Canonical Allele Identifier: CA015064

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50133
• ClinVar RCV Id: RCV000043401 ; RCV000484376
• dbSNP Id: rs137854023
• MyVariant Identifiers: chr16:g.2114392dupA (hg19) ; chr16:g.2064391dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064391dup , CM000678.2:g.2064391dup	GRCh38
NC_000016.9:g.2114392dup , CM000678.1:g.2114392dup	GRCh37
NC_000016.8:g.2054393dup	NCBI36
NG_005895.1:g.20086dup , LRG_487:g.20086dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*110dup	ENSP00000455997.2:n.*110dup
ENST00000642206.2:c.1608dup	ENSP00000495146.2:p.His537ThrfsTer?
ENST00000642365.2:c.1563dup	ENSP00000495459.2:p.His522ThrfsTer?
ENST00000644417.2:c.*1000dup	ENSP00000493912.2:n.*1000dup
ENST00000646464.2:c.*1168dup	ENSP00000496610.2:n.*1168dup
ENST00000219476.9:c.1563dup MANE Select	ENSP00000219476.3:p.His522ThrfsTer?
ENST00000350773.9:c.1563dup	ENSP00000344383.4:p.His522ThrfsTer?
ENST00000401874.7:c.1563dup	ENSP00000384468.2:p.His522ThrfsTer?
ENST00000463601.2:n.1691dup
ENST00000568454.6:c.1596dup	ENSP00000454487.1:p.His533ThrfsTer?
ENST00000642365.1:c.220dup
ENST00000642561.1:c.1563dup	ENSP00000495099.1:p.His522ThrfsTer?
ENST00000642797.1:c.1563dup	ENSP00000493846.1:p.His522ThrfsTer?
ENST00000642812.1:n.1608dup
ENST00000642936.1:c.1563dup	ENSP00000494514.1:p.His522ThrfsTer?
ENST00000643088.1:c.1563dup	ENSP00000494747.1:p.His522ThrfsTer?
ENST00000643149.1:n.3573dup
ENST00000643298.1:c.*1065dup	ENSP00000494393.1:n.*1065dup
ENST00000643745.1:c.*495dup	ENSP00000495948.1:n.*495dup
ENST00000643946.1:c.1563dup	ENSP00000495927.1:p.His522ThrfsTer?
ENST00000644043.1:c.1563dup	ENSP00000496262.1:p.His522ThrfsTer?
ENST00000644135.1:c.1563dup	ENSP00000495644.1:p.His522ThrfsTer?
ENST00000644222.1:n.1650dup
ENST00000644329.1:c.1563dup	ENSP00000496611.1:p.His522ThrfsTer?
ENST00000644335.1:c.1563dup	ENSP00000496317.1:p.His522ThrfsTer?
ENST00000644399.1:c.1556dup
ENST00000644665.1:n.2737dup
ENST00000644847.1:n.555dup
ENST00000645591.1:n.2621dup
ENST00000646388.1:c.1563dup	ENSP00000495921.1:p.His522ThrfsTer?
ENST00000646634.1:n.576dup
ENST00000647234.1:n.3321dup
ENST00000647242.1:n.2199dup
ENST00000219476.7:c.1563dup	ENSP00000219476.3:p.His522ThrfsTer?
ENST00000350773.8:c.1563dup	ENSP00000344383.4:p.His522ThrfsTer?
ENST00000382538.10:c.1416dup	ENSP00000371978.6:p.His473ThrfsTer?
ENST00000401874.6:c.1563dup	ENSP00000384468.2:p.His522ThrfsTer?
ENST00000439117.6:c.*862dup	ENSP00000406980.2:n.*862dup
ENST00000439673.6:c.1452dup	ENSP00000399232.2:p.His485ThrfsTer?
ENST00000490108.1:n.336dup
ENST00000568238.1:n.321dup
ENST00000568454.5:c.1596dup	ENSP00000454487.1:p.His533ThrfsTer?
