Canonical Allele Identifier: CA2631121282
Gene: TSC2 HGNC NCBI

Linked Data

gnomAD v4: 16-2085190-ACGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085191_2085193del , CM000678.2:g.2085191_2085193del GRCh38
NC_000016.9:g.2135192_2135194del , CM000678.1:g.2135192_2135194del GRCh37
NC_000016.8:g.2075193_2075195del NCBI36
NG_005895.1:g.40886_40888del , LRG_487:g.40886_40888del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2919-39_*2919-37del ENSP00000455997.2:n.*2919-39_*2919-37del
ENST00000642206.2:c.4417-39_4417-37del ENSP00000495146.2:n.4417-39_4417-37del
ENST00000642365.2:c.4567-39_4567-37del ENSP00000495459.2:n.4567-39_4567-37del
ENST00000644417.2:c.*4950-39_*4950-37del ENSP00000493912.2:n.*4950-39_*4950-37del
ENST00000646464.2:c.*7319-39_*7319-37del ENSP00000496610.2:n.*7319-39_*7319-37del
ENST00000219476.9:c.4570-39_4570-37del MANE Select ENSP00000219476.3:n.4570-39_4570-37del
ENST00000350773.9:c.4501-39_4501-37del ENSP00000344383.4:n.4501-39_4501-37del
ENST00000401874.7:c.4369-39_4369-37del ENSP00000384468.2:n.4369-39_4369-37del
ENST00000568454.6:c.4402-39_4402-37del ENSP00000454487.1:n.4402-39_4402-37del
ENST00000569110.2:c.793-39_793-37del
ENST00000569930.2:n.2452-39_2452-37del
ENST00000642365.1:c.3224-39_3224-37del
ENST00000642561.1:c.4441-39_4441-37del ENSP00000495099.1:n.4441-39_4441-37del
ENST00000642728.1:n.752-39_752-37del
ENST00000642791.1:n.128_130del
ENST00000642797.1:c.4372-39_4372-37del ENSP00000493846.1:n.4372-39_4372-37del
ENST00000642936.1:c.4438-39_4438-37del ENSP00000494514.1:n.4438-39_4438-37del
ENST00000643088.1:c.4369-45_4369-43del ENSP00000494747.1:n.4369-45_4369-43del
ENST00000643177.1:n.584-39_584-37del
ENST00000643426.1:n.2218-39_2218-37del
ENST00000643946.1:c.4501-45_4501-43del ENSP00000495927.1:n.4501-45_4501-43del
ENST00000644043.1:c.4441-39_4441-37del ENSP00000496262.1:n.4441-39_4441-37del
ENST00000644278.1:n.13_15del
ENST00000644329.1:c.4369-39_4369-37del ENSP00000496611.1:n.4369-39_4369-37del
ENST00000644335.1:c.4372-45_4372-43del ENSP00000496317.1:n.4372-45_4372-43del
ENST00000644399.1:c.4491-39_4491-37del
ENST00000645024.1:n.2654-39_2654-37del
ENST00000646388.1:c.4570-45_4570-43del ENSP00000495921.1:n.4570-45_4570-43del
ENST00000646634.1:n.3385-39_3385-37del
ENST00000646674.1:n.1822-39_1822-37del
ENST00000647042.1:n.1793-39_1793-37del
ENST00000647180.1:n.1683-39_1683-37del
ENST00000219476.7:c.4570-39_4570-37del ENSP00000219476.3:n.4570-39_4570-37del
ENST00000350773.8:c.4501-39_4501-37del ENSP00000344383.4:n.4501-39_4501-37del
ENST00000382538.10:c.4225-39_4225-37del ENSP00000371978.6:n.4225-39_4225-37del
ENST00000401874.6:c.4369-39_4369-37del ENSP00000384468.2:n.4369-39_4369-37del
ENST00000439117.6:c.*3737-39_*3737-37del ENSP00000406980.2:n.*3737-39_*3737-37del
ENST00000439673.6:c.4261-39_4261-37del ENSP00000399232.2:n.4261-39_4261-37del
ENST00000497886.5:n.2328-39_2328-37del
ENST00000568454.5:c.4402-39_4402-37del ENSP00000454487.1:n.4402-39_4402-37del
ENST00000569110.1:c.752-39_752-37del
ENST00000569930.1:n.1685-39_1685-37del
