Canonical Allele Identifier: CA2805573900

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088250_2088256del , CM000678.2:g.2088250_2088256del	GRCh38
NC_000016.9:g.2138251_2138257del , CM000678.1:g.2138251_2138257del	GRCh37
NC_000016.8:g.2078252_2078258del	NCBI36
NG_005895.1:g.43945_43951del , LRG_487:g.43945_43951del
NG_008617.1:g.54965_54971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3533_*3539del	ENSP00000455997.2:n.*3533_*3539del
ENST00000642206.2:c.5031_5037del	ENSP00000495146.2:p.Ser1677ArgfsTer?
ENST00000642365.2:c.5181_5187del	ENSP00000495459.2:p.Ser1727ArgfsTer?
ENST00000644417.2:c.*5697_*5703del	ENSP00000493912.2:n.*5697_*5703del
ENST00000646464.2:c.*7933_*7939del	ENSP00000496610.2:n.*7933_*7939del
ENST00000219476.9:c.5184_5190del MANE Select	ENSP00000219476.3:p.Ser1728ArgfsTer?
ENST00000350773.9:c.5115_5121del	ENSP00000344383.4:p.Ser1705ArgfsTer?
ENST00000401874.7:c.4983_4989del	ENSP00000384468.2:p.Ser1661ArgfsTer?
ENST00000568454.6:c.5016_5022del	ENSP00000454487.1:p.Ser1672ArgfsTer?
ENST00000569110.2:c.1407_1413del
ENST00000569930.2:n.3066_3072del
ENST00000642365.1:c.3838_3844del
ENST00000642561.1:c.5043_5049del	ENSP00000495099.1:p.Ser1681ArgfsTer?
ENST00000642791.1:n.781_787del
ENST00000642797.1:c.4986_4992del	ENSP00000493846.1:p.Ser1662ArgfsTer?
ENST00000642936.1:c.5052_5058del	ENSP00000494514.1:p.Ser1684ArgfsTer?
ENST00000643088.1:c.4977_4983del	ENSP00000494747.1:p.Ser1659ArgfsTer?
ENST00000643426.1:n.2832_2838del
ENST00000643946.1:c.5109_5115del	ENSP00000495927.1:p.Ser1703ArgfsTer?
ENST00000644043.1:c.5055_5061del	ENSP00000496262.1:p.Ser1685ArgfsTer?
ENST00000644329.1:c.5070_5076del	ENSP00000496611.1:p.Ser1690ArgfsTer?
ENST00000644335.1:c.4980_4986del	ENSP00000496317.1:p.Ser1660ArgfsTer?
ENST00000644399.1:c.5105_5111del
ENST00000645024.1:n.3268_3274del
ENST00000646388.1:c.5178_5184del	ENSP00000495921.1:p.Ser1726ArgfsTer?
ENST00000646634.1:n.3999_4005del
ENST00000646674.1:n.2436_2442del
ENST00000647042.1:n.2407_2413del
ENST00000647180.1:n.2297_2303del
ENST00000219476.7:c.5184_5190del	ENSP00000219476.3:p.Ser1728ArgfsTer?
ENST00000350773.8:c.5115_5121del	ENSP00000344383.4:p.Ser1705ArgfsTer?
ENST00000382538.10:c.4839_4845del	ENSP00000371978.6:p.Ser1613ArgfsTer?
ENST00000401874.6:c.4983_4989del	ENSP00000384468.2:p.Ser1661ArgfsTer?
ENST00000439117.6:c.*4351_*4357del	ENSP00000406980.2:n.*4351_*4357del
ENST00000439673.6:c.4875_4881del	ENSP00000399232.2:p.Ser1625ArgfsTer?
ENST00000497886.5:n.2907_2913del
ENST00000568454.5:c.5016_5022del	ENSP00000454487.1:p.Ser1672ArgfsTer?
ENST00000569110.1:c.1366_1372del
ENST00000569930.1:n.2299_2305del
NM_000548.3:c.5184_5190del , LRG_487t1:c.5184_5190del	NP_000539.2:p.Ser1728ArgfsTer?
NM_001077183.1:c.4983_4989del	NP_001070651.1:p.Ser1661ArgfsTer?
NM_001114382.1:c.5115_5121del	NP_001107854.1:p.Ser1705ArgfsTer?
