Canonical Allele Identifier: CA2695222033

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084959del , CM000678.2:g.2084959del	GRCh38
NC_000016.9:g.2134960del , CM000678.1:g.2134960del	GRCh37
NC_000016.8:g.2074961del	NCBI36
NG_005895.1:g.40654del , LRG_487:g.40654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2851del	ENSP00000455997.2:n.*2851del
ENST00000642206.2:c.4349del	ENSP00000495146.2:p.Phe1450SerfsTer?
ENST00000642365.2:c.4499del	ENSP00000495459.2:p.Phe1500SerfsTer?
ENST00000644417.2:c.*4882del	ENSP00000493912.2:n.*4882del
ENST00000646464.2:c.*7251del	ENSP00000496610.2:n.*7251del
ENST00000219476.9:c.4502del MANE Select	ENSP00000219476.3:p.Phe1501SerfsTer?
ENST00000350773.9:c.4433del	ENSP00000344383.4:p.Phe1478SerfsTer?
ENST00000401874.7:c.4301del	ENSP00000384468.2:p.Phe1434SerfsTer?
ENST00000568454.6:c.4334del	ENSP00000454487.1:p.Phe1445SerfsTer?
ENST00000569110.2:c.725del
ENST00000569930.2:n.2384del
ENST00000642365.1:c.3156del
ENST00000642561.1:c.4373del	ENSP00000495099.1:p.Phe1458SerfsTer?
ENST00000642728.1:n.684del
ENST00000642797.1:c.4304del	ENSP00000493846.1:p.Phe1435SerfsTer?
ENST00000642936.1:c.4370del	ENSP00000494514.1:p.Phe1457SerfsTer?
ENST00000643088.1:c.4301del	ENSP00000494747.1:p.Phe1434SerfsTer?
ENST00000643177.1:n.516del
ENST00000643426.1:n.2150del
ENST00000643946.1:c.4433del	ENSP00000495927.1:p.Phe1478SerfsTer?
ENST00000644043.1:c.4373del	ENSP00000496262.1:p.Phe1458SerfsTer?
ENST00000644329.1:c.4301del	ENSP00000496611.1:p.Phe1434SerfsTer?
ENST00000644335.1:c.4304del	ENSP00000496317.1:p.Phe1435SerfsTer?
ENST00000644399.1:c.4423del
ENST00000645024.1:n.2586del
ENST00000646388.1:c.4502del	ENSP00000495921.1:p.Phe1501SerfsTer?
ENST00000646634.1:n.3317del
ENST00000646674.1:n.1754del
ENST00000647042.1:n.1725del
ENST00000647180.1:n.1615del
ENST00000219476.7:c.4502del	ENSP00000219476.3:p.Phe1501SerfsTer?
ENST00000350773.8:c.4433del	ENSP00000344383.4:p.Phe1478SerfsTer?
ENST00000382538.10:c.4157del	ENSP00000371978.6:p.Phe1386SerfsTer?
ENST00000401874.6:c.4301del	ENSP00000384468.2:p.Phe1434SerfsTer?
ENST00000439117.6:c.*3669del	ENSP00000406980.2:n.*3669del
ENST00000439673.6:c.4193del	ENSP00000399232.2:p.Phe1398SerfsTer?
ENST00000497886.5:n.2260del
ENST00000568454.5:c.4334del	ENSP00000454487.1:p.Phe1445SerfsTer?
ENST00000569110.1:c.684del
ENST00000569930.1:n.1617del
NM_000548.3:c.4502del , LRG_487t1:c.4502del	NP_000539.2:p.Phe1501SerfsTer?
NM_001077183.1:c.4301del	NP_001070651.1:p.Phe1434SerfsTer?
NM_001114382.1:c.4433del	NP_001107854.1:p.Phe1478SerfsTer?
XM_005255529.3:c.4373del	XP_005255586.2:p.Phe1458SerfsTer?
XM_005255531.3:c.4304del	XP_005255588.2:p.Phe1435SerfsTer?
XM_011522636.1:c.4556del	XP_011520938.1:p.Phe1519SerfsTer?
XM_011522637.1:c.4553del	XP_011520939.1:p.Phe1518SerfsTer?
XM_011522638.1:c.4445del	XP_011520940.1:p.Phe1482SerfsTer?
XM_011522639.1:c.4427del	XP_011520941.1:p.Phe1476SerfsTer?
XM_011522640.1:c.4424del	XP_011520942.1:p.Phe1475SerfsTer?
XM_011522641.1:c.4193del	XP_011520943.1:p.Phe1398SerfsTer?
NM_000548.4:c.4502del	NP_000539.2:p.Phe1501SerfsTer?
NM_001077183.2:c.4301del	NP_001070651.1:p.Phe1434SerfsTer?
NM_001114382.2:c.4433del	NP_001107854.1:p.Phe1478SerfsTer?
NM_001318827.1:c.4193del	NP_001305756.1:p.Phe1398SerfsTer?
NM_001318829.1:c.4157del	NP_001305758.1:p.Phe1386SerfsTer?
NM_001318831.1:c.3770del	NP_001305760.1:p.Phe1257SerfsTer?
NM_001318832.1:c.4334del	NP_001305761.1:p.Phe1445SerfsTer?
NM_001363528.1:c.4304del	NP_001350457.1:p.Phe1435SerfsTer?
NM_021055.2:c.4373del	NP_066399.2:p.Phe1458SerfsTer?
XM_005255531.4:c.4304del	XP_005255588.2:p.Phe1435SerfsTer?
XM_011522636.2:c.4556del	XP_011520938.1:p.Phe1519SerfsTer?
XM_011522637.2:c.4553del	XP_011520939.1:p.Phe1518SerfsTer?
XM_011522638.2:c.4718del	XP_011520940.2:p.Phe1573SerfsTer?
XM_011522639.2:c.4427del	XP_011520941.1:p.Phe1476SerfsTer?
XM_011522640.2:c.4424del	XP_011520942.1:p.Phe1475SerfsTer?
XM_017023615.1:c.4499del	XP_016879104.1:p.Phe1500SerfsTer?
XM_017023616.1:c.4370del	XP_016879105.1:p.Phe1457SerfsTer?
XM_017023617.1:c.4466del	XP_016879106.1:p.Phe1489SerfsTer?
XM_017023618.1:c.3212del	XP_016879107.1:p.Phe1071SerfsTer?
XM_024450413.1:c.4301del	XP_024306181.1:p.Phe1434SerfsTer?
NM_000548.5:c.4502del MANE Select	NP_000539.2:p.Phe1501SerfsTer?
NM_001370404.1:c.4370del	NP_001357333.1:p.Phe1457SerfsTer?
NM_001370405.1:c.4373del	NP_001357334.1:p.Phe1458SerfsTer?
NM_001077183.3:c.4301del	NP_001070651.1:p.Phe1434SerfsTer?
NM_001114382.3:c.4433del	NP_001107854.1:p.Phe1478SerfsTer?
NM_001318827.2:c.4193del	NP_001305756.1:p.Phe1398SerfsTer?
NM_001318829.2:c.4157del	NP_001305758.1:p.Phe1386SerfsTer?
NM_001318831.2:c.3770del	NP_001305760.1:p.Phe1257SerfsTer?
NM_001318832.2:c.4334del	NP_001305761.1:p.Phe1445SerfsTer?
NM_001363528.2:c.4304del	NP_001350457.1:p.Phe1435SerfsTer?
NM_021055.3:c.4373del	NP_066399.2:p.Phe1458SerfsTer?