val
ENST00000642365.2:c.5267A>T	ENSP00000495459.2:p.Glu1756Val
ENST00000644417.2:c.*5783A>T	ENSP00000493912.2:n.*5783A>T
ENST00000646464.2:c.*8019A>T	ENSP00000496610.2:n.*8019A>T
ENST00000219476.9:c.5270A>T MANE Select	ENSP00000219476.3:p.Glu1757Val
ENST00000350773.9:c.5201A>T	ENSP00000344383.4:p.Glu1734Val
ENST00000401874.7:c.5069A>T	ENSP00000384468.2:p.Glu1690Val
ENST00000568454.6:c.5102A>T	ENSP00000454487.1:p.Glu1701Val
ENST00000569110.2:c.1493A>T
ENST00000569930.2:n.3152A>T
ENST00000642365.1:c.3924A>T
ENST00000642561.1:c.5129A>T	ENSP00000495099.1:p.Glu1710Val
ENST00000642791.1:n.867A>T
ENST00000642797.1:c.5072A>T	ENSP00000493846.1:p.Glu1691Val
ENST00000642936.1:c.5138A>T	ENSP00000494514.1:p.Glu1713Val
ENST00000643088.1:c.5063A>T	ENSP00000494747.1:p.Glu1688Val
ENST00000643426.1:n.2918A>T
ENST00000643946.1:c.5195A>T	ENSP00000495927.1:p.Glu1732Val
ENST00000644043.1:c.5141A>T	ENSP00000496262.1:p.Glu1714Val
ENST00000644329.1:c.5156A>T	ENSP00000496611.1:p.Glu1719Val
ENST00000644335.1:c.5066A>T	ENSP00000496317.1:p.Glu1689Val
ENST00000644399.1:c.5191A>T
ENST00000645024.1:n.3354A>T
ENST00000646388.1:c.5264A>T	ENSP00000495921.1:p.Glu1755Val
ENST00000646634.1:n.4085A>T
ENST00000646674.1:n.2522A>T
ENST00000647042.1:n.2493A>T
ENST00000647180.1:n.2383A>T
ENST00000219476.7:c.5270A>T	ENSP00000219476.3:p.Glu1757Val
ENST00000350773.8:c.5201A>T	ENSP00000344383.4:p.Glu1734Val
ENST00000382538.10:c.4925A>T	ENSP00000371978.6:p.Glu1642Val
ENST00000401874.6:c.5069A>T	ENSP00000384468.2:p.Glu1690Val
ENST00000439117.6:c.*4437A>T	ENSP00000406980.2:n.*4437A>T
ENST00000439673.6:c.4961A>T	ENSP00000399232.2:p.Glu1654Val
ENST00000497886.5:n.2993A>T
ENST00000568454.5:c.5102A>T	ENSP00000454487.1:p.Glu1701Val
ENST00000569110.1:c.1452A>T
ENST00000569930.1:n.2385A>T
NM_000548.3:c.5270A>T , LRG_487t1:c.5270A>T	NP_000539.2:p.Glu1757Val
NM_001077183.1:c.5069A>T	NP_001070651.1:p.Glu1690Val
NM_001114382.1:c.5201A>T	NP_001107854.1:p.Glu1734Val
XM_005255529.3:c.5141A>T	XP_005255586.2:p.Glu1714Val
XM_005255531.3:c.5072A>T	XP_005255588.2:p.Glu1691Val
XM_011522636.1:c.5324A>T	XP_011520938.1:p.Glu1775Val
XM_011522637.1:c.5321A>T	XP_011520939.1:p.Glu1774Val
XM_011522638.1:c.5213A>T	XP_011520940.1:p.Glu1738Val
XM_011522639.1:c.5195A>T	XP_011520941.1:p.Glu1732Val
XM_011522640.1:c.5192A>T	XP_011520942.1:p.Glu1731Val
XM_011522641.1:c.4961A>T	XP_011520943.1:p.Glu1654Val
NM_000548.4:c.5270A>T	NP_000539.2:p.Glu1757Val
NM_001077183.2:c.5069A>T	NP_001070651.1:p.Glu1690Val
NM_001114382.2:c.5201A>T	NP_001107854.1:p.Glu1734Val
NM_001318827.1:c.4961A>T	NP_001305756.1:p.Glu1654Val
NM_001318829.1:c.4925A>T	NP_001305758.1:p.Glu1642Val
NM_001318831.1:c.4538A>T	NP_001305760.1:p.Glu1513Val
NM_001318832.1:c.5102A>T	NP_001305761.1:p.Glu1701Val
NM_001363528.1:c.5072A>T	NP_001350457.1:p.Glu1691Val
NM_021055.2:c.5141A>T	NP_066399.2:p.Glu1714Val
XM_005255531.4:c.5072A>T	XP_005255588.2:p.Glu1691Val
XM_011522636.2:c.5324A>T	XP_011520938.1:p.Glu1775Val
XM_011522637.2:c.5321A>T	XP_011520939.1:p.Glu1774Val
XM_011522638.2:c.5486A>T	XP_011520940.2:p.Glu1829Val
XM_011522639.2:c.5195A>T	XP_011520941.1:p.Glu1732Val
XM_011522640.2:c.5192A>T	XP_011520942.1:p.Glu1731Val
XM_017023615.1:c.5267A>T	XP_016879104.1:p.Glu1756Val
XM_017023616.1:c.5138A>T	XP_016879105.1:p.Glu1713Val
XM_017023617.1:c.5234A>T	XP_016879106.1:p.Glu1745Val
XM_017023618.1:c.3980A>T	XP_016879107.1:p.Glu1327Val
XM_024450413.1:c.5156A>T	XP_024306181.1:p.Glu1719Val
NM_000548.5:c.5270A>T MANE Select	NP_000539.2:p.Glu1757Val
NM_001370404.1:c.5138A>T	NP_001357333.1:p.Glu1713Val
NM_001370405.1:c.5129A>T	NP_001357334.1:p.Glu1710Val
NM_001077183.3:c.5069A>T	NP_001070651.1:p.Glu1690Val
NM_001114382.3:c.5201A>T	NP_001107854.1:p.Glu1734Val
NM_001318827.2:c.4961A>T	NP_001305756.1:p.Glu1654Val
NM_001318829.2:c.4925A>T	NP_001305758.1:p.Glu1642Val
NM_001318831.2:c.4538A>T	NP_001305760.1:p.Glu1513Val
NM_001318832.2:c.5102A>T	NP_001305761.1:p.Glu1701Val
NM_001363528.2:c.5072A>T	NP_001350457.1:p.Glu1691Val
NM_021055.3:c.5141A>T	NP_066399.2:p.Glu1714Val