Canonical Allele Identifier: CA2202018647
Gene: TSC2 HGNC NCBI

Linked Data

dbSNP Id: rs2090603243
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085113_2085129del , CM000678.2:g.2085113_2085129del GRCh38
NC_000016.9:g.2135114_2135130del , CM000678.1:g.2135114_2135130del GRCh37
NC_000016.8:g.2075115_2075131del NCBI36
NG_005895.1:g.40808_40824del , LRG_487:g.40808_40824del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2918+87_*2919-101del ENSP00000455997.2:n.*2918+87_*2919-101del
ENST00000642206.2:c.4416+87_4417-101del ENSP00000495146.2:n.4416+87_4417-101del
ENST00000642365.2:c.4566+87_4567-101del ENSP00000495459.2:n.4566+87_4567-101del
ENST00000644417.2:c.*4949+87_*4950-101del ENSP00000493912.2:n.*4949+87_*4950-101del
ENST00000646464.2:c.*7318+87_*7319-101del ENSP00000496610.2:n.*7318+87_*7319-101del
ENST00000219476.9:c.4569+87_4570-101del MANE Select ENSP00000219476.3:n.4569+87_4570-101del
ENST00000350773.9:c.4500+87_4501-101del ENSP00000344383.4:n.4500+87_4501-101del
ENST00000401874.7:c.4368+87_4369-101del ENSP00000384468.2:n.4368+87_4369-101del
ENST00000568454.6:c.4401+87_4402-101del ENSP00000454487.1:n.4401+87_4402-101del
ENST00000569110.2:c.792+87_793-101del
ENST00000569930.2:n.2451+87_2452-101del
ENST00000642365.1:c.3223+87_3224-101del
ENST00000642561.1:c.4440+87_4441-101del ENSP00000495099.1:n.4440+87_4441-101del
ENST00000642728.1:n.751+87_752-101del
ENST00000642791.1:n.50_66del
ENST00000642797.1:c.4371+87_4372-101del ENSP00000493846.1:n.4371+87_4372-101del
ENST00000642936.1:c.4437+87_4438-101del ENSP00000494514.1:n.4437+87_4438-101del
ENST00000643088.1:c.4368+87_4368+103del ENSP00000494747.1:n.4368+87_4368+103del
ENST00000643177.1:n.583+87_584-101del
ENST00000643426.1:n.2217+87_2218-101del
ENST00000643946.1:c.4500+87_4500+103del ENSP00000495927.1:n.4500+87_4500+103del
ENST00000644043.1:c.4440+87_4441-101del ENSP00000496262.1:n.4440+87_4441-101del
ENST00000644329.1:c.4368+87_4369-101del ENSP00000496611.1:n.4368+87_4369-101del
ENST00000644335.1:c.4371+87_4371+103del ENSP00000496317.1:n.4371+87_4371+103del
ENST00000644399.1:c.4490+87_4491-101del
ENST00000645024.1:n.2653+87_2654-101del
ENST00000646388.1:c.4569+87_4569+103del ENSP00000495921.1:n.4569+87_4569+103del
ENST00000646634.1:n.3384+87_3385-101del
ENST00000646674.1:n.1821+87_1822-101del
ENST00000647042.1:n.1792+87_1793-101del
ENST00000647180.1:n.1682+87_1683-101del
ENST00000219476.7:c.4569+87_4570-101del ENSP00000219476.3:n.4569+87_4570-101del
ENST00000350773.8:c.4500+87_4501-101del ENSP00000344383.4:n.4500+87_4501-101del
ENST00000382538.10:c.4224+87_4225-101del ENSP00000371978.6:n.4224+87_4225-101del
ENST00000401874.6:c.4368+87_4369-101del ENSP00000384468.2:n.4368+87_4369-101del
ENST00000439117.6:c.*3736+87_*3737-101del ENSP00000406980.2:n.*3736+87_*3737-101del
ENST00000439673.6:c.4260+87_4261-101del ENSP00000399232.2:n.4260+87_4261-101del
ENST00000497886.5:n.2327+87_2328-101del
ENST00000568454.5:c.4401+87_4402-101del ENSP00000454487.1:n.4401+87_4402-101del
ENST00000569110.1:c.751+87_752-101del
ENST00000569930.1:n.1684+87_1685-101del
