Canonical Allele Identifier: CA394315621

Gene: TSC2

Linked Data

• ClinVar Variation Id: 468159
• ClinVar RCV Id: RCV003114667 ; RCV000560567 ; RCV003459244 ; RCV004527649
• dbSNP Id: rs755900742
• MyVariant Identifiers: chr16:g.2138520C>T (hg19) ; chr16:g.2088519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088519C>T , CM000678.2:g.2088519C>T	GRCh38
NC_000016.9:g.2138520C>T , CM000678.1:g.2138520C>T	GRCh37
NC_000016.8:g.2078521C>T	NCBI36
NG_005895.1:g.44214C>T , LRG_487:g.44214C>T
NG_008617.1:g.54702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3682C>T	ENSP00000455997.2:n.*3682C>T
ENST00000642206.2:c.5180C>T	ENSP00000495146.2:p.Ala1727Val
ENST00000642365.2:c.5330C>T	ENSP00000495459.2:p.Ala1777Val
ENST00000644417.2:c.*5846C>T	ENSP00000493912.2:n.*5846C>T
ENST00000646464.2:c.*8082C>T	ENSP00000496610.2:n.*8082C>T
ENST00000219476.9:c.5333C>T MANE Select	ENSP00000219476.3:p.Ala1778Val
ENST00000350773.9:c.5264C>T	ENSP00000344383.4:p.Ala1755Val
ENST00000401874.7:c.5132C>T	ENSP00000384468.2:p.Ala1711Val
ENST00000568454.6:c.5165C>T	ENSP00000454487.1:p.Ala1722Val
ENST00000569110.2:c.1556C>T
ENST00000569930.2:n.3215C>T
ENST00000642365.1:c.3987C>T
ENST00000642561.1:c.5192C>T	ENSP00000495099.1:p.Ala1731Val
ENST00000642791.1:n.930C>T
ENST00000642797.1:c.5135C>T	ENSP00000493846.1:p.Ala1712Val
ENST00000642936.1:c.5201C>T	ENSP00000494514.1:p.Ala1734Val
ENST00000643088.1:c.5126C>T	ENSP00000494747.1:p.Ala1709Val
ENST00000643426.1:n.2981C>T
ENST00000643946.1:c.5258C>T	ENSP00000495927.1:p.Ala1753Val
ENST00000644043.1:c.5204C>T	ENSP00000496262.1:p.Ala1735Val
ENST00000644329.1:c.5219C>T	ENSP00000496611.1:p.Ala1740Val
ENST00000644335.1:c.5129C>T	ENSP00000496317.1:p.Ala1710Val
ENST00000644399.1:c.5254C>T
ENST00000645024.1:n.3417C>T
ENST00000646388.1:c.5327C>T	ENSP00000495921.1:p.Ala1776Val
ENST00000646634.1:n.4148C>T
ENST00000646674.1:n.2585C>T
ENST00000647042.1:n.2556C>T
ENST00000647180.1:n.2446C>T
ENST00000219476.7:c.5333C>T	ENSP00000219476.3:p.Ala1778Val
ENST00000350773.8:c.5264C>T	ENSP00000344383.4:p.Ala1755Val
ENST00000382538.10:c.4988C>T	ENSP00000371978.6:p.Ala1663Val
ENST00000401874.6:c.5132C>T	ENSP00000384468.2:p.Ala1711Val
ENST00000439117.6:c.*4500C>T	ENSP00000406980.2:n.*4500C>T
ENST00000439673.6:c.5024C>T	ENSP00000399232.2:p.Ala1675Val
ENST00000497886.5:n.3056C>T
ENST00000568454.5:c.5165C>T	ENSP00000454487.1:p.Ala1722Val
ENST00000569110.1:c.1515C>T
ENST00000569930.1:n.2448C>T
NM_000548.3:c.5333C>T , LRG_487t1:c.5333C>T	NP_000539.2:p.Ala1778Val
NM_001077183.1:c.5132C>T	NP_001070651.1:p.Ala1711Val
NM_001114382.1:c.5264C>T	NP_001107854.1:p.Ala1755Val
XM_005255529.3:c.5204C>T	XP_005255586.2:p.Ala1735Val
XM_005255531.3:c.5135C>T	XP_005255588.2:p.Ala1712Val
XM_011522636.1:c.5387C>T	XP_011520938.1:p.Ala1796Val
XM_011522637.1:c.5384C>T	XP_011520939.1:p.Ala1795Val
XM_011522638.1:c.5276C>T	XP_011520940.1:p.Ala1759Val
XM_011522639.1:c.5258C>T	XP_011520941.1:p.Ala1753Val
XM_011522640.1:c.5255C>T	XP_011520942.1:p.Ala1752Val
XM_011522641.1:c.5024C>T	XP_011520943.1:p.Ala1675Val
NM_000548.4:c.5333C>T	NP_000539.2:p.Ala1778Val
NM_001077183.2:c.5132C>T	NP_001070651.1:p.Ala1711Val
NM_001114382.2:c.5264C>T	NP_001107854.1:p.Ala1755Val
NM_001318827.1:c.5024C>T	NP_001305756.1:p.Ala1675Val
NM_001318829.1:c.4988C>T	NP_001305758.1:p.Ala1663Val
NM_001318831.1:c.4601C>T	NP_001305760.1:p.Ala1534Val
NM_001318832.1:c.5165C>T	NP_001305761.1:p.Ala1722Val
NM_001363528.1:c.5135C>T	NP_001350457.1:p.Ala1712Val
NM_021055.2:c.5204C>T	NP_066399.2:p.Ala1735Val
XM_005255531.4:c.5135C>T	XP_005255588.2:p.Ala1712Val
XM_011522636.2:c.5387C>T	XP_011520938.1:p.Ala1796Val
XM_011522637.2:c.5384C>T	XP_011520939.1:p.Ala1795Val
XM_011522638.2:c.5549C>T	XP_011520940.2:p.Ala1850Val
XM_011522639.2:c.5258C>T	XP_011520941.1:p.Ala1753Val
XM_011522640.2:c.5255C>T	XP_011520942.1:p.Ala1752Val
XM_017023615.1:c.5330C>T	XP_016879104.1:p.Ala1777Val
XM_017023616.1:c.5201C>T	XP_016879105.1:p.Ala1734Val
XM_017023617.1:c.5297C>T	XP_016879106.1:p.Ala1766Val
XM_017023618.1:c.4043C>T	XP_016879107.1:p.Ala1348Val
XM_024450413.1:c.5219C>T	XP_024306181.1:p.Ala1740Val
NM_000548.5:c.5333C>T MANE Select	NP_000539.2:p.Ala1778Val
NM_001370404.1:c.5201C>T	NP_001357333.1:p.Ala1734Val
NM_001370405.1:c.5192C>T	NP_001357334.1:p.Ala1731Val
NM_001077183.3:c.5132C>T	NP_001070651.1:p.Ala1711Val
NM_001114382.3:c.5264C>T	NP_001107854.1:p.Ala1755Val
NM_001318827.2:c.5024C>T	NP_001305756.1:p.Ala1675Val
NM_001318829.2:c.4988C>T	NP_001305758.1:p.Ala1663Val
NM_001318831.2:c.4601C>T	NP_001305760.1:p.Ala1534Val
NM_001318832.2:c.5165C>T	NP_001305761.1:p.Ala1722Val
NM_001363528.2:c.5135C>T	NP_001350457.1:p.Ala1712Val
NM_021055.3:c.5204C>T	NP_066399.2:p.Ala1735Val