Canonical Allele Identifier: CA2695221406

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085002_2085003del , CM000678.2:g.2085002_2085003del	GRCh38
NC_000016.9:g.2135003_2135004del , CM000678.1:g.2135003_2135004del	GRCh37
NC_000016.8:g.2075004_2075005del	NCBI36
NG_005895.1:g.40697_40698del , LRG_487:g.40697_40698del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2894_*2895del	ENSP00000455997.2:n.*2894_*2895del
ENST00000642206.2:c.4392_4393del	ENSP00000495146.2:p.Asn1464LysfsTer8
ENST00000642365.2:c.4542_4543del	ENSP00000495459.2:p.Asn1514LysfsTer8
ENST00000644417.2:c.*4925_*4926del	ENSP00000493912.2:n.*4925_*4926del
ENST00000646464.2:c.*7294_*7295del	ENSP00000496610.2:n.*7294_*7295del
ENST00000219476.9:c.4545_4546del MANE Select	ENSP00000219476.3:p.Asn1515LysfsTer8
ENST00000350773.9:c.4476_4477del	ENSP00000344383.4:p.Asn1492LysfsTer8
ENST00000401874.7:c.4344_4345del	ENSP00000384468.2:p.Asn1448LysfsTer8
ENST00000568454.6:c.4377_4378del	ENSP00000454487.1:p.Asn1459LysfsTer8
ENST00000569110.2:c.768_769del
ENST00000569930.2:n.2427_2428del
ENST00000642365.1:c.3199_3200del
ENST00000642561.1:c.4416_4417del	ENSP00000495099.1:p.Asn1472LysfsTer8
ENST00000642728.1:n.727_728del
ENST00000642797.1:c.4347_4348del	ENSP00000493846.1:p.Asn1449LysfsTer8
ENST00000642936.1:c.4413_4414del	ENSP00000494514.1:p.Asn1471LysfsTer8
ENST00000643088.1:c.4344_4345del	ENSP00000494747.1:p.Asn1448LysfsTer8
ENST00000643177.1:n.559_560del
ENST00000643426.1:n.2193_2194del
ENST00000643946.1:c.4476_4477del	ENSP00000495927.1:p.Asn1492LysfsTer8
ENST00000644043.1:c.4416_4417del	ENSP00000496262.1:p.Asn1472LysfsTer8
ENST00000644329.1:c.4344_4345del	ENSP00000496611.1:p.Asn1448LysfsTer8
ENST00000644335.1:c.4347_4348del	ENSP00000496317.1:p.Asn1449LysfsTer8
ENST00000644399.1:c.4466_4467del
ENST00000645024.1:n.2629_2630del
ENST00000646388.1:c.4545_4546del	ENSP00000495921.1:p.Asn1515LysfsTer8
ENST00000646634.1:n.3360_3361del
ENST00000646674.1:n.1797_1798del
ENST00000647042.1:n.1768_1769del
ENST00000647180.1:n.1658_1659del
ENST00000219476.7:c.4545_4546del	ENSP00000219476.3:p.Asn1515LysfsTer8
ENST00000350773.8:c.4476_4477del	ENSP00000344383.4:p.Asn1492LysfsTer8
ENST00000382538.10:c.4200_4201del	ENSP00000371978.6:p.Asn1400LysfsTer8
ENST00000401874.6:c.4344_4345del	ENSP00000384468.2:p.Asn1448LysfsTer8
ENST00000439117.6:c.*3712_*3713del	ENSP00000406980.2:n.*3712_*3713del
ENST00000439673.6:c.4236_4237del	ENSP00000399232.2:p.Asn1412LysfsTer8
ENST00000497886.5:n.2303_2304del
ENST00000568454.5:c.4377_4378del	ENSP00000454487.1:p.Asn1459LysfsTer8
ENST00000569110.1:c.727_728del
ENST00000569930.1:n.1660_1661del
NM_000548.3:c.4545_4546del , LRG_487t1:c.4545_4546del	NP_000539.2:p.Asn1515LysfsTer8
