Canonical Allele Identifier: CA2202019510
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085296_2085320delinsGCCGTCCTGTATGTTGGAGAAGGCC , CM000678.2:g.2085296_2085320delinsGCCGTCCTGTATGTTGGAGAAGGCC GRCh38
NC_000016.9:g.2135297_2135321delinsGCCGTCCTGTATGTTGGAGAAGGCC , CM000678.1:g.2135297_2135321delinsGCCGTCCTGTATGTTGGAGAAGGCC GRCh37
NC_000016.8:g.2075298_2075322delinsGCCGTCCTGTATGTTGGAGAAGGCC NCBI36
NG_005895.1:g.40991_41015delinsGCCGTCCTGTATGTTGGAGAAGGCC , LRG_487:g.40991_41015delinsGCCGTCCTGTATGTTGGAGAAGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2985_*3009delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000455997.2:n.*2985_*3009delinsGCCGTCCTGTATGTTGGAGAAGGC...
ENST00000642206.2:c.4483_4507delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000495146.2:p.Ala1495=
ENST00000642365.2:c.4633_4657delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000495459.2:p.Ala1545=
ENST00000644417.2:c.*5016_*5040delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000493912.2:n.*5016_*5040delinsGCCGTCCTGTATGTTGGAGAAGGC...
ENST00000646464.2:c.*7385_*7409delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000496610.2:n.*7385_*7409delinsGCCGTCCTGTATGTTGGAGAAGGC...
ENST00000219476.9:c.4636_4660delinsGCCGTCCTGTATGTTGGAGAAGGCC MANE Select ENSP00000219476.3:p.Ala1546=
ENST00000350773.9:c.4567_4591delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000344383.4:p.Ala1523=
ENST00000401874.7:c.4435_4459delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000384468.2:p.Ala1479=
ENST00000568454.6:c.4468_4492delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000454487.1:p.Ala1490=
ENST00000569110.2:c.859_883delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000569930.2:n.2518_2542delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000642365.1:c.3290_3314delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000642561.1:c.4507_4531delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000495099.1:p.Ala1503=
ENST00000642728.1:n.818_842delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000642791.1:n.233_257delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000642797.1:c.4438_4462delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000493846.1:p.Ala1480=
ENST00000642936.1:c.4504_4528delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000494514.1:p.Ala1502=
ENST00000643088.1:c.4429_4453delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000494747.1:p.Ala1477=
ENST00000643177.1:n.650_674delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000643426.1:n.2284_2308delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000643946.1:c.4561_4585delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000495927.1:p.Ala1521=
ENST00000644043.1:c.4507_4531delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000496262.1:p.Ala1503=
ENST00000644278.1:n.118_142delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000644329.1:c.4435_4459delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000496611.1:p.Ala1479=
ENST00000644335.1:c.4432_4456delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000496317.1:p.Ala1478=
ENST00000644399.1:c.4557_4581delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000645024.1:n.2720_2744delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000646388.1:c.4630_4654delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000495921.1:p.Ala1544=
ENST00000646634.1:n.3451_3475delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000646674.1:n.1888_1912delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000647042.1:n.1859_1883delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000647180.1:n.1749_1773delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000219476.7:c.4636_4660delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000219476.3:p.Ala1546=
ENST00000350773.8:c.4567_4591delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000344383.4:p.Ala1523=
ENST00000382538.10:c.4291_4315delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000371978.6:p.Ala1431=
ENST00000401874.6:c.4435_4459delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000384468.2:p.Ala1479=
ENST00000439117.6:c.*3803_*3827delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000406980.2:n.*3803_*3827delinsGCCGTCCTGTATGTTGGAGAAGGC...