ENST00000568566.5:c.203dup	ENSP00000455997.1:n.203dup
NM_000548.3:c.1563dup , LRG_487t1:c.1563dup	NP_000539.2:p.His522ThrfsTer?
NM_001077183.1:c.1563dup	NP_001070651.1:p.His522ThrfsTer?
NM_001114382.1:c.1563dup	NP_001107854.1:p.His522ThrfsTer?
XM_005255529.3:c.1563dup	XP_005255586.2:p.His522ThrfsTer?
XM_005255531.3:c.1563dup	XP_005255588.2:p.His522ThrfsTer?
XM_011522636.1:c.1563dup	XP_011520938.1:p.His522ThrfsTer?
XM_011522637.1:c.1563dup	XP_011520939.1:p.His522ThrfsTer?
XM_011522638.1:c.1452dup	XP_011520940.1:p.His485ThrfsTer?
XM_011522639.1:c.1563dup	XP_011520941.1:p.His522ThrfsTer?
XM_011522640.1:c.1563dup	XP_011520942.1:p.His522ThrfsTer?
XM_011522641.1:c.1452dup	XP_011520943.1:p.His485ThrfsTer?
NM_000548.4:c.1563dup	NP_000539.2:p.His522ThrfsTer?
NM_001077183.2:c.1563dup	NP_001070651.1:p.His522ThrfsTer?
NM_001114382.2:c.1563dup	NP_001107854.1:p.His522ThrfsTer?
NM_001318827.1:c.1452dup	NP_001305756.1:p.His485ThrfsTer?
NM_001318829.1:c.1416dup	NP_001305758.1:p.His473ThrfsTer?
NM_001318831.1:c.963dup	NP_001305760.1:p.His322ThrfsTer?
NM_001318832.1:c.1596dup	NP_001305761.1:p.His533ThrfsTer?
NM_001363528.1:c.1563dup	NP_001350457.1:p.His522ThrfsTer?
NM_021055.2:c.1563dup	NP_066399.2:p.His522ThrfsTer?
XM_005255531.4:c.1563dup	XP_005255588.2:p.His522ThrfsTer?
XM_011522636.2:c.1563dup	XP_011520938.1:p.His522ThrfsTer?
XM_011522637.2:c.1563dup	XP_011520939.1:p.His522ThrfsTer?
XM_011522638.2:c.1725dup	XP_011520940.2:p.His576ThrfsTer?
XM_011522639.2:c.1563dup	XP_011520941.1:p.His522ThrfsTer?
XM_011522640.2:c.1563dup	XP_011520942.1:p.His522ThrfsTer?
XM_017023615.1:c.1563dup	XP_016879104.1:p.His522ThrfsTer?
XM_017023616.1:c.1563dup	XP_016879105.1:p.His522ThrfsTer?
XM_017023617.1:c.1725dup	XP_016879106.1:p.His576ThrfsTer?
XM_017023618.1:c.219dup	XP_016879107.1:p.His74ThrfsTer?
XM_024450413.1:c.1563dup	XP_024306181.1:p.His522ThrfsTer?
NM_000548.5:c.1563dup MANE Select	NP_000539.2:p.His522ThrfsTer?
NM_001370404.1:c.1563dup	NP_001357333.1:p.His522ThrfsTer?
NM_001370405.1:c.1563dup	NP_001357334.1:p.His522ThrfsTer?
NM_001077183.3:c.1563dup	NP_001070651.1:p.His522ThrfsTer?
NM_001114382.3:c.1563dup	NP_001107854.1:p.His522ThrfsTer?
NM_001318827.2:c.1452dup	NP_001305756.1:p.His485ThrfsTer?
NM_001318829.2:c.1416dup	NP_001305758.1:p.His473ThrfsTer?
NM_001318831.2:c.963dup	NP_001305760.1:p.His322ThrfsTer?
NM_001318832.2:c.1596dup	NP_001305761.1:p.His533ThrfsTer?
NM_001363528.2:c.1563dup	NP_001350457.1:p.His522ThrfsTer?
NM_021055.3:c.1563dup	NP_066399.2:p.His522ThrfsTer?