Canonical Allele Identifier: CA2580091028
Gene: TSC2 HGNC NCBI

Linked Data

dbSNP Id: rs2151549002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085212_2085224del , CM000678.2:g.2085212_2085224del GRCh38
NC_000016.9:g.2135213_2135225del , CM000678.1:g.2135213_2135225del GRCh37
NC_000016.8:g.2075214_2075226del NCBI36
NG_005895.1:g.40907_40919del , LRG_487:g.40907_40919del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2919-18_*2919-6del ENSP00000455997.2:n.*2919-18_*2919-6del
ENST00000642206.2:c.4417-18_4417-6del ENSP00000495146.2:n.4417-18_4417-6del
ENST00000642365.2:c.4567-18_4567-6del ENSP00000495459.2:n.4567-18_4567-6del
ENST00000644417.2:c.*4950-18_*4950-6del ENSP00000493912.2:n.*4950-18_*4950-6del
ENST00000646464.2:c.*7319-18_*7319-6del ENSP00000496610.2:n.*7319-18_*7319-6del
ENST00000219476.9:c.4570-18_4570-6del MANE Select ENSP00000219476.3:n.4570-18_4570-6del
ENST00000350773.9:c.4501-18_4501-6del ENSP00000344383.4:n.4501-18_4501-6del
ENST00000401874.7:c.4369-18_4369-6del ENSP00000384468.2:n.4369-18_4369-6del
ENST00000568454.6:c.4402-18_4402-6del ENSP00000454487.1:n.4402-18_4402-6del
ENST00000569110.2:c.793-18_793-6del
ENST00000569930.2:n.2452-18_2452-6del
ENST00000642365.1:c.3224-18_3224-6del
ENST00000642561.1:c.4441-18_4441-6del ENSP00000495099.1:n.4441-18_4441-6del
ENST00000642728.1:n.752-18_752-6del
ENST00000642791.1:n.149_161del
ENST00000642797.1:c.4372-18_4372-6del ENSP00000493846.1:n.4372-18_4372-6del
ENST00000642936.1:c.4438-18_4438-6del ENSP00000494514.1:n.4438-18_4438-6del
ENST00000643088.1:c.4369-24_4369-12del ENSP00000494747.1:n.4369-24_4369-12del
ENST00000643177.1:n.584-18_584-6del
ENST00000643426.1:n.2218-18_2218-6del
ENST00000643946.1:c.4501-24_4501-12del ENSP00000495927.1:n.4501-24_4501-12del
ENST00000644043.1:c.4441-18_4441-6del ENSP00000496262.1:n.4441-18_4441-6del
ENST00000644278.1:n.34_46del
ENST00000644329.1:c.4369-18_4369-6del ENSP00000496611.1:n.4369-18_4369-6del
ENST00000644335.1:c.4372-24_4372-12del ENSP00000496317.1:n.4372-24_4372-12del
ENST00000644399.1:c.4491-18_4491-6del
ENST00000645024.1:n.2654-18_2654-6del
ENST00000646388.1:c.4570-24_4570-12del ENSP00000495921.1:n.4570-24_4570-12del
ENST00000646634.1:n.3385-18_3385-6del
ENST00000646674.1:n.1822-18_1822-6del
ENST00000647042.1:n.1793-18_1793-6del
ENST00000647180.1:n.1683-18_1683-6del
ENST00000219476.7:c.4570-18_4570-6del ENSP00000219476.3:n.4570-18_4570-6del
ENST00000350773.8:c.4501-18_4501-6del ENSP00000344383.4:n.4501-18_4501-6del
ENST00000382538.10:c.4225-18_4225-6del ENSP00000371978.6:n.4225-18_4225-6del
ENST00000401874.6:c.4369-18_4369-6del ENSP00000384468.2:n.4369-18_4369-6del
ENST00000439117.6:c.*3737-18_*3737-6del ENSP00000406980.2:n.*3737-18_*3737-6del
ENST00000439673.6:c.4261-18_4261-6del ENSP00000399232.2:n.4261-18_4261-6del
ENST00000497886.5:n.2328-18_2328-6del
ENST00000568454.5:c.4402-18_4402-6del ENSP00000454487.1:n.4402-18_4402-6del
ENST00000569110.1:c.752-18_752-6del
ENST00000569930.1:n.1685-18_1685-6del
