Canonical Allele Identifier: CA394301447

Gene: TSC2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084556T>A , CM000678.2:g.2084556T>A	GRCh38
NC_000016.9:g.2134557T>A , CM000678.1:g.2134557T>A	GRCh37
NC_000016.8:g.2074558T>A	NCBI36
NG_005895.1:g.40251T>A , LRG_487:g.40251T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2683T>A	ENSP00000455997.2:n.*2683T>A
ENST00000642206.2:c.4181T>A	ENSP00000495146.2:p.Leu1394Ter
ENST00000642365.2:c.4331T>A	ENSP00000495459.2:p.Leu1444Ter
ENST00000644417.2:c.*4714T>A	ENSP00000493912.2:n.*4714T>A
ENST00000646464.2:c.*7083T>A	ENSP00000496610.2:n.*7083T>A
ENST00000219476.9:c.4334T>A MANE Select	ENSP00000219476.3:p.Leu1445Ter
ENST00000350773.9:c.4265T>A	ENSP00000344383.4:p.Leu1422Ter
ENST00000401874.7:c.4133T>A	ENSP00000384468.2:p.Leu1378Ter
ENST00000568454.6:c.4166T>A	ENSP00000454487.1:p.Leu1389Ter
ENST00000569110.2:c.570T>A
ENST00000569930.2:n.2216T>A
ENST00000642365.1:c.2988T>A
ENST00000642561.1:c.4205T>A	ENSP00000495099.1:p.Leu1402Ter
ENST00000642728.1:n.516T>A
ENST00000642797.1:c.4136T>A	ENSP00000493846.1:p.Leu1379Ter
ENST00000642936.1:c.4202T>A	ENSP00000494514.1:p.Leu1401Ter
ENST00000643088.1:c.4133T>A	ENSP00000494747.1:p.Leu1378Ter
ENST00000643177.1:n.348T>A
ENST00000643426.1:n.1982T>A
ENST00000643946.1:c.4265T>A	ENSP00000495927.1:p.Leu1422Ter
ENST00000644043.1:c.4205T>A	ENSP00000496262.1:p.Leu1402Ter
ENST00000644329.1:c.4133T>A	ENSP00000496611.1:p.Leu1378Ter
ENST00000644335.1:c.4136T>A	ENSP00000496317.1:p.Leu1379Ter
ENST00000644399.1:c.4255T>A
ENST00000645024.1:n.2418T>A
ENST00000646388.1:c.4334T>A	ENSP00000495921.1:p.Leu1445Ter
ENST00000646634.1:n.3149T>A
ENST00000646674.1:n.1586T>A
ENST00000647042.1:n.1557T>A
ENST00000647180.1:n.1447T>A
ENST00000219476.7:c.4334T>A	ENSP00000219476.3:p.Leu1445Ter
ENST00000350773.8:c.4265T>A	ENSP00000344383.4:p.Leu1422Ter
ENST00000382538.10:c.3989T>A	ENSP00000371978.6:p.Leu1330Ter
ENST00000401874.6:c.4133T>A	ENSP00000384468.2:p.Leu1378Ter
ENST00000439117.6:c.*3501T>A	ENSP00000406980.2:n.*3501T>A
ENST00000439673.6:c.4025T>A	ENSP00000399232.2:p.Leu1342Ter
ENST00000497886.5:n.2092T>A
ENST00000568454.5:c.4166T>A	ENSP00000454487.1:p.Leu1389Ter
ENST00000569110.1:c.516T>A
ENST00000569930.1:n.1449T>A
NM_000548.3:c.4334T>A , LRG_487t1:c.4334T>A	NP_000539.2:p.Leu1445Ter
NM_001077183.1:c.4133T>A	NP_001070651.1:p.Leu1378Ter
NM_001114382.1:c.4265T>A	NP_001107854.1:p.Leu1422Ter
XM_005255529.3:c.4205T>A	XP_005255586.2:p.Leu1402Ter
XM_005255531.3:c.4136T>A	XP_005255588.2:p.Leu1379Ter
XM_011522636.1:c.4388T>A	XP_011520938.1:p.Leu1463Ter
XM_011522637.1:c.4385T>A	XP_011520939.1:p.Leu1462Ter
XM_011522638.1:c.4277T>A	XP_011520940.1:p.Leu1426Ter
XM_011522639.1:c.4259T>A	XP_011520941.1:p.Leu1420Ter
XM_011522640.1:c.4256T>A	XP_011520942.1:p.Leu1419Ter
XM_011522641.1:c.4025T>A	XP_011520943.1:p.Leu1342Ter
NM_000548.4:c.4334T>A	NP_000539.2:p.Leu1445Ter
NM_001077183.2:c.4133T>A	NP_001070651.1:p.Leu1378Ter
NM_001114382.2:c.4265T>A	NP_001107854.1:p.Leu1422Ter
NM_001318827.1:c.4025T>A	NP_001305756.1:p.Leu1342Ter
NM_001318829.1:c.3989T>A	NP_001305758.1:p.Leu1330Ter
NM_001318831.1:c.3602T>A	NP_001305760.1:p.Leu1201Ter
NM_001318832.1:c.4166T>A	NP_001305761.1:p.Leu1389Ter
NM_001363528.1:c.4136T>A	NP_001350457.1:p.Leu1379Ter
NM_021055.2:c.4205T>A	NP_066399.2:p.Leu1402Ter
XM_005255531.4:c.4136T>A	XP_005255588.2:p.Leu1379Ter
XM_011522636.2:c.4388T>A	XP_011520938.1:p.Leu1463Ter
XM_011522637.2:c.4385T>A	XP_011520939.1:p.Leu1462Ter
XM_011522638.2:c.4550T>A	XP_011520940.2:p.Leu1517Ter
XM_011522639.2:c.4259T>A	XP_011520941.1:p.Leu1420Ter
XM_011522640.2:c.4256T>A	XP_011520942.1:p.Leu1419Ter
XM_017023615.1:c.4331T>A	XP_016879104.1:p.Leu1444Ter
XM_017023616.1:c.4202T>A	XP_016879105.1:p.Leu1401Ter
XM_017023617.1:c.4298T>A	XP_016879106.1:p.Leu1433Ter
XM_017023618.1:c.3044T>A	XP_016879107.1:p.Leu1015Ter
XM_024450413.1:c.4133T>A	XP_024306181.1:p.Leu1378Ter
NM_000548.5:c.4334T>A MANE Select	NP_000539.2:p.Leu1445Ter
NM_001370404.1:c.4202T>A	NP_001357333.1:p.Leu1401Ter
NM_001370405.1:c.4205T>A	NP_001357334.1:p.Leu1402Ter
NM_001077183.3:c.4133T>A	NP_001070651.1:p.Leu1378Ter
NM_001114382.3:c.4265T>A	NP_001107854.1:p.Leu1422Ter
NM_001318827.2:c.4025T>A	NP_001305756.1:p.Leu1342Ter
NM_001318829.2:c.3989T>A	NP_001305758.1:p.Leu1330Ter
NM_001318831.2:c.3602T>A	NP_001305760.1:p.Leu1201Ter
NM_001318832.2:c.4166T>A	NP_001305761.1:p.Leu1389Ter
NM_001363528.2:c.4136T>A	NP_001350457.1:p.Leu1379Ter
NM_021055.3:c.4205T>A	NP_066399.2:p.Leu1402Ter