Canonical Allele Identifier: CA658658362

Gene: TSC2

Linked Data

• ClinVar Variation Id: 467880
• ClinVar RCV Id: RCV000537048
• dbSNP Id: rs1555502530
• MyVariant Identifiers: chr16:g.2114394_2114395dup (hg19) ; chr16:g.2064393_2064394dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064393_2064394dup , CM000678.2:g.2064393_2064394dup	GRCh38
NC_000016.9:g.2114394_2114395dup , CM000678.1:g.2114394_2114395dup	GRCh37
NC_000016.8:g.2054395_2054396dup	NCBI36
NG_005895.1:g.20088_20089dup , LRG_487:g.20088_20089dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*112_*113dup	ENSP00000455997.2:n.*112_*113dup
ENST00000642206.2:c.1610_1611dup	ENSP00000495146.2:p.His538ThrfsTer13
ENST00000642365.2:c.1565_1566dup	ENSP00000495459.2:p.His523ThrfsTer13
ENST00000644417.2:c.*1002_*1003dup	ENSP00000493912.2:n.*1002_*1003dup
ENST00000646464.2:c.*1170_*1171dup	ENSP00000496610.2:n.*1170_*1171dup
ENST00000219476.9:c.1565_1566dup MANE Select	ENSP00000219476.3:p.His523ThrfsTer13
ENST00000350773.9:c.1565_1566dup	ENSP00000344383.4:p.His523ThrfsTer13
ENST00000401874.7:c.1565_1566dup	ENSP00000384468.2:p.His523ThrfsTer13
ENST00000463601.2:n.1693_1694dup
ENST00000568454.6:c.1598_1599dup	ENSP00000454487.1:p.His534ThrfsTer13
ENST00000642365.1:c.222_223dup
ENST00000642561.1:c.1565_1566dup	ENSP00000495099.1:p.His523ThrfsTer13
ENST00000642797.1:c.1565_1566dup	ENSP00000493846.1:p.His523ThrfsTer13
ENST00000642812.1:n.1610_1611dup
ENST00000642936.1:c.1565_1566dup	ENSP00000494514.1:p.His523ThrfsTer13
ENST00000643088.1:c.1565_1566dup	ENSP00000494747.1:p.His523ThrfsTer13
ENST00000643149.1:n.3575_3576dup
ENST00000643298.1:c.*1067_*1068dup	ENSP00000494393.1:n.*1067_*1068dup
ENST00000643745.1:c.*497_*498dup	ENSP00000495948.1:n.*497_*498dup
ENST00000643946.1:c.1565_1566dup	ENSP00000495927.1:p.His523ThrfsTer13
ENST00000644043.1:c.1565_1566dup	ENSP00000496262.1:p.His523ThrfsTer13
ENST00000644135.1:c.1565_1566dup	ENSP00000495644.1:p.His523ThrfsTer13
ENST00000644222.1:n.1652_1653dup
ENST00000644329.1:c.1565_1566dup	ENSP00000496611.1:p.His523ThrfsTer13
ENST00000644335.1:c.1565_1566dup	ENSP00000496317.1:p.His523ThrfsTer13
ENST00000644399.1:c.1558_1559dup
ENST00000644665.1:n.2739_2740dup
ENST00000644847.1:n.557_558dup
ENST00000645591.1:n.2623_2624dup
ENST00000646388.1:c.1565_1566dup	ENSP00000495921.1:p.His523ThrfsTer13
ENST00000646634.1:n.578_579dup
ENST00000647234.1:n.3323_3324dup
ENST00000647242.1:n.2201_2202dup
ENST00000219476.7:c.1565_1566dup	ENSP00000219476.3:p.His523ThrfsTer13
ENST00000350773.8:c.1565_1566dup	ENSP00000344383.4:p.His523ThrfsTer13
ENST00000382538.10:c.1418_1419dup	ENSP00000371978.6:p.His474ThrfsTer13
ENST00000401874.6:c.1565_1566dup	ENSP00000384468.2:p.His523ThrfsTer13
ENST00000439117.6:c.*864_*865dup	ENSP00000406980.2:n.*864_*865dup
ENST00000439673.6:c.1454_1455dup	ENSP00000399232.2:p.His486ThrfsTer13
ENST00000490108.1:n.338_339dup
