Canonical Allele Identifier: CA2202045143

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084646_2084648delinsTAG , CM000678.2:g.2084646_2084648delinsTAG	GRCh38
NC_000016.9:g.2134647_2134649delinsTAG , CM000678.1:g.2134647_2134649delinsTAG	GRCh37
NC_000016.8:g.2074648_2074650delinsTAG	NCBI36
NG_005895.1:g.40341_40343delinsTAG , LRG_487:g.40341_40343delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2773_*2775delinsTAG	ENSP00000455997.2:n.*2773_*2775delinsTAG
ENST00000642206.2:c.4271_4273delinsTAG	ENSP00000495146.2:p.Val1424=
ENST00000642365.2:c.4421_4423delinsTAG	ENSP00000495459.2:p.Val1474=
ENST00000644417.2:c.*4804_*4806delinsTAG	ENSP00000493912.2:n.*4804_*4806delinsTAG
ENST00000646464.2:c.*7173_*7175delinsTAG	ENSP00000496610.2:n.*7173_*7175delinsTAG
ENST00000219476.9:c.4424_4426delinsTAG MANE Select	ENSP00000219476.3:p.Val1475=
ENST00000350773.9:c.4355_4357delinsTAG	ENSP00000344383.4:p.Val1452=
ENST00000401874.7:c.4223_4225delinsTAG	ENSP00000384468.2:p.Val1408=
ENST00000568454.6:c.4256_4258delinsTAG	ENSP00000454487.1:p.Val1419=
ENST00000569110.2:c.660_662delinsTAG
ENST00000569930.2:n.2306_2308delinsTAG
ENST00000642365.1:c.3078_3080delinsTAG
ENST00000642561.1:c.4295_4297delinsTAG	ENSP00000495099.1:p.Val1432=
ENST00000642728.1:n.606_608delinsTAG
ENST00000642797.1:c.4226_4228delinsTAG	ENSP00000493846.1:p.Val1409=
ENST00000642936.1:c.4292_4294delinsTAG	ENSP00000494514.1:p.Val1431=
ENST00000643088.1:c.4223_4225delinsTAG	ENSP00000494747.1:p.Val1408=
ENST00000643177.1:n.438_440delinsTAG
ENST00000643426.1:n.2072_2074delinsTAG
ENST00000643946.1:c.4355_4357delinsTAG	ENSP00000495927.1:p.Val1452=
ENST00000644043.1:c.4295_4297delinsTAG	ENSP00000496262.1:p.Val1432=
ENST00000644329.1:c.4223_4225delinsTAG	ENSP00000496611.1:p.Val1408=
ENST00000644335.1:c.4226_4228delinsTAG	ENSP00000496317.1:p.Val1409=
ENST00000644399.1:c.4345_4347delinsTAG
ENST00000645024.1:n.2508_2510delinsTAG
ENST00000646388.1:c.4424_4426delinsTAG	ENSP00000495921.1:p.Val1475=
ENST00000646634.1:n.3239_3241delinsTAG
ENST00000646674.1:n.1676_1678delinsTAG
ENST00000647042.1:n.1647_1649delinsTAG
ENST00000647180.1:n.1537_1539delinsTAG
ENST00000219476.7:c.4424_4426delinsTAG	ENSP00000219476.3:p.Val1475=
ENST00000350773.8:c.4355_4357delinsTAG	ENSP00000344383.4:p.Val1452=
ENST00000382538.10:c.4079_4081delinsTAG	ENSP00000371978.6:p.Val1360=
ENST00000401874.6:c.4223_4225delinsTAG	ENSP00000384468.2:p.Val1408=
ENST00000439117.6:c.*3591_*3593delinsTAG	ENSP00000406980.2:n.*3591_*3593delinsTAG
ENST00000439673.6:c.4115_4117delinsTAG	ENSP00000399232.2:p.Val1372=
ENST00000497886.5:n.2182_2184delinsTAG
ENST00000568454.5:c.4256_4258delinsTAG	ENSP00000454487.1:p.Val1419=
