Canonical Allele Identifier: CA16614834

Gene: TSC2

Linked Data

• ClinVar Variation Id: 406084
• ClinVar RCV Id: RCV000461643 ; RCV004022584
• dbSNP Id: rs778378296
• MyVariant Identifiers: chr16:g.2138266C>A (hg19) ; chr16:g.2088265C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088265C>A , CM000678.2:g.2088265C>A	GRCh38
NC_000016.9:g.2138266C>A , CM000678.1:g.2138266C>A	GRCh37
NC_000016.8:g.2078267C>A	NCBI36
NG_005895.1:g.43960C>A , LRG_487:g.43960C>A
NG_008617.1:g.54956G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3548C>A	ENSP00000455997.2:n.*3548C>A
ENST00000642206.2:c.5046C>A	ENSP00000495146.2:p.Thr1682=
ENST00000642365.2:c.5196C>A	ENSP00000495459.2:p.Thr1732=
ENST00000644417.2:c.*5712C>A	ENSP00000493912.2:n.*5712C>A
ENST00000646464.2:c.*7948C>A	ENSP00000496610.2:n.*7948C>A
ENST00000219476.9:c.5199C>A MANE Select	ENSP00000219476.3:p.Thr1733=
ENST00000350773.9:c.5130C>A	ENSP00000344383.4:p.Thr1710=
ENST00000401874.7:c.4998C>A	ENSP00000384468.2:p.Thr1666=
ENST00000568454.6:c.5031C>A	ENSP00000454487.1:p.Thr1677=
ENST00000569110.2:c.1422C>A
ENST00000569930.2:n.3081C>A
ENST00000642365.1:c.3853C>A
ENST00000642561.1:c.5058C>A	ENSP00000495099.1:p.Thr1686=
ENST00000642791.1:n.796C>A
ENST00000642797.1:c.5001C>A	ENSP00000493846.1:p.Thr1667=
ENST00000642936.1:c.5067C>A	ENSP00000494514.1:p.Thr1689=
ENST00000643088.1:c.4992C>A	ENSP00000494747.1:p.Thr1664=
ENST00000643426.1:n.2847C>A
ENST00000643946.1:c.5124C>A	ENSP00000495927.1:p.Thr1708=
ENST00000644043.1:c.5070C>A	ENSP00000496262.1:p.Thr1690=
ENST00000644329.1:c.5085C>A	ENSP00000496611.1:p.Thr1695=
ENST00000644335.1:c.4995C>A	ENSP00000496317.1:p.Thr1665=
ENST00000644399.1:c.5120C>A
ENST00000645024.1:n.3283C>A
ENST00000646388.1:c.5193C>A	ENSP00000495921.1:p.Thr1731=
ENST00000646634.1:n.4014C>A
ENST00000646674.1:n.2451C>A
ENST00000647042.1:n.2422C>A
ENST00000647180.1:n.2312C>A
ENST00000219476.7:c.5199C>A	ENSP00000219476.3:p.Thr1733=
ENST00000350773.8:c.5130C>A	ENSP00000344383.4:p.Thr1710=
ENST00000382538.10:c.4854C>A	ENSP00000371978.6:p.Thr1618=
ENST00000401874.6:c.4998C>A	ENSP00000384468.2:p.Thr1666=
ENST00000439117.6:c.*4366C>A	ENSP00000406980.2:n.*4366C>A
ENST00000439673.6:c.4890C>A	ENSP00000399232.2:p.Thr1630=
ENST00000497886.5:n.2922C>A
ENST00000568454.5:c.5031C>A	ENSP00000454487.1:p.Thr1677=
ENST00000569110.1:c.1381C>A
ENST00000569930.1:n.2314C>A
NM_000548.3:c.5199C>A , LRG_487t1:c.5199C>A	NP_000539.2:p.Thr1733=
NM_001077183.1:c.4998C>A	NP_001070651.1:p.Thr1666=
NM_001114382.1:c.5130C>A	NP_001107854.1:p.Thr1710=
XM_005255529.3:c.5070C>A	XP_005255586.2:p.Thr1690=
XM_005255531.3:c.5001C>A	XP_005255588.2:p.Thr1667=
XM_011522636.1:c.5253C>A	XP_011520938.1:p.Thr1751=
XM_011522637.1:c.5250C>A	XP_011520939.1:p.Thr1750=
XM_011522638.1:c.5142C>A	XP_011520940.1:p.Thr1714=
XM_011522639.1:c.5124C>A	XP_011520941.1:p.Thr1708=
XM_011522640.1:c.5121C>A	XP_011520942.1:p.Thr1707=
XM_011522641.1:c.4890C>A	XP_011520943.1:p.Thr1630=
NM_000548.4:c.5199C>A	NP_000539.2:p.Thr1733=
NM_001077183.2:c.4998C>A	NP_001070651.1:p.Thr1666=
NM_001114382.2:c.5130C>A	NP_001107854.1:p.Thr1710=
NM_001318827.1:c.4890C>A	NP_001305756.1:p.Thr1630=
NM_001318829.1:c.4854C>A	NP_001305758.1:p.Thr1618=
NM_001318831.1:c.4467C>A	NP_001305760.1:p.Thr1489=
NM_001318832.1:c.5031C>A	NP_001305761.1:p.Thr1677=
NM_001363528.1:c.5001C>A	NP_001350457.1:p.Thr1667=
NM_021055.2:c.5070C>A	NP_066399.2:p.Thr1690=
XM_005255531.4:c.5001C>A	XP_005255588.2:p.Thr1667=
XM_011522636.2:c.5253C>A	XP_011520938.1:p.Thr1751=
XM_011522637.2:c.5250C>A	XP_011520939.1:p.Thr1750=
XM_011522638.2:c.5415C>A	XP_011520940.2:p.Thr1805=
XM_011522639.2:c.5124C>A	XP_011520941.1:p.Thr1708=
XM_011522640.2:c.5121C>A	XP_011520942.1:p.Thr1707=
XM_017023615.1:c.5196C>A	XP_016879104.1:p.Thr1732=
XM_017023616.1:c.5067C>A	XP_016879105.1:p.Thr1689=
XM_017023617.1:c.5163C>A	XP_016879106.1:p.Thr1721=
XM_017023618.1:c.3909C>A	XP_016879107.1:p.Thr1303=
XM_024450413.1:c.5085C>A	XP_024306181.1:p.Thr1695=
NM_000548.5:c.5199C>A MANE Select	NP_000539.2:p.Thr1733=
NM_001370404.1:c.5067C>A	NP_001357333.1:p.Thr1689=
NM_001370405.1:c.5058C>A	NP_001357334.1:p.Thr1686=
NM_001077183.3:c.4998C>A	NP_001070651.1:p.Thr1666=
NM_001114382.3:c.5130C>A	NP_001107854.1:p.Thr1710=
NM_001318827.2:c.4890C>A	NP_001305756.1:p.Thr1630=
NM_001318829.2:c.4854C>A	NP_001305758.1:p.Thr1618=
NM_001318831.2:c.4467C>A	NP_001305760.1:p.Thr1489=
NM_001318832.2:c.5031C>A	NP_001305761.1:p.Thr1677=
NM_001363528.2:c.5001C>A	NP_001350457.1:p.Thr1667=
NM_021055.3:c.5070C>A	NP_066399.2:p.Thr1690=