ENST00000568238.1:n.323_324dup
ENST00000568454.5:c.1598_1599dup	ENSP00000454487.1:p.His534ThrfsTer13
ENST00000568566.5:c.205_206dup	ENSP00000455997.1:n.205_206dup
NM_000548.3:c.1565_1566dup , LRG_487t1:c.1565_1566dup	NP_000539.2:p.His523ThrfsTer13
NM_001077183.1:c.1565_1566dup	NP_001070651.1:p.His523ThrfsTer13
NM_001114382.1:c.1565_1566dup	NP_001107854.1:p.His523ThrfsTer13
XM_005255529.3:c.1565_1566dup	XP_005255586.2:p.His523ThrfsTer13
XM_005255531.3:c.1565_1566dup	XP_005255588.2:p.His523ThrfsTer13
XM_011522636.1:c.1565_1566dup	XP_011520938.1:p.His523ThrfsTer13
XM_011522637.1:c.1565_1566dup	XP_011520939.1:p.His523ThrfsTer13
XM_011522638.1:c.1454_1455dup	XP_011520940.1:p.His486ThrfsTer13
XM_011522639.1:c.1565_1566dup	XP_011520941.1:p.His523ThrfsTer13
XM_011522640.1:c.1565_1566dup	XP_011520942.1:p.His523ThrfsTer13
XM_011522641.1:c.1454_1455dup	XP_011520943.1:p.His486ThrfsTer13
NM_000548.4:c.1565_1566dup	NP_000539.2:p.His523ThrfsTer13
NM_001077183.2:c.1565_1566dup	NP_001070651.1:p.His523ThrfsTer13
NM_001114382.2:c.1565_1566dup	NP_001107854.1:p.His523ThrfsTer13
NM_001318827.1:c.1454_1455dup	NP_001305756.1:p.His486ThrfsTer13
NM_001318829.1:c.1418_1419dup	NP_001305758.1:p.His474ThrfsTer13
NM_001318831.1:c.965_966dup	NP_001305760.1:p.His323ThrfsTer13
NM_001318832.1:c.1598_1599dup	NP_001305761.1:p.His534ThrfsTer13
NM_001363528.1:c.1565_1566dup	NP_001350457.1:p.His523ThrfsTer13
NM_021055.2:c.1565_1566dup	NP_066399.2:p.His523ThrfsTer13
XM_005255531.4:c.1565_1566dup	XP_005255588.2:p.His523ThrfsTer13
XM_011522636.2:c.1565_1566dup	XP_011520938.1:p.His523ThrfsTer13
XM_011522637.2:c.1565_1566dup	XP_011520939.1:p.His523ThrfsTer13
XM_011522638.2:c.1727_1728dup	XP_011520940.2:p.His577ThrfsTer13
XM_011522639.2:c.1565_1566dup	XP_011520941.1:p.His523ThrfsTer13
XM_011522640.2:c.1565_1566dup	XP_011520942.1:p.His523ThrfsTer13
XM_017023615.1:c.1565_1566dup	XP_016879104.1:p.His523ThrfsTer13
XM_017023616.1:c.1565_1566dup	XP_016879105.1:p.His523ThrfsTer13
XM_017023617.1:c.1727_1728dup	XP_016879106.1:p.His577ThrfsTer13
XM_017023618.1:c.221_222dup	XP_016879107.1:p.His75ThrfsTer13
XM_024450413.1:c.1565_1566dup	XP_024306181.1:p.His523ThrfsTer13
NM_000548.5:c.1565_1566dup MANE Select	NP_000539.2:p.His523ThrfsTer13
NM_001370404.1:c.1565_1566dup	NP_001357333.1:p.His523ThrfsTer13
NM_001370405.1:c.1565_1566dup	NP_001357334.1:p.His523ThrfsTer13
NM_001077183.3:c.1565_1566dup	NP_001070651.1:p.His523ThrfsTer13
NM_001114382.3:c.1565_1566dup	NP_001107854.1:p.His523ThrfsTer13
NM_001318827.2:c.1454_1455dup	NP_001305756.1:p.His486ThrfsTer13
NM_001318829.2:c.1418_1419dup	NP_001305758.1:p.His474ThrfsTer13
NM_001318831.2:c.965_966dup	NP_001305760.1:p.His323ThrfsTer13
NM_001318832.2:c.1598_1599dup	NP_001305761.1:p.His534ThrfsTer13
NM_001363528.2:c.1565_1566dup	NP_001350457.1:p.His523ThrfsTer13
NM_021055.3:c.1565_1566dup	NP_066399.2:p.His523ThrfsTer13