NM_000548.3:c.4570-18_4570-6del , LRG_487t1:c.4570-18_4570-6del NP_000539.2:n.4570-18_4570-6del
NM_001077183.1:c.4369-18_4369-6del NP_001070651.1:n.4369-18_4369-6del
NM_001114382.1:c.4501-18_4501-6del NP_001107854.1:n.4501-18_4501-6del
XM_005255529.3:c.4441-18_4441-6del XP_005255586.2:n.4441-18_4441-6del
XM_005255531.3:c.4372-18_4372-6del XP_005255588.2:n.4372-18_4372-6del
XM_011522636.1:c.4624-18_4624-6del XP_011520938.1:n.4624-18_4624-6del
XM_011522637.1:c.4621-18_4621-6del XP_011520939.1:n.4621-18_4621-6del
XM_011522638.1:c.4513-18_4513-6del XP_011520940.1:n.4513-18_4513-6del
XM_011522639.1:c.4495-18_4495-6del XP_011520941.1:n.4495-18_4495-6del
XM_011522640.1:c.4492-18_4492-6del XP_011520942.1:n.4492-18_4492-6del
XM_011522641.1:c.4261-18_4261-6del XP_011520943.1:n.4261-18_4261-6del
NM_000548.4:c.4570-18_4570-6del NP_000539.2:n.4570-18_4570-6del
NM_001077183.2:c.4369-18_4369-6del NP_001070651.1:n.4369-18_4369-6del
NM_001114382.2:c.4501-18_4501-6del NP_001107854.1:n.4501-18_4501-6del
NM_001318827.1:c.4261-18_4261-6del NP_001305756.1:n.4261-18_4261-6del
NM_001318829.1:c.4225-18_4225-6del NP_001305758.1:n.4225-18_4225-6del
NM_001318831.1:c.3838-18_3838-6del NP_001305760.1:n.3838-18_3838-6del
NM_001318832.1:c.4402-18_4402-6del NP_001305761.1:n.4402-18_4402-6del
NM_001363528.1:c.4372-18_4372-6del NP_001350457.1:n.4372-18_4372-6del
NM_021055.2:c.4441-18_4441-6del NP_066399.2:n.4441-18_4441-6del
XM_005255531.4:c.4372-18_4372-6del XP_005255588.2:n.4372-18_4372-6del
XM_011522636.2:c.4624-18_4624-6del XP_011520938.1:n.4624-18_4624-6del
XM_011522637.2:c.4621-18_4621-6del XP_011520939.1:n.4621-18_4621-6del
XM_011522638.2:c.4786-18_4786-6del XP_011520940.2:n.4786-18_4786-6del
XM_011522639.2:c.4495-18_4495-6del XP_011520941.1:n.4495-18_4495-6del
XM_011522640.2:c.4492-18_4492-6del XP_011520942.1:n.4492-18_4492-6del
XM_017023615.1:c.4567-18_4567-6del XP_016879104.1:n.4567-18_4567-6del
XM_017023616.1:c.4438-18_4438-6del XP_016879105.1:n.4438-18_4438-6del
XM_017023617.1:c.4534-18_4534-6del XP_016879106.1:n.4534-18_4534-6del
XM_017023618.1:c.3280-18_3280-6del XP_016879107.1:n.3280-18_3280-6del
XM_024450413.1:c.4369-18_4369-6del XP_024306181.1:n.4369-18_4369-6del
NM_000548.5:c.4570-18_4570-6del MANE Select NP_000539.2:n.4570-18_4570-6del
NM_001370404.1:c.4438-18_4438-6del NP_001357333.1:n.4438-18_4438-6del
NM_001370405.1:c.4441-18_4441-6del NP_001357334.1:n.4441-18_4441-6del
NM_001077183.3:c.4369-18_4369-6del NP_001070651.1:n.4369-18_4369-6del
NM_001114382.3:c.4501-18_4501-6del NP_001107854.1:n.4501-18_4501-6del
NM_001318827.2:c.4261-18_4261-6del NP_001305756.1:n.4261-18_4261-6del
NM_001318829.2:c.4225-18_4225-6del NP_001305758.1:n.4225-18_4225-6del
NM_001318831.2:c.3838-18_3838-6del NP_001305760.1:n.3838-18_3838-6del
NM_001318832.2:c.4402-18_4402-6del NP_001305761.1:n.4402-18_4402-6del
NM_001363528.2:c.4372-18_4372-6del NP_001350457.1:n.4372-18_4372-6del
NM_021055.3:c.4441-18_4441-6del NP_066399.2:n.4441-18_4441-6del
Search 100 bp 5'
Search 100 bp 3'