ENST00000569110.1:c.606_608delinsTAG
ENST00000569930.1:n.1539_1541delinsTAG
NM_000548.3:c.4424_4426delinsTAG , LRG_487t1:c.4424_4426delinsTAG	NP_000539.2:p.Val1475=
NM_001077183.1:c.4223_4225delinsTAG	NP_001070651.1:p.Val1408=
NM_001114382.1:c.4355_4357delinsTAG	NP_001107854.1:p.Val1452=
XM_005255529.3:c.4295_4297delinsTAG	XP_005255586.2:p.Val1432=
XM_005255531.3:c.4226_4228delinsTAG	XP_005255588.2:p.Val1409=
XM_011522636.1:c.4478_4480delinsTAG	XP_011520938.1:p.Val1493=
XM_011522637.1:c.4475_4477delinsTAG	XP_011520939.1:p.Val1492=
XM_011522638.1:c.4367_4369delinsTAG	XP_011520940.1:p.Val1456=
XM_011522639.1:c.4349_4351delinsTAG	XP_011520941.1:p.Val1450=
XM_011522640.1:c.4346_4348delinsTAG	XP_011520942.1:p.Val1449=
XM_011522641.1:c.4115_4117delinsTAG	XP_011520943.1:p.Val1372=
NM_000548.4:c.4424_4426delinsTAG	NP_000539.2:p.Val1475=
NM_001077183.2:c.4223_4225delinsTAG	NP_001070651.1:p.Val1408=
NM_001114382.2:c.4355_4357delinsTAG	NP_001107854.1:p.Val1452=
NM_001318827.1:c.4115_4117delinsTAG	NP_001305756.1:p.Val1372=
NM_001318829.1:c.4079_4081delinsTAG	NP_001305758.1:p.Val1360=
NM_001318831.1:c.3692_3694delinsTAG	NP_001305760.1:p.Val1231=
NM_001318832.1:c.4256_4258delinsTAG	NP_001305761.1:p.Val1419=
NM_001363528.1:c.4226_4228delinsTAG	NP_001350457.1:p.Val1409=
NM_021055.2:c.4295_4297delinsTAG	NP_066399.2:p.Val1432=
XM_005255531.4:c.4226_4228delinsTAG	XP_005255588.2:p.Val1409=
XM_011522636.2:c.4478_4480delinsTAG	XP_011520938.1:p.Val1493=
XM_011522637.2:c.4475_4477delinsTAG	XP_011520939.1:p.Val1492=
XM_011522638.2:c.4640_4642delinsTAG	XP_011520940.2:p.Val1547=
XM_011522639.2:c.4349_4351delinsTAG	XP_011520941.1:p.Val1450=
XM_011522640.2:c.4346_4348delinsTAG	XP_011520942.1:p.Val1449=
XM_017023615.1:c.4421_4423delinsTAG	XP_016879104.1:p.Val1474=
XM_017023616.1:c.4292_4294delinsTAG	XP_016879105.1:p.Val1431=
XM_017023617.1:c.4388_4390delinsTAG	XP_016879106.1:p.Val1463=
XM_017023618.1:c.3134_3136delinsTAG	XP_016879107.1:p.Val1045=
XM_024450413.1:c.4223_4225delinsTAG	XP_024306181.1:p.Val1408=
NM_000548.5:c.4424_4426delinsTAG MANE Select	NP_000539.2:p.Val1475=
NM_001370404.1:c.4292_4294delinsTAG	NP_001357333.1:p.Val1431=
NM_001370405.1:c.4295_4297delinsTAG	NP_001357334.1:p.Val1432=
NM_001077183.3:c.4223_4225delinsTAG	NP_001070651.1:p.Val1408=
NM_001114382.3:c.4355_4357delinsTAG	NP_001107854.1:p.Val1452=
NM_001318827.2:c.4115_4117delinsTAG	NP_001305756.1:p.Val1372=
NM_001318829.2:c.4079_4081delinsTAG	NP_001305758.1:p.Val1360=
NM_001318831.2:c.3692_3694delinsTAG	NP_001305760.1:p.Val1231=
NM_001318832.2:c.4256_4258delinsTAG	NP_001305761.1:p.Val1419=
NM_001363528.2:c.4226_4228delinsTAG	NP_001350457.1:p.Val1409=
NM_021055.3:c.4295_4297delinsTAG	NP_066399.2:p.Val1432=