Canonical Allele Identifier: CA3054201960

Gene: TSC2

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084513_2084624del , CM000678.2:g.2084513_2084624del	GRCh38
NC_000016.9:g.2134514_2134625del , CM000678.1:g.2134514_2134625del	GRCh37
NC_000016.8:g.2074515_2074626del	NCBI36
NG_005895.1:g.40208_40319del , LRG_487:g.40208_40319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2640_*2751del	ENSP00000455997.2:n.*2640_*2751del
ENST00000642206.2:c.4138_4249del	ENSP00000495146.2:p.Ser1380HisfsTer8
ENST00000642365.2:c.4288_4399del	ENSP00000495459.2:p.Ser1430HisfsTer8
ENST00000644417.2:c.*4671_*4782del	ENSP00000493912.2:n.*4671_*4782del
ENST00000646464.2:c.*7040_*7151del	ENSP00000496610.2:n.*7040_*7151del
ENST00000219476.9:c.4291_4402del MANE Select	ENSP00000219476.3:p.Ser1431HisfsTer8
ENST00000350773.9:c.4222_4333del	ENSP00000344383.4:p.Ser1408HisfsTer8
ENST00000401874.7:c.4090_4201del	ENSP00000384468.2:p.Ser1364HisfsTer8
ENST00000568454.6:c.4123_4234del	ENSP00000454487.1:p.Ser1375HisfsTer8
ENST00000569110.2:c.527_638del
ENST00000569930.2:n.2173_2284del
ENST00000642365.1:c.2945_3056del
ENST00000642561.1:c.4162_4273del	ENSP00000495099.1:p.Ser1388HisfsTer8
ENST00000642728.1:n.473_584del
ENST00000642797.1:c.4093_4204del	ENSP00000493846.1:p.Ser1365HisfsTer8
ENST00000642936.1:c.4159_4270del	ENSP00000494514.1:p.Ser1387HisfsTer8
ENST00000643088.1:c.4090_4201del	ENSP00000494747.1:p.Ser1364HisfsTer8
ENST00000643177.1:n.305_416del
ENST00000643426.1:n.1939_2050del
ENST00000643946.1:c.4222_4333del	ENSP00000495927.1:p.Ser1408HisfsTer8
ENST00000644043.1:c.4162_4273del	ENSP00000496262.1:p.Ser1388HisfsTer8
ENST00000644329.1:c.4090_4201del	ENSP00000496611.1:p.Ser1364HisfsTer8
ENST00000644335.1:c.4093_4204del	ENSP00000496317.1:p.Ser1365HisfsTer8
ENST00000644399.1:c.4212_4323del
ENST00000645024.1:n.2375_2486del
ENST00000646388.1:c.4291_4402del	ENSP00000495921.1:p.Ser1431HisfsTer8
ENST00000646634.1:n.3106_3217del
ENST00000646674.1:n.1543_1654del
ENST00000647042.1:n.1514_1625del
ENST00000647180.1:n.1404_1515del
ENST00000219476.7:c.4291_4402del	ENSP00000219476.3:p.Ser1431HisfsTer8
ENST00000350773.8:c.4222_4333del	ENSP00000344383.4:p.Ser1408HisfsTer8
ENST00000382538.10:c.3946_4057del	ENSP00000371978.6:p.Ser1316HisfsTer8
ENST00000401874.6:c.4090_4201del	ENSP00000384468.2:p.Ser1364HisfsTer8
ENST00000439117.6:c.*3458_*3569del	ENSP00000406980.2:n.*3458_*3569del
ENST00000439673.6:c.3982_4093del	ENSP00000399232.2:p.Ser1328HisfsTer8
ENST00000497886.5:n.2049_2160del
ENST00000568454.5:c.4123_4234del	ENSP00000454487.1:p.Ser1375HisfsTer8
ENST00000569110.1:c.473_584del
ENST00000569930.1:n.1406_1517del
