Canonical Allele Identifier: CA394312460

Gene: TSC2

Linked Data

• dbSNP Id: rs139779505
• MyVariant Identifiers: chr16:g.2138111G>T (hg19) ; chr16:g.2088110G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088110G>T , CM000678.2:g.2088110G>T	GRCh38
NC_000016.9:g.2138111G>T , CM000678.1:g.2138111G>T	GRCh37
NC_000016.8:g.2078112G>T	NCBI36
NG_005895.1:g.43805G>T , LRG_487:g.43805G>T
NG_008617.1:g.55111C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3480G>T	ENSP00000455997.2:n.*3480G>T
ENST00000642206.2:c.4978G>T	ENSP00000495146.2:p.Val1660Leu
ENST00000642365.2:c.5128G>T	ENSP00000495459.2:p.Val1710Leu
ENST00000644417.2:c.*5644G>T	ENSP00000493912.2:n.*5644G>T
ENST00000646464.2:c.*7880G>T	ENSP00000496610.2:n.*7880G>T
ENST00000219476.9:c.5131G>T MANE Select	ENSP00000219476.3:p.Val1711Leu
ENST00000350773.9:c.5062G>T	ENSP00000344383.4:p.Val1688Leu
ENST00000401874.7:c.4930G>T	ENSP00000384468.2:p.Val1644Leu
ENST00000568454.6:c.4963G>T	ENSP00000454487.1:p.Val1655Leu
ENST00000569110.2:c.1354G>T
ENST00000569930.2:n.3013G>T
ENST00000642365.1:c.3785G>T
ENST00000642561.1:c.5002G>T	ENSP00000495099.1:p.Val1668Leu
ENST00000642791.1:n.728G>T
ENST00000642797.1:c.4933G>T	ENSP00000493846.1:p.Val1645Leu
ENST00000642936.1:c.4999G>T	ENSP00000494514.1:p.Val1667Leu
ENST00000643088.1:c.4924G>T	ENSP00000494747.1:p.Val1642Leu
ENST00000643426.1:n.2779G>T
ENST00000643946.1:c.5056G>T	ENSP00000495927.1:p.Val1686Leu
ENST00000644043.1:c.5002G>T	ENSP00000496262.1:p.Val1668Leu
ENST00000644329.1:c.4930G>T	ENSP00000496611.1:p.Val1644Leu
ENST00000644335.1:c.4927G>T	ENSP00000496317.1:p.Val1643Leu
ENST00000644399.1:c.5052G>T
ENST00000645024.1:n.3215G>T
ENST00000646388.1:c.5125G>T	ENSP00000495921.1:p.Val1709Leu
ENST00000646634.1:n.3946G>T
ENST00000646674.1:n.2383G>T
ENST00000647042.1:n.2354G>T
ENST00000647180.1:n.2244G>T
ENST00000219476.7:c.5131G>T	ENSP00000219476.3:p.Val1711Leu
ENST00000350773.8:c.5062G>T	ENSP00000344383.4:p.Val1688Leu
ENST00000382538.10:c.4786G>T	ENSP00000371978.6:p.Val1596Leu
ENST00000401874.6:c.4930G>T	ENSP00000384468.2:p.Val1644Leu
ENST00000439117.6:c.*4298G>T	ENSP00000406980.2:n.*4298G>T
ENST00000439673.6:c.4822G>T	ENSP00000399232.2:p.Val1608Leu
ENST00000497886.5:n.2854G>T
ENST00000568454.5:c.4963G>T	ENSP00000454487.1:p.Val1655Leu
ENST00000569110.1:c.1313G>T
ENST00000569930.1:n.2246G>T
NM_000548.3:c.5131G>T , LRG_487t1:c.5131G>T	NP_000539.2:p.Val1711Leu
NM_001077183.1:c.4930G>T	NP_001070651.1:p.Val1644Leu
NM_001114382.1:c.5062G>T	NP_001107854.1:p.Val1688Leu
XM_005255529.3:c.5002G>T	XP_005255586.2:p.Val1668Leu
XM_005255531.3:c.4933G>T	XP_005255588.2:p.Val1645Leu
XM_011522636.1:c.5185G>T	XP_011520938.1:p.Val1729Leu
XM_011522637.1:c.5182G>T	XP_011520939.1:p.Val1728Leu
XM_011522638.1:c.5074G>T	XP_011520940.1:p.Val1692Leu
XM_011522639.1:c.5056G>T	XP_011520941.1:p.Val1686Leu
XM_011522640.1:c.5053G>T	XP_011520942.1:p.Val1685Leu
XM_011522641.1:c.4822G>T	XP_011520943.1:p.Val1608Leu
NM_000548.4:c.5131G>T	NP_000539.2:p.Val1711Leu
NM_001077183.2:c.4930G>T	NP_001070651.1:p.Val1644Leu
NM_001114382.2:c.5062G>T	NP_001107854.1:p.Val1688Leu
NM_001318827.1:c.4822G>T	NP_001305756.1:p.Val1608Leu
NM_001318829.1:c.4786G>T	NP_001305758.1:p.Val1596Leu
NM_001318831.1:c.4399G>T	NP_001305760.1:p.Val1467Leu
NM_001318832.1:c.4963G>T	NP_001305761.1:p.Val1655Leu
NM_001363528.1:c.4933G>T	NP_001350457.1:p.Val1645Leu
NM_021055.2:c.5002G>T	NP_066399.2:p.Val1668Leu
XM_005255531.4:c.4933G>T	XP_005255588.2:p.Val1645Leu
XM_011522636.2:c.5185G>T	XP_011520938.1:p.Val1729Leu
XM_011522637.2:c.5182G>T	XP_011520939.1:p.Val1728Leu
XM_011522638.2:c.5347G>T	XP_011520940.2:p.Val1783Leu
XM_011522639.2:c.5056G>T	XP_011520941.1:p.Val1686Leu
XM_011522640.2:c.5053G>T	XP_011520942.1:p.Val1685Leu
XM_017023615.1:c.5128G>T	XP_016879104.1:p.Val1710Leu
XM_017023616.1:c.4999G>T	XP_016879105.1:p.Val1667Leu
XM_017023617.1:c.5095G>T	XP_016879106.1:p.Val1699Leu
XM_017023618.1:c.3841G>T	XP_016879107.1:p.Val1281Leu
XM_024450413.1:c.4930G>T	XP_024306181.1:p.Val1644Leu
NM_000548.5:c.5131G>T MANE Select	NP_000539.2:p.Val1711Leu
NM_001370404.1:c.4999G>T	NP_001357333.1:p.Val1667Leu
NM_001370405.1:c.5002G>T	NP_001357334.1:p.Val1668Leu
NM_001077183.3:c.4930G>T	NP_001070651.1:p.Val1644Leu
NM_001114382.3:c.5062G>T	NP_001107854.1:p.Val1688Leu
NM_001318827.2:c.4822G>T	NP_001305756.1:p.Val1608Leu
NM_001318829.2:c.4786G>T	NP_001305758.1:p.Val1596Leu
NM_001318831.2:c.4399G>T	NP_001305760.1:p.Val1467Leu
NM_001318832.2:c.4963G>T	NP_001305761.1:p.Val1655Leu
NM_001363528.2:c.4933G>T	NP_001350457.1:p.Val1645Leu
NM_021055.3:c.5002G>T	NP_066399.2:p.Val1668Leu