Canonical Allele Identifier: CA020703

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49305
• ClinVar RCV Id: RCV000042564 ; RCV001194687
• dbSNP Id: rs137854425
• MyVariant Identifiers: chr16:g.2135233dupA (hg19) ; chr16:g.2085232dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085232dup , CM000678.2:g.2085232dup	GRCh38
NC_000016.9:g.2135233dup , CM000678.1:g.2135233dup	GRCh37
NC_000016.8:g.2075234dup	NCBI36
NG_005895.1:g.40927dup , LRG_487:g.40927dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2921dup	ENSP00000455997.2:n.*2921dup
ENST00000642206.2:c.4419dup	ENSP00000495146.2:p.Gln1474ThrfsTer4
ENST00000642365.2:c.4569dup	ENSP00000495459.2:p.Gln1524ThrfsTer4
ENST00000644417.2:c.*4952dup	ENSP00000493912.2:n.*4952dup
ENST00000646464.2:c.*7321dup	ENSP00000496610.2:n.*7321dup
ENST00000219476.9:c.4572dup MANE Select	ENSP00000219476.3:p.Gln1525ThrfsTer4
ENST00000350773.9:c.4503dup	ENSP00000344383.4:p.Gln1502ThrfsTer4
ENST00000401874.7:c.4371dup	ENSP00000384468.2:p.Gln1458ThrfsTer4
ENST00000568454.6:c.4404dup	ENSP00000454487.1:p.Gln1469ThrfsTer4
ENST00000569110.2:c.795dup
ENST00000569930.2:n.2454dup
ENST00000642365.1:c.3226dup
ENST00000642561.1:c.4443dup	ENSP00000495099.1:p.Gln1482ThrfsTer4
ENST00000642728.1:n.754dup
ENST00000642791.1:n.169dup
ENST00000642797.1:c.4374dup	ENSP00000493846.1:p.Gln1459ThrfsTer4
ENST00000642936.1:c.4440dup	ENSP00000494514.1:p.Gln1481ThrfsTer4
ENST00000643088.1:c.4369-4dup	ENSP00000494747.1:n.4369-4dup
ENST00000643177.1:n.586dup
ENST00000643426.1:n.2220dup
ENST00000643946.1:c.4501-4dup	ENSP00000495927.1:n.4501-4dup
ENST00000644043.1:c.4443dup	ENSP00000496262.1:p.Gln1482ThrfsTer4
ENST00000644278.1:n.54dup
ENST00000644329.1:c.4371dup	ENSP00000496611.1:p.Gln1458ThrfsTer4
ENST00000644335.1:c.4372-4dup	ENSP00000496317.1:n.4372-4dup
ENST00000644399.1:c.4493dup
ENST00000645024.1:n.2656dup
ENST00000646388.1:c.4570-4dup	ENSP00000495921.1:n.4570-4dup
ENST00000646634.1:n.3387dup
ENST00000646674.1:n.1824dup
ENST00000647042.1:n.1795dup
ENST00000647180.1:n.1685dup
ENST00000219476.7:c.4572dup	ENSP00000219476.3:p.Gln1525ThrfsTer4
ENST00000350773.8:c.4503dup	ENSP00000344383.4:p.Gln1502ThrfsTer4
ENST00000382538.10:c.4227dup	ENSP00000371978.6:p.Gln1410ThrfsTer4
ENST00000401874.6:c.4371dup	ENSP00000384468.2:p.Gln1458ThrfsTer4
ENST00000439117.6:c.*3739dup	ENSP00000406980.2:n.*3739dup
ENST00000439673.6:c.4263dup	ENSP00000399232.2:p.Gln1422ThrfsTer4
ENST00000497886.5:n.2330dup
ENST00000568454.5:c.4404dup	ENSP00000454487.1:p.Gln1469ThrfsTer4
ENST00000569110.1:c.754dup
