Canonical Allele Identifier: CA2580090980

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2088858
• ClinVar RCV Id: RCV003018204

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084638del , CM000678.2:g.2084638del	GRCh38
NC_000016.9:g.2134639del , CM000678.1:g.2134639del	GRCh37
NC_000016.8:g.2074640del	NCBI36
NG_005895.1:g.40333del , LRG_487:g.40333del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2765del	ENSP00000455997.2:n.*2765del
ENST00000642206.2:c.4263del	ENSP00000495146.2:p.Lys1422ArgfsTer3
ENST00000642365.2:c.4413del	ENSP00000495459.2:p.Lys1472ArgfsTer3
ENST00000644417.2:c.*4796del	ENSP00000493912.2:n.*4796del
ENST00000646464.2:c.*7165del	ENSP00000496610.2:n.*7165del
ENST00000219476.9:c.4416del MANE Select	ENSP00000219476.3:p.Lys1473ArgfsTer3
ENST00000350773.9:c.4347del	ENSP00000344383.4:p.Lys1450ArgfsTer3
ENST00000401874.7:c.4215del	ENSP00000384468.2:p.Lys1406ArgfsTer3
ENST00000568454.6:c.4248del	ENSP00000454487.1:p.Lys1417ArgfsTer3
ENST00000569110.2:c.652del
ENST00000569930.2:n.2298del
ENST00000642365.1:c.3070del
ENST00000642561.1:c.4287del	ENSP00000495099.1:p.Lys1430ArgfsTer3
ENST00000642728.1:n.598del
ENST00000642797.1:c.4218del	ENSP00000493846.1:p.Lys1407ArgfsTer3
ENST00000642936.1:c.4284del	ENSP00000494514.1:p.Lys1429ArgfsTer3
ENST00000643088.1:c.4215del	ENSP00000494747.1:p.Lys1406ArgfsTer3
ENST00000643177.1:n.430del
ENST00000643426.1:n.2064del
ENST00000643946.1:c.4347del	ENSP00000495927.1:p.Lys1450ArgfsTer3
ENST00000644043.1:c.4287del	ENSP00000496262.1:p.Lys1430ArgfsTer3
ENST00000644329.1:c.4215del	ENSP00000496611.1:p.Lys1406ArgfsTer3
ENST00000644335.1:c.4218del	ENSP00000496317.1:p.Lys1407ArgfsTer3
ENST00000644399.1:c.4337del
ENST00000645024.1:n.2500del
ENST00000646388.1:c.4416del	ENSP00000495921.1:p.Lys1473ArgfsTer3
ENST00000646634.1:n.3231del
ENST00000646674.1:n.1668del
ENST00000647042.1:n.1639del
ENST00000647180.1:n.1529del
ENST00000219476.7:c.4416del	ENSP00000219476.3:p.Lys1473ArgfsTer3
ENST00000350773.8:c.4347del	ENSP00000344383.4:p.Lys1450ArgfsTer3
ENST00000382538.10:c.4071del	ENSP00000371978.6:p.Lys1358ArgfsTer3
ENST00000401874.6:c.4215del	ENSP00000384468.2:p.Lys1406ArgfsTer3
ENST00000439117.6:c.*3583del	ENSP00000406980.2:n.*3583del
ENST00000439673.6:c.4107del	ENSP00000399232.2:p.Lys1370ArgfsTer3
ENST00000497886.5:n.2174del
ENST00000568454.5:c.4248del	ENSP00000454487.1:p.Lys1417ArgfsTer3
ENST00000569110.1:c.598del
ENST00000569930.1:n.1531del