NM_000548.3:c.4570-39_4570-37del , LRG_487t1:c.4570-39_4570-37del NP_000539.2:n.4570-39_4570-37del
NM_001077183.1:c.4369-39_4369-37del NP_001070651.1:n.4369-39_4369-37del
NM_001114382.1:c.4501-39_4501-37del NP_001107854.1:n.4501-39_4501-37del
XM_005255529.3:c.4441-39_4441-37del XP_005255586.2:n.4441-39_4441-37del
XM_005255531.3:c.4372-39_4372-37del XP_005255588.2:n.4372-39_4372-37del
XM_011522636.1:c.4624-39_4624-37del XP_011520938.1:n.4624-39_4624-37del
XM_011522637.1:c.4621-39_4621-37del XP_011520939.1:n.4621-39_4621-37del
XM_011522638.1:c.4513-39_4513-37del XP_011520940.1:n.4513-39_4513-37del
XM_011522639.1:c.4495-39_4495-37del XP_011520941.1:n.4495-39_4495-37del
XM_011522640.1:c.4492-39_4492-37del XP_011520942.1:n.4492-39_4492-37del
XM_011522641.1:c.4261-39_4261-37del XP_011520943.1:n.4261-39_4261-37del
NM_000548.4:c.4570-39_4570-37del NP_000539.2:n.4570-39_4570-37del
NM_001077183.2:c.4369-39_4369-37del NP_001070651.1:n.4369-39_4369-37del
NM_001114382.2:c.4501-39_4501-37del NP_001107854.1:n.4501-39_4501-37del
NM_001318827.1:c.4261-39_4261-37del NP_001305756.1:n.4261-39_4261-37del
NM_001318829.1:c.4225-39_4225-37del NP_001305758.1:n.4225-39_4225-37del
NM_001318831.1:c.3838-39_3838-37del NP_001305760.1:n.3838-39_3838-37del
NM_001318832.1:c.4402-39_4402-37del NP_001305761.1:n.4402-39_4402-37del
NM_001363528.1:c.4372-39_4372-37del NP_001350457.1:n.4372-39_4372-37del
NM_021055.2:c.4441-39_4441-37del NP_066399.2:n.4441-39_4441-37del
XM_005255531.4:c.4372-39_4372-37del XP_005255588.2:n.4372-39_4372-37del
XM_011522636.2:c.4624-39_4624-37del XP_011520938.1:n.4624-39_4624-37del
XM_011522637.2:c.4621-39_4621-37del XP_011520939.1:n.4621-39_4621-37del
XM_011522638.2:c.4786-39_4786-37del XP_011520940.2:n.4786-39_4786-37del
XM_011522639.2:c.4495-39_4495-37del XP_011520941.1:n.4495-39_4495-37del
XM_011522640.2:c.4492-39_4492-37del XP_011520942.1:n.4492-39_4492-37del
XM_017023615.1:c.4567-39_4567-37del XP_016879104.1:n.4567-39_4567-37del
XM_017023616.1:c.4438-39_4438-37del XP_016879105.1:n.4438-39_4438-37del
XM_017023617.1:c.4534-39_4534-37del XP_016879106.1:n.4534-39_4534-37del
XM_017023618.1:c.3280-39_3280-37del XP_016879107.1:n.3280-39_3280-37del
XM_024450413.1:c.4369-39_4369-37del XP_024306181.1:n.4369-39_4369-37del
NM_000548.5:c.4570-39_4570-37del MANE Select NP_000539.2:n.4570-39_4570-37del
NM_001370404.1:c.4438-39_4438-37del NP_001357333.1:n.4438-39_4438-37del
NM_001370405.1:c.4441-39_4441-37del NP_001357334.1:n.4441-39_4441-37del
NM_001077183.3:c.4369-39_4369-37del NP_001070651.1:n.4369-39_4369-37del
NM_001114382.3:c.4501-39_4501-37del NP_001107854.1:n.4501-39_4501-37del
NM_001318827.2:c.4261-39_4261-37del NP_001305756.1:n.4261-39_4261-37del
NM_001318829.2:c.4225-39_4225-37del NP_001305758.1:n.4225-39_4225-37del
NM_001318831.2:c.3838-39_3838-37del NP_001305760.1:n.3838-39_3838-37del
NM_001318832.2:c.4402-39_4402-37del NP_001305761.1:n.4402-39_4402-37del
NM_001363528.2:c.4372-39_4372-37del NP_001350457.1:n.4372-39_4372-37del
NM_021055.3:c.4441-39_4441-37del NP_066399.2:n.4441-39_4441-37del
Search 100 bp 5'
Search 100 bp 3'