Canonical Allele Identifier: CA2695222025

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084550del , CM000678.2:g.2084550del	GRCh38
NC_000016.9:g.2134551del , CM000678.1:g.2134551del	GRCh37
NC_000016.8:g.2074552del	NCBI36
NG_005895.1:g.40245del , LRG_487:g.40245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2677del	ENSP00000455997.2:n.*2677del
ENST00000642206.2:c.4175del	ENSP00000495146.2:p.Gly1392ValfsTer?
ENST00000642365.2:c.4325del	ENSP00000495459.2:p.Gly1442ValfsTer?
ENST00000644417.2:c.*4708del	ENSP00000493912.2:n.*4708del
ENST00000646464.2:c.*7077del	ENSP00000496610.2:n.*7077del
ENST00000219476.9:c.4328del MANE Select	ENSP00000219476.3:p.Gly1443ValfsTer?
ENST00000350773.9:c.4259del	ENSP00000344383.4:p.Gly1420ValfsTer?
ENST00000401874.7:c.4127del	ENSP00000384468.2:p.Gly1376ValfsTer?
ENST00000568454.6:c.4160del	ENSP00000454487.1:p.Gly1387ValfsTer?
ENST00000569110.2:c.564del
ENST00000569930.2:n.2210del
ENST00000642365.1:c.2982del
ENST00000642561.1:c.4199del	ENSP00000495099.1:p.Gly1400ValfsTer?
ENST00000642728.1:n.510del
ENST00000642797.1:c.4130del	ENSP00000493846.1:p.Gly1377ValfsTer?
ENST00000642936.1:c.4196del	ENSP00000494514.1:p.Gly1399ValfsTer?
ENST00000643088.1:c.4127del	ENSP00000494747.1:p.Gly1376ValfsTer?
ENST00000643177.1:n.342del
ENST00000643426.1:n.1976del
ENST00000643946.1:c.4259del	ENSP00000495927.1:p.Gly1420ValfsTer?
ENST00000644043.1:c.4199del	ENSP00000496262.1:p.Gly1400ValfsTer?
ENST00000644329.1:c.4127del	ENSP00000496611.1:p.Gly1376ValfsTer?
ENST00000644335.1:c.4130del	ENSP00000496317.1:p.Gly1377ValfsTer?
ENST00000644399.1:c.4249del
ENST00000645024.1:n.2412del
ENST00000646388.1:c.4328del	ENSP00000495921.1:p.Gly1443ValfsTer?
ENST00000646634.1:n.3143del
ENST00000646674.1:n.1580del
ENST00000647042.1:n.1551del
ENST00000647180.1:n.1441del
ENST00000219476.7:c.4328del	ENSP00000219476.3:p.Gly1443ValfsTer?
ENST00000350773.8:c.4259del	ENSP00000344383.4:p.Gly1420ValfsTer?
ENST00000382538.10:c.3983del	ENSP00000371978.6:p.Gly1328ValfsTer?
ENST00000401874.6:c.4127del	ENSP00000384468.2:p.Gly1376ValfsTer?
ENST00000439117.6:c.*3495del	ENSP00000406980.2:n.*3495del
ENST00000439673.6:c.4019del	ENSP00000399232.2:p.Gly1340ValfsTer?
ENST00000497886.5:n.2086del
ENST00000568454.5:c.4160del	ENSP00000454487.1:p.Gly1387ValfsTer?
ENST00000569110.1:c.510del
ENST00000569930.1:n.1443del
NM_000548.3:c.4328del , LRG_487t1:c.4328del	NP_000539.2:p.Gly1443ValfsTer?
NM_001077183.1:c.4127del	NP_001070651.1:p.Gly1376ValfsTer?
NM_001114382.1:c.4259del	NP_001107854.1:p.Gly1420ValfsTer?
XM_005255529.3:c.4199del	XP_005255586.2:p.Gly1400ValfsTer?
XM_005255531.3:c.4130del	XP_005255588.2:p.Gly1377ValfsTer?
XM_011522636.1:c.4382del	XP_011520938.1:p.Gly1461ValfsTer?
XM_011522637.1:c.4379del	XP_011520939.1:p.Gly1460ValfsTer?
XM_011522638.1:c.4271del	XP_011520940.1:p.Gly1424ValfsTer?
XM_011522639.1:c.4253del	XP_011520941.1:p.Gly1418ValfsTer?
XM_011522640.1:c.4250del	XP_011520942.1:p.Gly1417ValfsTer?
XM_011522641.1:c.4019del	XP_011520943.1:p.Gly1340ValfsTer?
NM_000548.4:c.4328del	NP_000539.2:p.Gly1443ValfsTer?
NM_001077183.2:c.4127del	NP_001070651.1:p.Gly1376ValfsTer?
NM_001114382.2:c.4259del	NP_001107854.1:p.Gly1420ValfsTer?
NM_001318827.1:c.4019del	NP_001305756.1:p.Gly1340ValfsTer?
NM_001318829.1:c.3983del	NP_001305758.1:p.Gly1328ValfsTer?
NM_001318831.1:c.3596del	NP_001305760.1:p.Gly1199ValfsTer?
NM_001318832.1:c.4160del	NP_001305761.1:p.Gly1387ValfsTer?
NM_001363528.1:c.4130del	NP_001350457.1:p.Gly1377ValfsTer?
NM_021055.2:c.4199del	NP_066399.2:p.Gly1400ValfsTer?
XM_005255531.4:c.4130del	XP_005255588.2:p.Gly1377ValfsTer?
XM_011522636.2:c.4382del	XP_011520938.1:p.Gly1461ValfsTer?
XM_011522637.2:c.4379del	XP_011520939.1:p.Gly1460ValfsTer?
XM_011522638.2:c.4544del	XP_011520940.2:p.Gly1515ValfsTer?
XM_011522639.2:c.4253del	XP_011520941.1:p.Gly1418ValfsTer?
XM_011522640.2:c.4250del	XP_011520942.1:p.Gly1417ValfsTer?
XM_017023615.1:c.4325del	XP_016879104.1:p.Gly1442ValfsTer?
XM_017023616.1:c.4196del	XP_016879105.1:p.Gly1399ValfsTer?
XM_017023617.1:c.4292del	XP_016879106.1:p.Gly1431ValfsTer?
XM_017023618.1:c.3038del	XP_016879107.1:p.Gly1013ValfsTer?
XM_024450413.1:c.4127del	XP_024306181.1:p.Gly1376ValfsTer?
NM_000548.5:c.4328del MANE Select	NP_000539.2:p.Gly1443ValfsTer?
NM_001370404.1:c.4196del	NP_001357333.1:p.Gly1399ValfsTer?
NM_001370405.1:c.4199del	NP_001357334.1:p.Gly1400ValfsTer?
NM_001077183.3:c.4127del	NP_001070651.1:p.Gly1376ValfsTer?
NM_001114382.3:c.4259del	NP_001107854.1:p.Gly1420ValfsTer?
NM_001318827.2:c.4019del	NP_001305756.1:p.Gly1340ValfsTer?
NM_001318829.2:c.3983del	NP_001305758.1:p.Gly1328ValfsTer?
NM_001318831.2:c.3596del	NP_001305760.1:p.Gly1199ValfsTer?
NM_001318832.2:c.4160del	NP_001305761.1:p.Gly1387ValfsTer?
NM_001363528.2:c.4130del	NP_001350457.1:p.Gly1377ValfsTer?
NM_021055.3:c.4199del	NP_066399.2:p.Gly1400ValfsTer?