Canonical Allele Identifier: CA2202030978
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2074144_2074198delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA , CM000678.2:g.2074144_2074198delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA GRCh38
NC_000016.9:g.2124145_2124199delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA , CM000678.1:g.2124145_2124199delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA GRCh37
NC_000016.8:g.2064146_2064200delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NCBI36
NG_005895.1:g.29839_29893delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA , LRG_487:g.29839_29893delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*903-56_*903-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000455997.2:n.*903-56_*903-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000642206.2:c.2401-56_2401-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000495146.2:n.2401-56_2401-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000642365.2:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000495459.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000644417.2:c.*1793-56_*1793-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000493912.2:n.*1793-56_*1793-2delinsGGCGAGGCTGCCTCTGCTG...
ENST00000646464.2:c.*2001-56_*2001-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000496610.2:n.*2001-56_*2001-2delinsGGCGAGGCTGCCTCTGCTG...
ENST00000219476.9:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA MANE Select ENSP00000219476.3:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000350773.9:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000344383.4:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000401874.7:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000384468.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000563346.2:n.534-56_534-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA
ENST00000568454.6:c.2389-56_2389-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000454487.1:n.2389-56_2389-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000642365.1:c.1013-56_1013-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA
ENST00000642561.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000495099.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000642797.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000493846.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000642936.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000494514.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000643088.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000494747.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000643298.1:c.*1858-56_*1858-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000494393.1:n.*1858-56_*1858-2delinsGGCGAGGCTGCCTCTGCTG...
ENST00000643946.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000495927.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000644043.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000496262.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000644329.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000496611.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000644335.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000496317.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000644399.1:c.2349-56_2349-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA
ENST00000644847.1:n.1348-56_1348-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA
ENST00000645024.1:n.638-56_638-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA
ENST00000645552.1:n.636-56_636-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA
ENST00000646388.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000495921.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000646464.1:c.449-56_449-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000496610.1:n.449-56_449-2delinsGGCGAGGCTGCCTCTGCTGCAAG...
ENST00000646634.1:n.1369-56_1369-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA
ENST00000219476.7:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000219476.3:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000350773.8:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000344383.4:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000382538.10:c.2209-56_2209-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000371978.6:n.2209-56_2209-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000401874.6:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000384468.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000439117.6:c.*1655-56_*1655-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000406980.2:n.*1655-56_*1655-2delinsGGCGAGGCTGCCTCTGCTG...
ENST00000439673.6:c.2245-56_2245-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000399232.2:n.2245-56_2245-2delinsGGCGAGGCTGCCTCTGCTGCA...
ENST00000463808.1:n.390-56_390-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA
ENST00000563346.1:n.425-56_425-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA
ENST00000568454.5:c.2389-56_2389-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA ENSP00000454487.1:n.2389-56_2389-2delinsGGCGAGGCTGCCTCTGCTGCA...
NM_000548.3:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA , LRG_487t1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_000539.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGG...
NM_001077183.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001070651.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001114382.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001107854.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_005255529.3:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_005255586.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_005255531.3:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_005255588.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522636.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520938.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522637.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520939.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522638.1:c.2245-56_2245-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520940.1:n.2245-56_2245-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522639.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520941.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522640.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520942.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522641.1:c.2245-56_2245-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520943.1:n.2245-56_2245-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_000548.4:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_000539.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGG...
NM_001077183.2:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001070651.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001114382.2:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001107854.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001318827.1:c.2245-56_2245-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001305756.1:n.2245-56_2245-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001318829.1:c.2209-56_2209-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001305758.1:n.2209-56_2209-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001318831.1:c.1756-56_1756-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001305760.1:n.1756-56_1756-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001318832.1:c.2389-56_2389-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001305761.1:n.2389-56_2389-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001363528.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001350457.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_021055.2:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_066399.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGG...
XM_005255531.4:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_005255588.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522636.2:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520938.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522637.2:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520939.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522638.2:c.2518-56_2518-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520940.2:n.2518-56_2518-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522639.2:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520941.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_011522640.2:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_011520942.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_017023615.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_016879104.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_017023616.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_016879105.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_017023617.1:c.2518-56_2518-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_016879106.1:n.2518-56_2518-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_017023618.1:c.1012-56_1012-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_016879107.1:n.1012-56_1012-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
XM_024450413.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA XP_024306181.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_000548.5:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA MANE Select NP_000539.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGG...
NM_001370404.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001357333.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001370405.1:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001357334.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001077183.3:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001070651.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001114382.3:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001107854.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001318827.2:c.2245-56_2245-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001305756.1:n.2245-56_2245-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001318829.2:c.2209-56_2209-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001305758.1:n.2209-56_2209-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001318831.2:c.1756-56_1756-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001305760.1:n.1756-56_1756-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001318832.2:c.2389-56_2389-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001305761.1:n.2389-56_2389-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_001363528.2:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_001350457.1:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGC...
NM_021055.3:c.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCA NP_066399.2:n.2356-56_2356-2delinsGGCGAGGCTGCCTCTGCTGCAAGCGGG...