Canonical Allele Identifier: CA492956753

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2083786C>T , CM000678.2:g.2083786C>T	GRCh38
NC_000016.9:g.2133787C>T , CM000678.1:g.2133787C>T	GRCh37
NC_000016.8:g.2073788C>T	NCBI36
NG_005895.1:g.39481C>T , LRG_487:g.39481C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.3975C>T MANE Select	NP_000539.2:p.Gly1325=
ENST00000219476.9:c.3975C>T MANE Select	ENSP00000219476.3:p.Gly1325=
NM_000548.3:c.3975C>T , LRG_487t1:c.3975C>T	NP_000539.2:p.Gly1325=
NM_000548.4:c.3975C>T	NP_000539.2:p.Gly1325=
NM_001077183.1:c.3774C>T	NP_001070651.1:p.Gly1258=
NM_001077183.2:c.3774C>T	NP_001070651.1:p.Gly1258=
NM_001077183.3:c.3774C>T	NP_001070651.1:p.Gly1258=
NM_001114382.1:c.3906C>T	NP_001107854.1:p.Gly1302=
NM_001114382.2:c.3906C>T	NP_001107854.1:p.Gly1302=
NM_001114382.3:c.3906C>T	NP_001107854.1:p.Gly1302=
NM_001318827.1:c.3666C>T	NP_001305756.1:p.Gly1222=
NM_001318827.2:c.3666C>T	NP_001305756.1:p.Gly1222=
NM_001318829.1:c.3630C>T	NP_001305758.1:p.Gly1210=
NM_001318829.2:c.3630C>T	NP_001305758.1:p.Gly1210=
NM_001318831.1:c.3243C>T	NP_001305760.1:p.Gly1081=
NM_001318831.2:c.3243C>T	NP_001305760.1:p.Gly1081=
NM_001318832.1:c.3807C>T	NP_001305761.1:p.Gly1269=
NM_001318832.2:c.3807C>T	NP_001305761.1:p.Gly1269=
NM_001363528.1:c.3777C>T	NP_001350457.1:p.Gly1259=
NM_001363528.2:c.3777C>T	NP_001350457.1:p.Gly1259=
NM_001370404.1:c.3843C>T	NP_001357333.1:p.Gly1281=
NM_001370405.1:c.3846C>T	NP_001357334.1:p.Gly1282=
NM_021055.2:c.3846C>T	NP_066399.2:p.Gly1282=
NM_021055.3:c.3846C>T	NP_066399.2:p.Gly1282=
ENST00000219476.7:c.3975C>T	ENSP00000219476.3:p.Gly1325=
ENST00000350773.8:c.3906C>T	ENSP00000344383.4:p.Gly1302=
ENST00000350773.9:c.3906C>T	ENSP00000344383.4:p.Gly1302=
ENST00000382538.10:c.3630C>T	ENSP00000371978.6:p.Gly1210=
ENST00000401874.6:c.3774C>T	ENSP00000384468.2:p.Gly1258=
ENST00000401874.7:c.3774C>T	ENSP00000384468.2:p.Gly1258=
ENST00000439117.6:c.*3142C>T	ENSP00000406980.2:n.*3142C>T
ENST00000439673.6:c.3666C>T	ENSP00000399232.2:p.Gly1222=
ENST00000497886.5:n.1733C>T
ENST00000568454.5:c.3807C>T	ENSP00000454487.1:p.Gly1269=
ENST00000568454.6:c.3807C>T	ENSP00000454487.1:p.Gly1269=
ENST00000568566.6:c.*2324C>T	ENSP00000455997.2:n.*2324C>T
ENST00000569110.1:c.157C>T
ENST00000569110.2:c.211C>T
ENST00000569930.1:n.1090C>T
ENST00000569930.2:n.1857C>T
ENST00000642206.2:c.3822C>T	ENSP00000495146.2:p.Gly1274=
ENST00000642365.1:c.2629C>T
ENST00000642365.2:c.3972C>T	ENSP00000495459.2:p.Gly1324=
ENST00000642561.1:c.3846C>T	ENSP00000495099.1:p.Gly1282=
ENST00000642728.1:n.157C>T
ENST00000642797.1:c.3777C>T	ENSP00000493846.1:p.Gly1259=
ENST00000642936.1:c.3843C>T	ENSP00000494514.1:p.Gly1281=
ENST00000643088.1:c.3774C>T	ENSP00000494747.1:p.Gly1258=
ENST00000643426.1:n.1623C>T
ENST00000643533.1:n.416C>T
ENST00000643946.1:c.3906C>T	ENSP00000495927.1:p.Gly1302=
ENST00000644043.1:c.3846C>T	ENSP00000496262.1:p.Gly1282=
ENST00000644329.1:c.3774C>T	ENSP00000496611.1:p.Gly1258=
ENST00000644335.1:c.3777C>T	ENSP00000496317.1:p.Gly1259=
ENST00000644399.1:c.3896C>T
ENST00000644417.2:c.*4355C>T	ENSP00000493912.2:n.*4355C>T
ENST00000645024.1:n.2059C>T
ENST00000645186.1:c.218C>T
ENST00000646388.1:c.3975C>T	ENSP00000495921.1:p.Gly1325=
ENST00000646464.2:c.*6724C>T	ENSP00000496610.2:n.*6724C>T
ENST00000646634.1:n.2790C>T
ENST00000646674.1:n.1227C>T
ENST00000647042.1:n.1198C>T
ENST00000647180.1:n.1088C>T
XM_005255529.3:c.3846C>T	XP_005255586.2:p.Gly1282=
XM_005255531.3:c.3777C>T	XP_005255588.2:p.Gly1259=
XM_005255531.4:c.3777C>T	XP_005255588.2:p.Gly1259=
XM_011522636.1:c.4029C>T	XP_011520938.1:p.Gly1343=
XM_011522636.2:c.4029C>T	XP_011520938.1:p.Gly1343=
XM_011522637.1:c.4026C>T	XP_011520939.1:p.Gly1342=
XM_011522637.2:c.4026C>T	XP_011520939.1:p.Gly1342=
XM_011522638.1:c.3918C>T	XP_011520940.1:p.Gly1306=
XM_011522638.2:c.4191C>T	XP_011520940.2:p.Gly1397=
XM_011522639.1:c.3900C>T	XP_011520941.1:p.Gly1300=
XM_011522639.2:c.3900C>T	XP_011520941.1:p.Gly1300=
XM_011522640.1:c.3897C>T	XP_011520942.1:p.Gly1299=
XM_011522640.2:c.3897C>T	XP_011520942.1:p.Gly1299=
XM_011522641.1:c.3666C>T	XP_011520943.1:p.Gly1222=
XM_017023615.1:c.3972C>T	XP_016879104.1:p.Gly1324=
XM_017023616.1:c.3843C>T	XP_016879105.1:p.Gly1281=
XM_017023617.1:c.3939C>T	XP_016879106.1:p.Gly1313=
XM_017023618.1:c.2685C>T	XP_016879107.1:p.Gly895=
XM_024450413.1:c.3774C>T	XP_024306181.1:p.Gly1258=