ENST00000439673.6:c.4327_4351delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000399232.2:p.Ala1443=
ENST00000497886.5:n.2394_2418delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000568454.5:c.4468_4492delinsGCCGTCCTGTATGTTGGAGAAGGCC ENSP00000454487.1:p.Ala1490=
ENST00000569110.1:c.818_842delinsGCCGTCCTGTATGTTGGAGAAGGCC
ENST00000569930.1:n.1751_1775delinsGCCGTCCTGTATGTTGGAGAAGGCC
NM_000548.3:c.4636_4660delinsGCCGTCCTGTATGTTGGAGAAGGCC , LRG_487t1:c.4636_4660delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_000539.2:p.Ala1546=
NM_001077183.1:c.4435_4459delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001070651.1:p.Ala1479=
NM_001114382.1:c.4567_4591delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001107854.1:p.Ala1523=
XM_005255529.3:c.4507_4531delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_005255586.2:p.Ala1503=
XM_005255531.3:c.4438_4462delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_005255588.2:p.Ala1480=
XM_011522636.1:c.4690_4714delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520938.1:p.Ala1564=
XM_011522637.1:c.4687_4711delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520939.1:p.Ala1563=
XM_011522638.1:c.4579_4603delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520940.1:p.Ala1527=
XM_011522639.1:c.4561_4585delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520941.1:p.Ala1521=
XM_011522640.1:c.4558_4582delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520942.1:p.Ala1520=
XM_011522641.1:c.4327_4351delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520943.1:p.Ala1443=
NM_000548.4:c.4636_4660delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_000539.2:p.Ala1546=
NM_001077183.2:c.4435_4459delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001070651.1:p.Ala1479=
NM_001114382.2:c.4567_4591delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001107854.1:p.Ala1523=
NM_001318827.1:c.4327_4351delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001305756.1:p.Ala1443=
NM_001318829.1:c.4291_4315delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001305758.1:p.Ala1431=
NM_001318831.1:c.3904_3928delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001305760.1:p.Ala1302=
NM_001318832.1:c.4468_4492delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001305761.1:p.Ala1490=
NM_001363528.1:c.4438_4462delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001350457.1:p.Ala1480=
NM_021055.2:c.4507_4531delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_066399.2:p.Ala1503=
XM_005255531.4:c.4438_4462delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_005255588.2:p.Ala1480=
XM_011522636.2:c.4690_4714delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520938.1:p.Ala1564=
XM_011522637.2:c.4687_4711delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520939.1:p.Ala1563=
XM_011522638.2:c.4852_4876delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520940.2:p.Ala1618=
XM_011522639.2:c.4561_4585delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520941.1:p.Ala1521=
XM_011522640.2:c.4558_4582delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_011520942.1:p.Ala1520=
XM_017023615.1:c.4633_4657delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_016879104.1:p.Ala1545=
XM_017023616.1:c.4504_4528delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_016879105.1:p.Ala1502=
XM_017023617.1:c.4600_4624delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_016879106.1:p.Ala1534=
XM_017023618.1:c.3346_3370delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_016879107.1:p.Ala1116=
XM_024450413.1:c.4435_4459delinsGCCGTCCTGTATGTTGGAGAAGGCC XP_024306181.1:p.Ala1479=
NM_000548.5:c.4636_4660delinsGCCGTCCTGTATGTTGGAGAAGGCC MANE Select NP_000539.2:p.Ala1546=
NM_001370404.1:c.4504_4528delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001357333.1:p.Ala1502=
NM_001370405.1:c.4507_4531delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001357334.1:p.Ala1503=
NM_001077183.3:c.4435_4459delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001070651.1:p.Ala1479=
NM_001114382.3:c.4567_4591delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001107854.1:p.Ala1523=
NM_001318827.2:c.4327_4351delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001305756.1:p.Ala1443=
NM_001318829.2:c.4291_4315delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001305758.1:p.Ala1431=
NM_001318831.2:c.3904_3928delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001305760.1:p.Ala1302=
NM_001318832.2:c.4468_4492delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001305761.1:p.Ala1490=
NM_001363528.2:c.4438_4462delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_001350457.1:p.Ala1480=
NM_021055.3:c.4507_4531delinsGCCGTCCTGTATGTTGGAGAAGGCC NP_066399.2:p.Ala1503=