Canonical Allele Identifier: CA2202019431

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085285C= , CM000678.2:g.2085285C=	GRCh38
NC_000016.9:g.2135286C= , CM000678.1:g.2135286C=	GRCh37
NC_000016.8:g.2075287C=	NCBI36
NG_005895.1:g.40980C= , LRG_487:g.40980C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2974C=	ENSP00000455997.2:n.*2974C=
ENST00000642206.2:c.4472C=	ENSP00000495146.2:p.Thr1491=
ENST00000642365.2:c.4622C=	ENSP00000495459.2:p.Thr1541=
ENST00000644417.2:c.*5005C=	ENSP00000493912.2:n.*5005C=
ENST00000646464.2:c.*7374C=	ENSP00000496610.2:n.*7374C=
ENST00000219476.9:c.4625C= MANE Select	ENSP00000219476.3:p.Thr1542=
ENST00000350773.9:c.4556C=	ENSP00000344383.4:p.Thr1519=
ENST00000401874.7:c.4424C=	ENSP00000384468.2:p.Thr1475=
ENST00000568454.6:c.4457C=	ENSP00000454487.1:p.Thr1486=
ENST00000569110.2:c.848C=
ENST00000569930.2:n.2507C=
ENST00000642365.1:c.3279C=
ENST00000642561.1:c.4496C=	ENSP00000495099.1:p.Thr1499=
ENST00000642728.1:n.807C=
ENST00000642791.1:n.222C=
ENST00000642797.1:c.4427C=	ENSP00000493846.1:p.Thr1476=
ENST00000642936.1:c.4493C=	ENSP00000494514.1:p.Thr1498=
ENST00000643088.1:c.4418C=	ENSP00000494747.1:p.Thr1473=
ENST00000643177.1:n.639C=
ENST00000643426.1:n.2273C=
ENST00000643946.1:c.4550C=	ENSP00000495927.1:p.Thr1517=
ENST00000644043.1:c.4496C=	ENSP00000496262.1:p.Thr1499=
ENST00000644278.1:n.107C=
ENST00000644329.1:c.4424C=	ENSP00000496611.1:p.Thr1475=
ENST00000644335.1:c.4421C=	ENSP00000496317.1:p.Thr1474=
ENST00000644399.1:c.4546C=
ENST00000645024.1:n.2709C=
ENST00000646388.1:c.4619C=	ENSP00000495921.1:p.Thr1540=
ENST00000646634.1:n.3440C=
ENST00000646674.1:n.1877C=
ENST00000647042.1:n.1848C=
ENST00000647180.1:n.1738C=
ENST00000219476.7:c.4625C=	ENSP00000219476.3:p.Thr1542=
ENST00000350773.8:c.4556C=	ENSP00000344383.4:p.Thr1519=
ENST00000382538.10:c.4280C=	ENSP00000371978.6:p.Thr1427=
ENST00000401874.6:c.4424C=	ENSP00000384468.2:p.Thr1475=
ENST00000439117.6:c.*3792C=	ENSP00000406980.2:n.*3792C=
ENST00000439673.6:c.4316C=	ENSP00000399232.2:p.Thr1439=
ENST00000497886.5:n.2383C=
ENST00000568454.5:c.4457C=	ENSP00000454487.1:p.Thr1486=
ENST00000569110.1:c.807C=
ENST00000569930.1:n.1740C=
NM_000548.3:c.4625C= , LRG_487t1:c.4625C=	NP_000539.2:p.Thr1542=
NM_001077183.1:c.4424C=	NP_001070651.1:p.Thr1475=
NM_001114382.1:c.4556C=	NP_001107854.1:p.Thr1519=
XM_005255529.3:c.4496C=	XP_005255586.2:p.Thr1499=
XM_005255531.3:c.4427C=	XP_005255588.2:p.Thr1476=
XM_011522636.1:c.4679C=	XP_011520938.1:p.Thr1560=
XM_011522637.1:c.4676C=	XP_011520939.1:p.Thr1559=
XM_011522638.1:c.4568C=	XP_011520940.1:p.Thr1523=
XM_011522639.1:c.4550C=	XP_011520941.1:p.Thr1517=
XM_011522640.1:c.4547C=	XP_011520942.1:p.Thr1516=
XM_011522641.1:c.4316C=	XP_011520943.1:p.Thr1439=
NM_000548.4:c.4625C=	NP_000539.2:p.Thr1542=
NM_001077183.2:c.4424C=	NP_001070651.1:p.Thr1475=
NM_001114382.2:c.4556C=	NP_001107854.1:p.Thr1519=
NM_001318827.1:c.4316C=	NP_001305756.1:p.Thr1439=
NM_001318829.1:c.4280C=	NP_001305758.1:p.Thr1427=
NM_001318831.1:c.3893C=	NP_001305760.1:p.Thr1298=
NM_001318832.1:c.4457C=	NP_001305761.1:p.Thr1486=
NM_001363528.1:c.4427C=	NP_001350457.1:p.Thr1476=
NM_021055.2:c.4496C=	NP_066399.2:p.Thr1499=
XM_005255531.4:c.4427C=	XP_005255588.2:p.Thr1476=
XM_011522636.2:c.4679C=	XP_011520938.1:p.Thr1560=
XM_011522637.2:c.4676C=	XP_011520939.1:p.Thr1559=
XM_011522638.2:c.4841C=	XP_011520940.2:p.Thr1614=
XM_011522639.2:c.4550C=	XP_011520941.1:p.Thr1517=
XM_011522640.2:c.4547C=	XP_011520942.1:p.Thr1516=
XM_017023615.1:c.4622C=	XP_016879104.1:p.Thr1541=
XM_017023616.1:c.4493C=	XP_016879105.1:p.Thr1498=
XM_017023617.1:c.4589C=	XP_016879106.1:p.Thr1530=
XM_017023618.1:c.3335C=	XP_016879107.1:p.Thr1112=
XM_024450413.1:c.4424C=	XP_024306181.1:p.Thr1475=
NM_000548.5:c.4625C= MANE Select	NP_000539.2:p.Thr1542=
NM_001370404.1:c.4493C=	NP_001357333.1:p.Thr1498=
NM_001370405.1:c.4496C=	NP_001357334.1:p.Thr1499=
NM_001077183.3:c.4424C=	NP_001070651.1:p.Thr1475=
NM_001114382.3:c.4556C=	NP_001107854.1:p.Thr1519=
NM_001318827.2:c.4316C=	NP_001305756.1:p.Thr1439=
NM_001318829.2:c.4280C=	NP_001305758.1:p.Thr1427=
NM_001318831.2:c.3893C=	NP_001305760.1:p.Thr1298=
NM_001318832.2:c.4457C=	NP_001305761.1:p.Thr1486=
NM_001363528.2:c.4427C=	NP_001350457.1:p.Thr1476=
NM_021055.3:c.4496C=	NP_066399.2:p.Thr1499=