Canonical Allele Identifier: CA394304843

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1051582
• ClinVar RCV Id: RCV001359645 ; RCV004036738
• dbSNP Id: rs2090628070
• MyVariant Identifiers: chr16:g.2135286C>T (hg19) ; chr16:g.2085285C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2974C>T	ENSP00000455997.2:n.*2974C>T
ENST00000642206.2:c.4472C>T	ENSP00000495146.2:p.Thr1491Ile
ENST00000642365.2:c.4622C>T	ENSP00000495459.2:p.Thr1541Ile
ENST00000644417.2:c.*5005C>T	ENSP00000493912.2:n.*5005C>T
ENST00000646464.2:c.*7374C>T	ENSP00000496610.2:n.*7374C>T
ENST00000219476.9:c.4625C>T MANE Select	ENSP00000219476.3:p.Thr1542Ile
ENST00000350773.9:c.4556C>T	ENSP00000344383.4:p.Thr1519Ile
ENST00000401874.7:c.4424C>T	ENSP00000384468.2:p.Thr1475Ile
ENST00000568454.6:c.4457C>T	ENSP00000454487.1:p.Thr1486Ile
ENST00000569110.2:c.848C>T
ENST00000569930.2:n.2507C>T
ENST00000642365.1:c.3279C>T
ENST00000642561.1:c.4496C>T	ENSP00000495099.1:p.Thr1499Ile
ENST00000642728.1:n.807C>T
ENST00000642791.1:n.222C>T
ENST00000642797.1:c.4427C>T	ENSP00000493846.1:p.Thr1476Ile
ENST00000642936.1:c.4493C>T	ENSP00000494514.1:p.Thr1498Ile
ENST00000643088.1:c.4418C>T	ENSP00000494747.1:p.Thr1473Ile
ENST00000643177.1:n.639C>T
ENST00000643426.1:n.2273C>T
ENST00000643946.1:c.4550C>T	ENSP00000495927.1:p.Thr1517Ile
ENST00000644043.1:c.4496C>T	ENSP00000496262.1:p.Thr1499Ile
ENST00000644278.1:n.107C>T
ENST00000644329.1:c.4424C>T	ENSP00000496611.1:p.Thr1475Ile
ENST00000644335.1:c.4421C>T	ENSP00000496317.1:p.Thr1474Ile
ENST00000644399.1:c.4546C>T
ENST00000645024.1:n.2709C>T
ENST00000646388.1:c.4619C>T	ENSP00000495921.1:p.Thr1540Ile
ENST00000646634.1:n.3440C>T
ENST00000646674.1:n.1877C>T
ENST00000647042.1:n.1848C>T
ENST00000647180.1:n.1738C>T
ENST00000219476.7:c.4625C>T	ENSP00000219476.3:p.Thr1542Ile
ENST00000350773.8:c.4556C>T	ENSP00000344383.4:p.Thr1519Ile
ENST00000382538.10:c.4280C>T	ENSP00000371978.6:p.Thr1427Ile
ENST00000401874.6:c.4424C>T	ENSP00000384468.2:p.Thr1475Ile
ENST00000439117.6:c.*3792C>T	ENSP00000406980.2:n.*3792C>T
ENST00000439673.6:c.4316C>T	ENSP00000399232.2:p.Thr1439Ile
ENST00000497886.5:n.2383C>T
ENST00000568454.5:c.4457C>T	ENSP00000454487.1:p.Thr1486Ile
ENST00000569110.1:c.807C>T
ENST00000569930.1:n.1740C>T
NM_000548.3:c.4625C>T , LRG_487t1:c.4625C>T	NP_000539.2:p.Thr1542Ile
NM_001077183.1:c.4424C>T	NP_001070651.1:p.Thr1475Ile
NM_001114382.1:c.4556C>T	NP_001107854.1:p.Thr1519Ile
XM_005255529.3:c.4496C>T	XP_005255586.2:p.Thr1499Ile
XM_005255531.3:c.4427C>T	XP_005255588.2:p.Thr1476Ile
XM_011522636.1:c.4679C>T	XP_011520938.1:p.Thr1560Ile
XM_011522637.1:c.4676C>T	XP_011520939.1:p.Thr1559Ile
XM_011522638.1:c.4568C>T	XP_011520940.1:p.Thr1523Ile
XM_011522639.1:c.4550C>T	XP_011520941.1:p.Thr1517Ile
XM_011522640.1:c.4547C>T	XP_011520942.1:p.Thr1516Ile
XM_011522641.1:c.4316C>T	XP_011520943.1:p.Thr1439Ile
NM_000548.4:c.4625C>T	NP_000539.2:p.Thr1542Ile
NM_001077183.2:c.4424C>T	NP_001070651.1:p.Thr1475Ile
NM_001114382.2:c.4556C>T	NP_001107854.1:p.Thr1519Ile
NM_001318827.1:c.4316C>T	NP_001305756.1:p.Thr1439Ile
NM_001318829.1:c.4280C>T	NP_001305758.1:p.Thr1427Ile
NM_001318831.1:c.3893C>T	NP_001305760.1:p.Thr1298Ile
NM_001318832.1:c.4457C>T	NP_001305761.1:p.Thr1486Ile
NM_001363528.1:c.4427C>T	NP_001350457.1:p.Thr1476Ile
NM_021055.2:c.4496C>T	NP_066399.2:p.Thr1499Ile
XM_005255531.4:c.4427C>T	XP_005255588.2:p.Thr1476Ile
XM_011522636.2:c.4679C>T	XP_011520938.1:p.Thr1560Ile
XM_011522637.2:c.4676C>T	XP_011520939.1:p.Thr1559Ile
XM_011522638.2:c.4841C>T	XP_011520940.2:p.Thr1614Ile
XM_011522639.2:c.4550C>T	XP_011520941.1:p.Thr1517Ile
XM_011522640.2:c.4547C>T	XP_011520942.1:p.Thr1516Ile
XM_017023615.1:c.4622C>T	XP_016879104.1:p.Thr1541Ile
XM_017023616.1:c.4493C>T	XP_016879105.1:p.Thr1498Ile
XM_017023617.1:c.4589C>T	XP_016879106.1:p.Thr1530Ile
XM_017023618.1:c.3335C>T	XP_016879107.1:p.Thr1112Ile
XM_024450413.1:c.4424C>T	XP_024306181.1:p.Thr1475Ile
NM_000548.5:c.4625C>T MANE Select	NP_000539.2:p.Thr1542Ile
NM_001370404.1:c.4493C>T	NP_001357333.1:p.Thr1498Ile
NM_001370405.1:c.4496C>T	NP_001357334.1:p.Thr1499Ile
NM_001077183.3:c.4424C>T	NP_001070651.1:p.Thr1475Ile
NM_001114382.3:c.4556C>T	NP_001107854.1:p.Thr1519Ile
NM_001318827.2:c.4316C>T	NP_001305756.1:p.Thr1439Ile
NM_001318829.2:c.4280C>T	NP_001305758.1:p.Thr1427Ile
NM_001318831.2:c.3893C>T	NP_001305760.1:p.Thr1298Ile
NM_001318832.2:c.4457C>T	NP_001305761.1:p.Thr1486Ile
NM_001363528.2:c.4427C>T	NP_001350457.1:p.Thr1476Ile
NM_021055.3:c.4496C>T	NP_066399.2:p.Thr1499Ile