NM_000548.3:c.4569+87_4570-101del , LRG_487t1:c.4569+87_4570-101del NP_000539.2:n.4569+87_4570-101del
NM_001077183.1:c.4368+87_4369-101del NP_001070651.1:n.4368+87_4369-101del
NM_001114382.1:c.4500+87_4501-101del NP_001107854.1:n.4500+87_4501-101del
XM_005255529.3:c.4440+87_4441-101del XP_005255586.2:n.4440+87_4441-101del
XM_005255531.3:c.4371+87_4372-101del XP_005255588.2:n.4371+87_4372-101del
XM_011522636.1:c.4623+87_4624-101del XP_011520938.1:n.4623+87_4624-101del
XM_011522637.1:c.4620+87_4621-101del XP_011520939.1:n.4620+87_4621-101del
XM_011522638.1:c.4512+87_4513-101del XP_011520940.1:n.4512+87_4513-101del
XM_011522639.1:c.4494+87_4495-101del XP_011520941.1:n.4494+87_4495-101del
XM_011522640.1:c.4491+87_4492-101del XP_011520942.1:n.4491+87_4492-101del
XM_011522641.1:c.4260+87_4261-101del XP_011520943.1:n.4260+87_4261-101del
NM_000548.4:c.4569+87_4570-101del NP_000539.2:n.4569+87_4570-101del
NM_001077183.2:c.4368+87_4369-101del NP_001070651.1:n.4368+87_4369-101del
NM_001114382.2:c.4500+87_4501-101del NP_001107854.1:n.4500+87_4501-101del
NM_001318827.1:c.4260+87_4261-101del NP_001305756.1:n.4260+87_4261-101del
NM_001318829.1:c.4224+87_4225-101del NP_001305758.1:n.4224+87_4225-101del
NM_001318831.1:c.3837+87_3838-101del NP_001305760.1:n.3837+87_3838-101del
NM_001318832.1:c.4401+87_4402-101del NP_001305761.1:n.4401+87_4402-101del
NM_001363528.1:c.4371+87_4372-101del NP_001350457.1:n.4371+87_4372-101del
NM_021055.2:c.4440+87_4441-101del NP_066399.2:n.4440+87_4441-101del
XM_005255531.4:c.4371+87_4372-101del XP_005255588.2:n.4371+87_4372-101del
XM_011522636.2:c.4623+87_4624-101del XP_011520938.1:n.4623+87_4624-101del
XM_011522637.2:c.4620+87_4621-101del XP_011520939.1:n.4620+87_4621-101del
XM_011522638.2:c.4785+87_4786-101del XP_011520940.2:n.4785+87_4786-101del
XM_011522639.2:c.4494+87_4495-101del XP_011520941.1:n.4494+87_4495-101del
XM_011522640.2:c.4491+87_4492-101del XP_011520942.1:n.4491+87_4492-101del
XM_017023615.1:c.4566+87_4567-101del XP_016879104.1:n.4566+87_4567-101del
XM_017023616.1:c.4437+87_4438-101del XP_016879105.1:n.4437+87_4438-101del
XM_017023617.1:c.4533+87_4534-101del XP_016879106.1:n.4533+87_4534-101del
XM_017023618.1:c.3279+87_3280-101del XP_016879107.1:n.3279+87_3280-101del
XM_024450413.1:c.4368+87_4369-101del XP_024306181.1:n.4368+87_4369-101del
NM_000548.5:c.4569+87_4570-101del MANE Select NP_000539.2:n.4569+87_4570-101del
NM_001370404.1:c.4437+87_4438-101del NP_001357333.1:n.4437+87_4438-101del
NM_001370405.1:c.4440+87_4441-101del NP_001357334.1:n.4440+87_4441-101del
NM_001077183.3:c.4368+87_4369-101del NP_001070651.1:n.4368+87_4369-101del
NM_001114382.3:c.4500+87_4501-101del NP_001107854.1:n.4500+87_4501-101del
NM_001318827.2:c.4260+87_4261-101del NP_001305756.1:n.4260+87_4261-101del
NM_001318829.2:c.4224+87_4225-101del NP_001305758.1:n.4224+87_4225-101del
NM_001318831.2:c.3837+87_3838-101del NP_001305760.1:n.3837+87_3838-101del
NM_001318832.2:c.4401+87_4402-101del NP_001305761.1:n.4401+87_4402-101del
NM_001363528.2:c.4371+87_4372-101del NP_001350457.1:n.4371+87_4372-101del
NM_021055.3:c.4440+87_4441-101del NP_066399.2:n.4440+87_4441-101del
Search 100 bp 5'
Search 100 bp 3'