NM_000548.3:c.4416del , LRG_487t1:c.4416del	NP_000539.2:p.Lys1473ArgfsTer3
NM_001077183.1:c.4215del	NP_001070651.1:p.Lys1406ArgfsTer3
NM_001114382.1:c.4347del	NP_001107854.1:p.Lys1450ArgfsTer3
XM_005255529.3:c.4287del	XP_005255586.2:p.Lys1430ArgfsTer3
XM_005255531.3:c.4218del	XP_005255588.2:p.Lys1407ArgfsTer3
XM_011522636.1:c.4470del	XP_011520938.1:p.Lys1491ArgfsTer3
XM_011522637.1:c.4467del	XP_011520939.1:p.Lys1490ArgfsTer3
XM_011522638.1:c.4359del	XP_011520940.1:p.Lys1454ArgfsTer3
XM_011522639.1:c.4341del	XP_011520941.1:p.Lys1448ArgfsTer3
XM_011522640.1:c.4338del	XP_011520942.1:p.Lys1447ArgfsTer3
XM_011522641.1:c.4107del	XP_011520943.1:p.Lys1370ArgfsTer3
NM_000548.4:c.4416del	NP_000539.2:p.Lys1473ArgfsTer3
NM_001077183.2:c.4215del	NP_001070651.1:p.Lys1406ArgfsTer3
NM_001114382.2:c.4347del	NP_001107854.1:p.Lys1450ArgfsTer3
NM_001318827.1:c.4107del	NP_001305756.1:p.Lys1370ArgfsTer3
NM_001318829.1:c.4071del	NP_001305758.1:p.Lys1358ArgfsTer3
NM_001318831.1:c.3684del	NP_001305760.1:p.Lys1229ArgfsTer3
NM_001318832.1:c.4248del	NP_001305761.1:p.Lys1417ArgfsTer3
NM_001363528.1:c.4218del	NP_001350457.1:p.Lys1407ArgfsTer3
NM_021055.2:c.4287del	NP_066399.2:p.Lys1430ArgfsTer3
XM_005255531.4:c.4218del	XP_005255588.2:p.Lys1407ArgfsTer3
XM_011522636.2:c.4470del	XP_011520938.1:p.Lys1491ArgfsTer3
XM_011522637.2:c.4467del	XP_011520939.1:p.Lys1490ArgfsTer3
XM_011522638.2:c.4632del	XP_011520940.2:p.Lys1545ArgfsTer3
XM_011522639.2:c.4341del	XP_011520941.1:p.Lys1448ArgfsTer3
XM_011522640.2:c.4338del	XP_011520942.1:p.Lys1447ArgfsTer3
XM_017023615.1:c.4413del	XP_016879104.1:p.Lys1472ArgfsTer3
XM_017023616.1:c.4284del	XP_016879105.1:p.Lys1429ArgfsTer3
XM_017023617.1:c.4380del	XP_016879106.1:p.Lys1461ArgfsTer3
XM_017023618.1:c.3126del	XP_016879107.1:p.Lys1043ArgfsTer3
XM_024450413.1:c.4215del	XP_024306181.1:p.Lys1406ArgfsTer3
NM_000548.5:c.4416del MANE Select	NP_000539.2:p.Lys1473ArgfsTer3
NM_001370404.1:c.4284del	NP_001357333.1:p.Lys1429ArgfsTer3
NM_001370405.1:c.4287del	NP_001357334.1:p.Lys1430ArgfsTer3
NM_001077183.3:c.4215del	NP_001070651.1:p.Lys1406ArgfsTer3
NM_001114382.3:c.4347del	NP_001107854.1:p.Lys1450ArgfsTer3
NM_001318827.2:c.4107del	NP_001305756.1:p.Lys1370ArgfsTer3
NM_001318829.2:c.4071del	NP_001305758.1:p.Lys1358ArgfsTer3
NM_001318831.2:c.3684del	NP_001305760.1:p.Lys1229ArgfsTer3
NM_001318832.2:c.4248del	NP_001305761.1:p.Lys1417ArgfsTer3
NM_001363528.2:c.4218del	NP_001350457.1:p.Lys1407ArgfsTer3
NM_021055.3:c.4287del	NP_066399.2:p.Lys1430ArgfsTer3