NM_000548.3:c.4291_4402del , LRG_487t1:c.4291_4402del	NP_000539.2:p.Ser1431HisfsTer8
NM_001077183.1:c.4090_4201del	NP_001070651.1:p.Ser1364HisfsTer8
NM_001114382.1:c.4222_4333del	NP_001107854.1:p.Ser1408HisfsTer8
XM_005255529.3:c.4162_4273del	XP_005255586.2:p.Ser1388HisfsTer8
XM_005255531.3:c.4093_4204del	XP_005255588.2:p.Ser1365HisfsTer8
XM_011522636.1:c.4345_4456del	XP_011520938.1:p.Ser1449HisfsTer8
XM_011522637.1:c.4342_4453del	XP_011520939.1:p.Ser1448HisfsTer8
XM_011522638.1:c.4234_4345del	XP_011520940.1:p.Ser1412HisfsTer8
XM_011522639.1:c.4216_4327del	XP_011520941.1:p.Ser1406HisfsTer8
XM_011522640.1:c.4213_4324del	XP_011520942.1:p.Ser1405HisfsTer8
XM_011522641.1:c.3982_4093del	XP_011520943.1:p.Ser1328HisfsTer8
NM_000548.4:c.4291_4402del	NP_000539.2:p.Ser1431HisfsTer8
NM_001077183.2:c.4090_4201del	NP_001070651.1:p.Ser1364HisfsTer8
NM_001114382.2:c.4222_4333del	NP_001107854.1:p.Ser1408HisfsTer8
NM_001318827.1:c.3982_4093del	NP_001305756.1:p.Ser1328HisfsTer8
NM_001318829.1:c.3946_4057del	NP_001305758.1:p.Ser1316HisfsTer8
NM_001318831.1:c.3559_3670del	NP_001305760.1:p.Ser1187HisfsTer8
NM_001318832.1:c.4123_4234del	NP_001305761.1:p.Ser1375HisfsTer8
NM_001363528.1:c.4093_4204del	NP_001350457.1:p.Ser1365HisfsTer8
NM_021055.2:c.4162_4273del	NP_066399.2:p.Ser1388HisfsTer8
XM_005255531.4:c.4093_4204del	XP_005255588.2:p.Ser1365HisfsTer8
XM_011522636.2:c.4345_4456del	XP_011520938.1:p.Ser1449HisfsTer8
XM_011522637.2:c.4342_4453del	XP_011520939.1:p.Ser1448HisfsTer8
XM_011522638.2:c.4507_4618del	XP_011520940.2:p.Ser1503HisfsTer8
XM_011522639.2:c.4216_4327del	XP_011520941.1:p.Ser1406HisfsTer8
XM_011522640.2:c.4213_4324del	XP_011520942.1:p.Ser1405HisfsTer8
XM_017023615.1:c.4288_4399del	XP_016879104.1:p.Ser1430HisfsTer8
XM_017023616.1:c.4159_4270del	XP_016879105.1:p.Ser1387HisfsTer8
XM_017023617.1:c.4255_4366del	XP_016879106.1:p.Ser1419HisfsTer8
XM_017023618.1:c.3001_3112del	XP_016879107.1:p.Ser1001HisfsTer8
XM_024450413.1:c.4090_4201del	XP_024306181.1:p.Ser1364HisfsTer8
NM_000548.5:c.4291_4402del MANE Select	NP_000539.2:p.Ser1431HisfsTer8
NM_001370404.1:c.4159_4270del	NP_001357333.1:p.Ser1387HisfsTer8
NM_001370405.1:c.4162_4273del	NP_001357334.1:p.Ser1388HisfsTer8
NM_001077183.3:c.4090_4201del	NP_001070651.1:p.Ser1364HisfsTer8
NM_001114382.3:c.4222_4333del	NP_001107854.1:p.Ser1408HisfsTer8
NM_001318827.2:c.3982_4093del	NP_001305756.1:p.Ser1328HisfsTer8
NM_001318829.2:c.3946_4057del	NP_001305758.1:p.Ser1316HisfsTer8
NM_001318831.2:c.3559_3670del	NP_001305760.1:p.Ser1187HisfsTer8
NM_001318832.2:c.4123_4234del	NP_001305761.1:p.Ser1375HisfsTer8
NM_001363528.2:c.4093_4204del	NP_001350457.1:p.Ser1365HisfsTer8
NM_021055.3:c.4162_4273del	NP_066399.2:p.Ser1388HisfsTer8