XM_005255529.3:c.5055_5061del	XP_005255586.2:p.Ser1685ArgfsTer?
XM_005255531.3:c.4986_4992del	XP_005255588.2:p.Ser1662ArgfsTer?
XM_011522636.1:c.5238_5244del	XP_011520938.1:p.Ser1746ArgfsTer?
XM_011522637.1:c.5235_5241del	XP_011520939.1:p.Ser1745ArgfsTer?
XM_011522638.1:c.5127_5133del	XP_011520940.1:p.Ser1709ArgfsTer?
XM_011522639.1:c.5109_5115del	XP_011520941.1:p.Ser1703ArgfsTer?
XM_011522640.1:c.5106_5112del	XP_011520942.1:p.Ser1702ArgfsTer?
XM_011522641.1:c.4875_4881del	XP_011520943.1:p.Ser1625ArgfsTer?
NM_000548.4:c.5184_5190del	NP_000539.2:p.Ser1728ArgfsTer?
NM_001077183.2:c.4983_4989del	NP_001070651.1:p.Ser1661ArgfsTer?
NM_001114382.2:c.5115_5121del	NP_001107854.1:p.Ser1705ArgfsTer?
NM_001318827.1:c.4875_4881del	NP_001305756.1:p.Ser1625ArgfsTer?
NM_001318829.1:c.4839_4845del	NP_001305758.1:p.Ser1613ArgfsTer?
NM_001318831.1:c.4452_4458del	NP_001305760.1:p.Ser1484ArgfsTer?
NM_001318832.1:c.5016_5022del	NP_001305761.1:p.Ser1672ArgfsTer?
NM_001363528.1:c.4986_4992del	NP_001350457.1:p.Ser1662ArgfsTer?
NM_021055.2:c.5055_5061del	NP_066399.2:p.Ser1685ArgfsTer?
XM_005255531.4:c.4986_4992del	XP_005255588.2:p.Ser1662ArgfsTer?
XM_011522636.2:c.5238_5244del	XP_011520938.1:p.Ser1746ArgfsTer?
XM_011522637.2:c.5235_5241del	XP_011520939.1:p.Ser1745ArgfsTer?
XM_011522638.2:c.5400_5406del	XP_011520940.2:p.Ser1800ArgfsTer?
XM_011522639.2:c.5109_5115del	XP_011520941.1:p.Ser1703ArgfsTer?
XM_011522640.2:c.5106_5112del	XP_011520942.1:p.Ser1702ArgfsTer?
XM_017023615.1:c.5181_5187del	XP_016879104.1:p.Ser1727ArgfsTer?
XM_017023616.1:c.5052_5058del	XP_016879105.1:p.Ser1684ArgfsTer?
XM_017023617.1:c.5148_5154del	XP_016879106.1:p.Ser1716ArgfsTer?
XM_017023618.1:c.3894_3900del	XP_016879107.1:p.Ser1298ArgfsTer?
XM_024450413.1:c.5070_5076del	XP_024306181.1:p.Ser1690ArgfsTer?
NM_000548.5:c.5184_5190del MANE Select	NP_000539.2:p.Ser1728ArgfsTer?
NM_001370404.1:c.5052_5058del	NP_001357333.1:p.Ser1684ArgfsTer?
NM_001370405.1:c.5043_5049del	NP_001357334.1:p.Ser1681ArgfsTer?
NM_001077183.3:c.4983_4989del	NP_001070651.1:p.Ser1661ArgfsTer?
NM_001114382.3:c.5115_5121del	NP_001107854.1:p.Ser1705ArgfsTer?
NM_001318827.2:c.4875_4881del	NP_001305756.1:p.Ser1625ArgfsTer?
NM_001318829.2:c.4839_4845del	NP_001305758.1:p.Ser1613ArgfsTer?
NM_001318831.2:c.4452_4458del	NP_001305760.1:p.Ser1484ArgfsTer?
NM_001318832.2:c.5016_5022del	NP_001305761.1:p.Ser1672ArgfsTer?
NM_001363528.2:c.4986_4992del	NP_001350457.1:p.Ser1662ArgfsTer?
NM_021055.3:c.5055_5061del	NP_066399.2:p.Ser1685ArgfsTer?