Canonical Allele Identifier: CA1139664288

Gene: TSC2

Linked Data

• ClinVar Variation Id: 962721
• ClinVar RCV Id: RCV001236628
• dbSNP Id: rs2090630615

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085297_2085320del , CM000678.2:g.2085297_2085320del	GRCh38
NC_000016.9:g.2135298_2135321del , CM000678.1:g.2135298_2135321del	GRCh37
NC_000016.8:g.2075299_2075322del	NCBI36
NG_005895.1:g.40992_41015del , LRG_487:g.40992_41015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2986_*3009del	ENSP00000455997.2:n.*2986_*3009del
ENST00000642206.2:c.4484_4507del	ENSP00000495146.2:p.Ala1495_Gln1503delinsGlu
ENST00000642365.2:c.4634_4657del	ENSP00000495459.2:p.Ala1545_Gln1553delinsGlu
ENST00000644417.2:c.*5017_*5040del	ENSP00000493912.2:n.*5017_*5040del
ENST00000646464.2:c.*7386_*7409del	ENSP00000496610.2:n.*7386_*7409del
ENST00000219476.9:c.4637_4660del MANE Select	ENSP00000219476.3:p.Ala1546_Gln1554delinsGlu
ENST00000350773.9:c.4568_4591del	ENSP00000344383.4:p.Ala1523_Gln1531delinsGlu
ENST00000401874.7:c.4436_4459del	ENSP00000384468.2:p.Ala1479_Gln1487delinsGlu
ENST00000568454.6:c.4469_4492del	ENSP00000454487.1:p.Ala1490_Gln1498delinsGlu
ENST00000569110.2:c.860_883del
ENST00000569930.2:n.2519_2542del
ENST00000642365.1:c.3291_3314del
ENST00000642561.1:c.4508_4531del	ENSP00000495099.1:p.Ala1503_Gln1511delinsGlu
ENST00000642728.1:n.819_842del
ENST00000642791.1:n.234_257del
ENST00000642797.1:c.4439_4462del	ENSP00000493846.1:p.Ala1480_Gln1488delinsGlu
ENST00000642936.1:c.4505_4528del	ENSP00000494514.1:p.Ala1502_Gln1510delinsGlu
ENST00000643088.1:c.4430_4453del	ENSP00000494747.1:p.Ala1477_Gln1485delinsGlu
ENST00000643177.1:n.651_674del
ENST00000643426.1:n.2285_2308del
ENST00000643946.1:c.4562_4585del	ENSP00000495927.1:p.Ala1521_Gln1529delinsGlu
ENST00000644043.1:c.4508_4531del	ENSP00000496262.1:p.Ala1503_Gln1511delinsGlu
ENST00000644278.1:n.119_142del
ENST00000644329.1:c.4436_4459del	ENSP00000496611.1:p.Ala1479_Gln1487delinsGlu
ENST00000644335.1:c.4433_4456del	ENSP00000496317.1:p.Ala1478_Gln1486delinsGlu
ENST00000644399.1:c.4558_4581del
ENST00000645024.1:n.2721_2744del
ENST00000646388.1:c.4631_4654del	ENSP00000495921.1:p.Ala1544_Gln1552delinsGlu
ENST00000646634.1:n.3452_3475del
ENST00000646674.1:n.1889_1912del
ENST00000647042.1:n.1860_1883del
ENST00000647180.1:n.1750_1773del
ENST00000219476.7:c.4637_4660del	ENSP00000219476.3:p.Ala1546_Gln1554delinsGlu
ENST00000350773.8:c.4568_4591del	ENSP00000344383.4:p.Ala1523_Gln1531delinsGlu
ENST00000382538.10:c.4292_4315del	ENSP00000371978.6:p.Ala1431_Gln1439delinsGlu
ENST00000401874.6:c.4436_4459del	ENSP00000384468.2:p.Ala1479_Gln1487delinsGlu
ENST00000439117.6:c.*3804_*3827del	ENSP00000406980.2:n.*3804_*3827del
ENST00000439673.6:c.4328_4351del	ENSP00000399232.2:p.Ala1443_Gln1451delinsGlu
ENST00000497886.5:n.2395_2418del
ENST00000568454.5:c.4469_4492del	ENSP00000454487.1:p.Ala1490_Gln1498delinsGlu
ENST00000569110.1:c.819_842del
ENST00000569930.1:n.1752_1775del
