Canonical Allele Identifier: CA645573332

Gene: TSC2

Linked Data

• COSMIC: COSM1717887

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081675_2081691del , CM000678.2:g.2081675_2081691del	GRCh38
NC_000016.9:g.2131676_2131692del , CM000678.1:g.2131676_2131692del	GRCh37
NC_000016.8:g.2071677_2071693del	NCBI36
NG_005895.1:g.37370_37386del , LRG_487:g.37370_37386del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2109_*2125del	ENSP00000455997.2:n.*2109_*2125del
ENST00000642206.2:c.3607_3623del	ENSP00000495146.2:p.Leu1203GlyfsTer3
ENST00000642365.2:c.3688_3704del	ENSP00000495459.2:p.Leu1230GlyfsTer3
ENST00000644417.2:c.*4140_*4156del	ENSP00000493912.2:n.*4140_*4156del
ENST00000646464.2:c.*4613_*4629del	ENSP00000496610.2:n.*4613_*4629del
ENST00000219476.9:c.3691_3707del MANE Select	ENSP00000219476.3:p.Leu1231GlyfsTer3
ENST00000350773.9:c.3691_3707del	ENSP00000344383.4:p.Leu1231GlyfsTer3
ENST00000401874.7:c.3559_3575del	ENSP00000384468.2:p.Leu1187GlyfsTer3
ENST00000568454.6:c.3592_3608del	ENSP00000454487.1:p.Leu1198GlyfsTer3
ENST00000642365.1:c.2345_2361del
ENST00000642561.1:c.3562_3578del	ENSP00000495099.1:p.Leu1188GlyfsTer3
ENST00000642797.1:c.3562_3578del	ENSP00000493846.1:p.Leu1188GlyfsTer3
ENST00000642936.1:c.3559_3575del	ENSP00000494514.1:p.Leu1187GlyfsTer3
ENST00000643088.1:c.3559_3575del	ENSP00000494747.1:p.Leu1187GlyfsTer3
ENST00000643426.1:n.1339_1355del
ENST00000643533.1:n.201_217del
ENST00000643946.1:c.3691_3707del	ENSP00000495927.1:p.Leu1231GlyfsTer3
ENST00000644043.1:c.3562_3578del	ENSP00000496262.1:p.Leu1188GlyfsTer3
ENST00000644329.1:c.3559_3575del	ENSP00000496611.1:p.Leu1187GlyfsTer3
ENST00000644335.1:c.3562_3578del	ENSP00000496317.1:p.Leu1188GlyfsTer3
ENST00000644399.1:c.3681_3697del
ENST00000644722.1:n.837_853del
ENST00000645024.1:n.1844_1860del
ENST00000646388.1:c.3691_3707del	ENSP00000495921.1:p.Leu1231GlyfsTer3
ENST00000646634.1:n.2575_2591del
ENST00000646674.1:n.306_322del
ENST00000647042.1:n.983_999del
ENST00000647180.1:n.171_187del
ENST00000219476.7:c.3691_3707del	ENSP00000219476.3:p.Leu1231GlyfsTer3
ENST00000350773.8:c.3691_3707del	ENSP00000344383.4:p.Leu1231GlyfsTer3
ENST00000382538.10:c.3415_3431del	ENSP00000371978.6:p.Leu1139GlyfsTer3
ENST00000401874.6:c.3559_3575del	ENSP00000384468.2:p.Leu1187GlyfsTer3
ENST00000439117.6:c.*2858_*2874del	ENSP00000406980.2:n.*2858_*2874del
ENST00000439673.6:c.3451_3467del	ENSP00000399232.2:p.Leu1151GlyfsTer3
ENST00000497886.5:n.1518_1534del
ENST00000568454.5:c.3592_3608del	ENSP00000454487.1:p.Leu1198GlyfsTer3
NM_000548.3:c.3691_3707del , LRG_487t1:c.3691_3707del	NP_000539.2:p.Leu1231GlyfsTer3