ENST00000569930.1:n.1687dup
NM_000548.3:c.4572dup , LRG_487t1:c.4572dup	NP_000539.2:p.Gln1525ThrfsTer4
NM_001077183.1:c.4371dup	NP_001070651.1:p.Gln1458ThrfsTer4
NM_001114382.1:c.4503dup	NP_001107854.1:p.Gln1502ThrfsTer4
XM_005255529.3:c.4443dup	XP_005255586.2:p.Gln1482ThrfsTer4
XM_005255531.3:c.4374dup	XP_005255588.2:p.Gln1459ThrfsTer4
XM_011522636.1:c.4626dup	XP_011520938.1:p.Gln1543ThrfsTer4
XM_011522637.1:c.4623dup	XP_011520939.1:p.Gln1542ThrfsTer4
XM_011522638.1:c.4515dup	XP_011520940.1:p.Gln1506ThrfsTer4
XM_011522639.1:c.4497dup	XP_011520941.1:p.Gln1500ThrfsTer4
XM_011522640.1:c.4494dup	XP_011520942.1:p.Gln1499ThrfsTer4
XM_011522641.1:c.4263dup	XP_011520943.1:p.Gln1422ThrfsTer4
NM_000548.4:c.4572dup	NP_000539.2:p.Gln1525ThrfsTer4
NM_001077183.2:c.4371dup	NP_001070651.1:p.Gln1458ThrfsTer4
NM_001114382.2:c.4503dup	NP_001107854.1:p.Gln1502ThrfsTer4
NM_001318827.1:c.4263dup	NP_001305756.1:p.Gln1422ThrfsTer4
NM_001318829.1:c.4227dup	NP_001305758.1:p.Gln1410ThrfsTer4
NM_001318831.1:c.3840dup	NP_001305760.1:p.Gln1281ThrfsTer4
NM_001318832.1:c.4404dup	NP_001305761.1:p.Gln1469ThrfsTer4
NM_001363528.1:c.4374dup	NP_001350457.1:p.Gln1459ThrfsTer4
NM_021055.2:c.4443dup	NP_066399.2:p.Gln1482ThrfsTer4
XM_005255531.4:c.4374dup	XP_005255588.2:p.Gln1459ThrfsTer4
XM_011522636.2:c.4626dup	XP_011520938.1:p.Gln1543ThrfsTer4
XM_011522637.2:c.4623dup	XP_011520939.1:p.Gln1542ThrfsTer4
XM_011522638.2:c.4788dup	XP_011520940.2:p.Gln1597ThrfsTer4
XM_011522639.2:c.4497dup	XP_011520941.1:p.Gln1500ThrfsTer4
XM_011522640.2:c.4494dup	XP_011520942.1:p.Gln1499ThrfsTer4
XM_017023615.1:c.4569dup	XP_016879104.1:p.Gln1524ThrfsTer4
XM_017023616.1:c.4440dup	XP_016879105.1:p.Gln1481ThrfsTer4
XM_017023617.1:c.4536dup	XP_016879106.1:p.Gln1513ThrfsTer4
XM_017023618.1:c.3282dup	XP_016879107.1:p.Gln1095ThrfsTer4
XM_024450413.1:c.4371dup	XP_024306181.1:p.Gln1458ThrfsTer4
NM_000548.5:c.4572dup MANE Select	NP_000539.2:p.Gln1525ThrfsTer4
NM_001370404.1:c.4440dup	NP_001357333.1:p.Gln1481ThrfsTer4
NM_001370405.1:c.4443dup	NP_001357334.1:p.Gln1482ThrfsTer4
NM_001077183.3:c.4371dup	NP_001070651.1:p.Gln1458ThrfsTer4
NM_001114382.3:c.4503dup	NP_001107854.1:p.Gln1502ThrfsTer4
NM_001318827.2:c.4263dup	NP_001305756.1:p.Gln1422ThrfsTer4
NM_001318829.2:c.4227dup	NP_001305758.1:p.Gln1410ThrfsTer4
NM_001318831.2:c.3840dup	NP_001305760.1:p.Gln1281ThrfsTer4
NM_001318832.2:c.4404dup	NP_001305761.1:p.Gln1469ThrfsTer4
NM_001363528.2:c.4374dup	NP_001350457.1:p.Gln1459ThrfsTer4
NM_021055.3:c.4443dup	NP_066399.2:p.Gln1482ThrfsTer4