NM_000548.3:c.4637_4660del , LRG_487t1:c.4637_4660del	NP_000539.2:p.Ala1546_Gln1554delinsGlu
NM_001077183.1:c.4436_4459del	NP_001070651.1:p.Ala1479_Gln1487delinsGlu
NM_001114382.1:c.4568_4591del	NP_001107854.1:p.Ala1523_Gln1531delinsGlu
XM_005255529.3:c.4508_4531del	XP_005255586.2:p.Ala1503_Gln1511delinsGlu
XM_005255531.3:c.4439_4462del	XP_005255588.2:p.Ala1480_Gln1488delinsGlu
XM_011522636.1:c.4691_4714del	XP_011520938.1:p.Ala1564_Gln1572delinsGlu
XM_011522637.1:c.4688_4711del	XP_011520939.1:p.Ala1563_Gln1571delinsGlu
XM_011522638.1:c.4580_4603del	XP_011520940.1:p.Ala1527_Gln1535delinsGlu
XM_011522639.1:c.4562_4585del	XP_011520941.1:p.Ala1521_Gln1529delinsGlu
XM_011522640.1:c.4559_4582del	XP_011520942.1:p.Ala1520_Gln1528delinsGlu
XM_011522641.1:c.4328_4351del	XP_011520943.1:p.Ala1443_Gln1451delinsGlu
NM_000548.4:c.4637_4660del	NP_000539.2:p.Ala1546_Gln1554delinsGlu
NM_001077183.2:c.4436_4459del	NP_001070651.1:p.Ala1479_Gln1487delinsGlu
NM_001114382.2:c.4568_4591del	NP_001107854.1:p.Ala1523_Gln1531delinsGlu
NM_001318827.1:c.4328_4351del	NP_001305756.1:p.Ala1443_Gln1451delinsGlu
NM_001318829.1:c.4292_4315del	NP_001305758.1:p.Ala1431_Gln1439delinsGlu
NM_001318831.1:c.3905_3928del	NP_001305760.1:p.Ala1302_Gln1310delinsGlu
NM_001318832.1:c.4469_4492del	NP_001305761.1:p.Ala1490_Gln1498delinsGlu
NM_001363528.1:c.4439_4462del	NP_001350457.1:p.Ala1480_Gln1488delinsGlu
NM_021055.2:c.4508_4531del	NP_066399.2:p.Ala1503_Gln1511delinsGlu
XM_005255531.4:c.4439_4462del	XP_005255588.2:p.Ala1480_Gln1488delinsGlu
XM_011522636.2:c.4691_4714del	XP_011520938.1:p.Ala1564_Gln1572delinsGlu
XM_011522637.2:c.4688_4711del	XP_011520939.1:p.Ala1563_Gln1571delinsGlu
XM_011522638.2:c.4853_4876del	XP_011520940.2:p.Ala1618_Gln1626delinsGlu
XM_011522639.2:c.4562_4585del	XP_011520941.1:p.Ala1521_Gln1529delinsGlu
XM_011522640.2:c.4559_4582del	XP_011520942.1:p.Ala1520_Gln1528delinsGlu
XM_017023615.1:c.4634_4657del	XP_016879104.1:p.Ala1545_Gln1553delinsGlu
XM_017023616.1:c.4505_4528del	XP_016879105.1:p.Ala1502_Gln1510delinsGlu
XM_017023617.1:c.4601_4624del	XP_016879106.1:p.Ala1534_Gln1542delinsGlu
XM_017023618.1:c.3347_3370del	XP_016879107.1:p.Ala1116_Gln1124delinsGlu
XM_024450413.1:c.4436_4459del	XP_024306181.1:p.Ala1479_Gln1487delinsGlu
NM_000548.5:c.4637_4660del MANE Select	NP_000539.2:p.Ala1546_Gln1554delinsGlu
NM_001370404.1:c.4505_4528del	NP_001357333.1:p.Ala1502_Gln1510delinsGlu
NM_001370405.1:c.4508_4531del	NP_001357334.1:p.Ala1503_Gln1511delinsGlu
NM_001077183.3:c.4436_4459del	NP_001070651.1:p.Ala1479_Gln1487delinsGlu
NM_001114382.3:c.4568_4591del	NP_001107854.1:p.Ala1523_Gln1531delinsGlu
NM_001318827.2:c.4328_4351del	NP_001305756.1:p.Ala1443_Gln1451delinsGlu
NM_001318829.2:c.4292_4315del	NP_001305758.1:p.Ala1431_Gln1439delinsGlu
NM_001318831.2:c.3905_3928del	NP_001305760.1:p.Ala1302_Gln1310delinsGlu
NM_001318832.2:c.4469_4492del	NP_001305761.1:p.Ala1490_Gln1498delinsGlu
NM_001363528.2:c.4439_4462del	NP_001350457.1:p.Ala1480_Gln1488delinsGlu
NM_021055.3:c.4508_4531del	NP_066399.2:p.Ala1503_Gln1511delinsGlu