NM_001077183.1:c.3559_3575del	NP_001070651.1:p.Leu1187GlyfsTer3
NM_001114382.1:c.3691_3707del	NP_001107854.1:p.Leu1231GlyfsTer3
XM_005255529.3:c.3562_3578del	XP_005255586.2:p.Leu1188GlyfsTer3
XM_005255531.3:c.3562_3578del	XP_005255588.2:p.Leu1188GlyfsTer3
XM_011522636.1:c.3691_3707del	XP_011520938.1:p.Leu1231GlyfsTer3
XM_011522637.1:c.3688_3704del	XP_011520939.1:p.Leu1230GlyfsTer3
XM_011522638.1:c.3580_3596del	XP_011520940.1:p.Leu1194GlyfsTer3
XM_011522639.1:c.3562_3578del	XP_011520941.1:p.Leu1188GlyfsTer3
XM_011522640.1:c.3559_3575del	XP_011520942.1:p.Leu1187GlyfsTer3
XM_011522641.1:c.3451_3467del	XP_011520943.1:p.Leu1151GlyfsTer3
NM_000548.4:c.3691_3707del	NP_000539.2:p.Leu1231GlyfsTer3
NM_001077183.2:c.3559_3575del	NP_001070651.1:p.Leu1187GlyfsTer3
NM_001114382.2:c.3691_3707del	NP_001107854.1:p.Leu1231GlyfsTer3
NM_001318827.1:c.3451_3467del	NP_001305756.1:p.Leu1151GlyfsTer3
NM_001318829.1:c.3415_3431del	NP_001305758.1:p.Leu1139GlyfsTer3
NM_001318831.1:c.2959_2975del	NP_001305760.1:p.Leu987GlyfsTer3
NM_001318832.1:c.3592_3608del	NP_001305761.1:p.Leu1198GlyfsTer3
NM_001363528.1:c.3562_3578del	NP_001350457.1:p.Leu1188GlyfsTer3
NM_021055.2:c.3562_3578del	NP_066399.2:p.Leu1188GlyfsTer3
XM_005255531.4:c.3562_3578del	XP_005255588.2:p.Leu1188GlyfsTer3
XM_011522636.2:c.3691_3707del	XP_011520938.1:p.Leu1231GlyfsTer3
XM_011522637.2:c.3688_3704del	XP_011520939.1:p.Leu1230GlyfsTer3
XM_011522638.2:c.3853_3869del	XP_011520940.2:p.Leu1285GlyfsTer3
XM_011522639.2:c.3562_3578del	XP_011520941.1:p.Leu1188GlyfsTer3
XM_011522640.2:c.3559_3575del	XP_011520942.1:p.Leu1187GlyfsTer3
XM_017023615.1:c.3688_3704del	XP_016879104.1:p.Leu1230GlyfsTer3
XM_017023616.1:c.3559_3575del	XP_016879105.1:p.Leu1187GlyfsTer3
XM_017023617.1:c.3724_3740del	XP_016879106.1:p.Leu1242GlyfsTer3
XM_017023618.1:c.2347_2363del	XP_016879107.1:p.Leu783GlyfsTer3
XM_024450413.1:c.3559_3575del	XP_024306181.1:p.Leu1187GlyfsTer3
NM_000548.5:c.3691_3707del MANE Select	NP_000539.2:p.Leu1231GlyfsTer3
NM_001370404.1:c.3559_3575del	NP_001357333.1:p.Leu1187GlyfsTer3
NM_001370405.1:c.3562_3578del	NP_001357334.1:p.Leu1188GlyfsTer3
NM_001077183.3:c.3559_3575del	NP_001070651.1:p.Leu1187GlyfsTer3
NM_001114382.3:c.3691_3707del	NP_001107854.1:p.Leu1231GlyfsTer3
NM_001318827.2:c.3451_3467del	NP_001305756.1:p.Leu1151GlyfsTer3
NM_001318829.2:c.3415_3431del	NP_001305758.1:p.Leu1139GlyfsTer3
NM_001318831.2:c.2959_2975del	NP_001305760.1:p.Leu987GlyfsTer3
NM_001318832.2:c.3592_3608del	NP_001305761.1:p.Leu1198GlyfsTer3
NM_001363528.2:c.3562_3578del	NP_001350457.1:p.Leu1188GlyfsTer3
NM_021055.3:c.3562_3578del	NP_066399.2:p.Leu1188GlyfsTer3