NM_001077183.1:c.4344_4345del	NP_001070651.1:p.Asn1448LysfsTer8
NM_001114382.1:c.4476_4477del	NP_001107854.1:p.Asn1492LysfsTer8
XM_005255529.3:c.4416_4417del	XP_005255586.2:p.Asn1472LysfsTer8
XM_005255531.3:c.4347_4348del	XP_005255588.2:p.Asn1449LysfsTer8
XM_011522636.1:c.4599_4600del	XP_011520938.1:p.Asn1533LysfsTer8
XM_011522637.1:c.4596_4597del	XP_011520939.1:p.Asn1532LysfsTer8
XM_011522638.1:c.4488_4489del	XP_011520940.1:p.Asn1496LysfsTer8
XM_011522639.1:c.4470_4471del	XP_011520941.1:p.Asn1490LysfsTer8
XM_011522640.1:c.4467_4468del	XP_011520942.1:p.Asn1489LysfsTer8
XM_011522641.1:c.4236_4237del	XP_011520943.1:p.Asn1412LysfsTer8
NM_000548.4:c.4545_4546del	NP_000539.2:p.Asn1515LysfsTer8
NM_001077183.2:c.4344_4345del	NP_001070651.1:p.Asn1448LysfsTer8
NM_001114382.2:c.4476_4477del	NP_001107854.1:p.Asn1492LysfsTer8
NM_001318827.1:c.4236_4237del	NP_001305756.1:p.Asn1412LysfsTer8
NM_001318829.1:c.4200_4201del	NP_001305758.1:p.Asn1400LysfsTer8
NM_001318831.1:c.3813_3814del	NP_001305760.1:p.Asn1271LysfsTer8
NM_001318832.1:c.4377_4378del	NP_001305761.1:p.Asn1459LysfsTer8
NM_001363528.1:c.4347_4348del	NP_001350457.1:p.Asn1449LysfsTer8
NM_021055.2:c.4416_4417del	NP_066399.2:p.Asn1472LysfsTer8
XM_005255531.4:c.4347_4348del	XP_005255588.2:p.Asn1449LysfsTer8
XM_011522636.2:c.4599_4600del	XP_011520938.1:p.Asn1533LysfsTer8
XM_011522637.2:c.4596_4597del	XP_011520939.1:p.Asn1532LysfsTer8
XM_011522638.2:c.4761_4762del	XP_011520940.2:p.Asn1587LysfsTer8
XM_011522639.2:c.4470_4471del	XP_011520941.1:p.Asn1490LysfsTer8
XM_011522640.2:c.4467_4468del	XP_011520942.1:p.Asn1489LysfsTer8
XM_017023615.1:c.4542_4543del	XP_016879104.1:p.Asn1514LysfsTer8
XM_017023616.1:c.4413_4414del	XP_016879105.1:p.Asn1471LysfsTer8
XM_017023617.1:c.4509_4510del	XP_016879106.1:p.Asn1503LysfsTer8
XM_017023618.1:c.3255_3256del	XP_016879107.1:p.Asn1085LysfsTer8
XM_024450413.1:c.4344_4345del	XP_024306181.1:p.Asn1448LysfsTer8
NM_000548.5:c.4545_4546del MANE Select	NP_000539.2:p.Asn1515LysfsTer8
NM_001370404.1:c.4413_4414del	NP_001357333.1:p.Asn1471LysfsTer8
NM_001370405.1:c.4416_4417del	NP_001357334.1:p.Asn1472LysfsTer8
NM_001077183.3:c.4344_4345del	NP_001070651.1:p.Asn1448LysfsTer8
NM_001114382.3:c.4476_4477del	NP_001107854.1:p.Asn1492LysfsTer8
NM_001318827.2:c.4236_4237del	NP_001305756.1:p.Asn1412LysfsTer8
NM_001318829.2:c.4200_4201del	NP_001305758.1:p.Asn1400LysfsTer8
NM_001318831.2:c.3813_3814del	NP_001305760.1:p.Asn1271LysfsTer8
NM_001318832.2:c.4377_4378del	NP_001305761.1:p.Asn1459LysfsTer8
NM_001363528.2:c.4347_4348del	NP_001350457.1:p.Asn1449LysfsTer8
NM_021055.3:c.4416_4417del	NP_066399.2:p.Asn1472LysfsTer8