Canonical Allele Identifier: CA2202031811

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088257A= , CM000678.2:g.2088257A=	GRCh38
NC_000016.9:g.2138258A= , CM000678.1:g.2138258A=	GRCh37
NC_000016.8:g.2078259A=	NCBI36
NG_005895.1:g.43952A= , LRG_487:g.43952A=
NG_008617.1:g.54964T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3540A=	ENSP00000455997.2:n.*3540A=
ENST00000642206.2:c.5038A=	ENSP00000495146.2:p.Asn1680=
ENST00000642365.2:c.5188A=	ENSP00000495459.2:p.Asn1730=
ENST00000644417.2:c.*5704A=	ENSP00000493912.2:n.*5704A=
ENST00000646464.2:c.*7940A=	ENSP00000496610.2:n.*7940A=
ENST00000219476.9:c.5191A= MANE Select	ENSP00000219476.3:p.Asn1731=
ENST00000350773.9:c.5122A=	ENSP00000344383.4:p.Asn1708=
ENST00000401874.7:c.4990A=	ENSP00000384468.2:p.Asn1664=
ENST00000568454.6:c.5023A=	ENSP00000454487.1:p.Asn1675=
ENST00000569110.2:c.1414A=
ENST00000569930.2:n.3073A=
ENST00000642365.1:c.3845A=
ENST00000642561.1:c.5050A=	ENSP00000495099.1:p.Asn1684=
ENST00000642791.1:n.788A=
ENST00000642797.1:c.4993A=	ENSP00000493846.1:p.Asn1665=
ENST00000642936.1:c.5059A=	ENSP00000494514.1:p.Asn1687=
ENST00000643088.1:c.4984A=	ENSP00000494747.1:p.Asn1662=
ENST00000643426.1:n.2839A=
ENST00000643946.1:c.5116A=	ENSP00000495927.1:p.Asn1706=
ENST00000644043.1:c.5062A=	ENSP00000496262.1:p.Asn1688=
ENST00000644329.1:c.5077A=	ENSP00000496611.1:p.Asn1693=
ENST00000644335.1:c.4987A=	ENSP00000496317.1:p.Asn1663=
ENST00000644399.1:c.5112A=
ENST00000645024.1:n.3275A=
ENST00000646388.1:c.5185A=	ENSP00000495921.1:p.Asn1729=
ENST00000646634.1:n.4006A=
ENST00000646674.1:n.2443A=
ENST00000647042.1:n.2414A=
ENST00000647180.1:n.2304A=
ENST00000219476.7:c.5191A=	ENSP00000219476.3:p.Asn1731=
ENST00000350773.8:c.5122A=	ENSP00000344383.4:p.Asn1708=
ENST00000382538.10:c.4846A=	ENSP00000371978.6:p.Asn1616=
ENST00000401874.6:c.4990A=	ENSP00000384468.2:p.Asn1664=
ENST00000439117.6:c.*4358A=	ENSP00000406980.2:n.*4358A=
ENST00000439673.6:c.4882A=	ENSP00000399232.2:p.Asn1628=
ENST00000497886.5:n.2914A=
ENST00000568454.5:c.5023A=	ENSP00000454487.1:p.Asn1675=
ENST00000569110.1:c.1373A=
ENST00000569930.1:n.2306A=
NM_000548.3:c.5191A= , LRG_487t1:c.5191A=	NP_000539.2:p.Asn1731=
NM_001077183.1:c.4990A=	NP_001070651.1:p.Asn1664=
NM_001114382.1:c.5122A=	NP_001107854.1:p.Asn1708=
XM_005255529.3:c.5062A=	XP_005255586.2:p.Asn1688=
XM_005255531.3:c.4993A=	XP_005255588.2:p.Asn1665=
XM_011522636.1:c.5245A=	XP_011520938.1:p.Asn1749=
XM_011522637.1:c.5242A=	XP_011520939.1:p.Asn1748=
XM_011522638.1:c.5134A=	XP_011520940.1:p.Asn1712=
XM_011522639.1:c.5116A=	XP_011520941.1:p.Asn1706=
XM_011522640.1:c.5113A=	XP_011520942.1:p.Asn1705=
XM_011522641.1:c.4882A=	XP_011520943.1:p.Asn1628=
NM_000548.4:c.5191A=	NP_000539.2:p.Asn1731=
NM_001077183.2:c.4990A=	NP_001070651.1:p.Asn1664=
NM_001114382.2:c.5122A=	NP_001107854.1:p.Asn1708=
NM_001318827.1:c.4882A=	NP_001305756.1:p.Asn1628=
NM_001318829.1:c.4846A=	NP_001305758.1:p.Asn1616=
NM_001318831.1:c.4459A=	NP_001305760.1:p.Asn1487=
NM_001318832.1:c.5023A=	NP_001305761.1:p.Asn1675=
NM_001363528.1:c.4993A=	NP_001350457.1:p.Asn1665=
NM_021055.2:c.5062A=	NP_066399.2:p.Asn1688=
XM_005255531.4:c.4993A=	XP_005255588.2:p.Asn1665=
XM_011522636.2:c.5245A=	XP_011520938.1:p.Asn1749=
XM_011522637.2:c.5242A=	XP_011520939.1:p.Asn1748=
XM_011522638.2:c.5407A=	XP_011520940.2:p.Asn1803=
XM_011522639.2:c.5116A=	XP_011520941.1:p.Asn1706=
XM_011522640.2:c.5113A=	XP_011520942.1:p.Asn1705=
XM_017023615.1:c.5188A=	XP_016879104.1:p.Asn1730=
XM_017023616.1:c.5059A=	XP_016879105.1:p.Asn1687=
XM_017023617.1:c.5155A=	XP_016879106.1:p.Asn1719=
XM_017023618.1:c.3901A=	XP_016879107.1:p.Asn1301=
XM_024450413.1:c.5077A=	XP_024306181.1:p.Asn1693=
NM_000548.5:c.5191A= MANE Select	NP_000539.2:p.Asn1731=
NM_001370404.1:c.5059A=	NP_001357333.1:p.Asn1687=
NM_001370405.1:c.5050A=	NP_001357334.1:p.Asn1684=
NM_001077183.3:c.4990A=	NP_001070651.1:p.Asn1664=
NM_001114382.3:c.5122A=	NP_001107854.1:p.Asn1708=
NM_001318827.2:c.4882A=	NP_001305756.1:p.Asn1628=
NM_001318829.2:c.4846A=	NP_001305758.1:p.Asn1616=
NM_001318831.2:c.4459A=	NP_001305760.1:p.Asn1487=
NM_001318832.2:c.5023A=	NP_001305761.1:p.Asn1675=
NM_001363528.2:c.4993A=	NP_001350457.1:p.Asn1665=
NM_021055.3:c.5062A=	NP_066399.2:p.Asn1688=