Canonical Allele Identifier: CA2202038039
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081636_2081654delinsCCTTTCTCCTCGGACATCA , CM000678.2:g.2081636_2081654delinsCCTTTCTCCTCGGACATCA GRCh38
NC_000016.9:g.2131637_2131655delinsCCTTTCTCCTCGGACATCA , CM000678.1:g.2131637_2131655delinsCCTTTCTCCTCGGACATCA GRCh37
NC_000016.8:g.2071638_2071656delinsCCTTTCTCCTCGGACATCA NCBI36
NG_005895.1:g.37331_37349delinsCCTTTCTCCTCGGACATCA , LRG_487:g.37331_37349delinsCCTTTCTCCTCGGACATCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2070_*2088delinsCCTTTCTCCTCGGACATCA ENSP00000455997.2:n.*2070_*2088delinsCCTTTCTCCTCGGACATCA
ENST00000642206.2:c.3568_3586delinsCCTTTCTCCTCGGACATCA ENSP00000495146.2:p.Pro1190=
ENST00000642365.2:c.3649_3667delinsCCTTTCTCCTCGGACATCA ENSP00000495459.2:p.Pro1217=
ENST00000644417.2:c.*4101_*4119delinsCCTTTCTCCTCGGACATCA ENSP00000493912.2:n.*4101_*4119delinsCCTTTCTCCTCGGACATCA
ENST00000646464.2:c.*4574_*4592delinsCCTTTCTCCTCGGACATCA ENSP00000496610.2:n.*4574_*4592delinsCCTTTCTCCTCGGACATCA
ENST00000219476.9:c.3652_3670delinsCCTTTCTCCTCGGACATCA MANE Select ENSP00000219476.3:p.Pro1218=
ENST00000350773.9:c.3652_3670delinsCCTTTCTCCTCGGACATCA ENSP00000344383.4:p.Pro1218=
ENST00000401874.7:c.3520_3538delinsCCTTTCTCCTCGGACATCA ENSP00000384468.2:p.Pro1174=
ENST00000568454.6:c.3553_3571delinsCCTTTCTCCTCGGACATCA ENSP00000454487.1:p.Pro1185=
ENST00000642365.1:c.2306_2324delinsCCTTTCTCCTCGGACATCA
ENST00000642561.1:c.3523_3541delinsCCTTTCTCCTCGGACATCA ENSP00000495099.1:p.Pro1175=
ENST00000642797.1:c.3523_3541delinsCCTTTCTCCTCGGACATCA ENSP00000493846.1:p.Pro1175=
ENST00000642936.1:c.3520_3538delinsCCTTTCTCCTCGGACATCA ENSP00000494514.1:p.Pro1174=
ENST00000643088.1:c.3520_3538delinsCCTTTCTCCTCGGACATCA ENSP00000494747.1:p.Pro1174=
ENST00000643426.1:n.1300_1318delinsCCTTTCTCCTCGGACATCA
ENST00000643533.1:n.162_180delinsCCTTTCTCCTCGGACATCA
ENST00000643946.1:c.3652_3670delinsCCTTTCTCCTCGGACATCA ENSP00000495927.1:p.Pro1218=
ENST00000644043.1:c.3523_3541delinsCCTTTCTCCTCGGACATCA ENSP00000496262.1:p.Pro1175=
ENST00000644329.1:c.3520_3538delinsCCTTTCTCCTCGGACATCA ENSP00000496611.1:p.Pro1174=
ENST00000644335.1:c.3523_3541delinsCCTTTCTCCTCGGACATCA ENSP00000496317.1:p.Pro1175=
ENST00000644399.1:c.3642_3660delinsCCTTTCTCCTCGGACATCA
ENST00000644722.1:n.798_816delinsCCTTTCTCCTCGGACATCA
ENST00000645024.1:n.1805_1823delinsCCTTTCTCCTCGGACATCA
ENST00000646388.1:c.3652_3670delinsCCTTTCTCCTCGGACATCA ENSP00000495921.1:p.Pro1218=
ENST00000646634.1:n.2536_2554delinsCCTTTCTCCTCGGACATCA
ENST00000646674.1:n.267_285delinsCCTTTCTCCTCGGACATCA
ENST00000647042.1:n.944_962delinsCCTTTCTCCTCGGACATCA
ENST00000647180.1:n.132_150delinsCCTTTCTCCTCGGACATCA
ENST00000219476.7:c.3652_3670delinsCCTTTCTCCTCGGACATCA ENSP00000219476.3:p.Pro1218=
ENST00000350773.8:c.3652_3670delinsCCTTTCTCCTCGGACATCA ENSP00000344383.4:p.Pro1218=
ENST00000382538.10:c.3376_3394delinsCCTTTCTCCTCGGACATCA ENSP00000371978.6:p.Pro1126=
ENST00000401874.6:c.3520_3538delinsCCTTTCTCCTCGGACATCA ENSP00000384468.2:p.Pro1174=
ENST00000439117.6:c.*2819_*2837delinsCCTTTCTCCTCGGACATCA ENSP00000406980.2:n.*2819_*2837delinsCCTTTCTCCTCGGACATCA
ENST00000439673.6:c.3412_3430delinsCCTTTCTCCTCGGACATCA ENSP00000399232.2:p.Pro1138=
ENST00000497886.5:n.1479_1497delinsCCTTTCTCCTCGGACATCA
ENST00000568454.5:c.3553_3571delinsCCTTTCTCCTCGGACATCA ENSP00000454487.1:p.Pro1185=
NM_000548.3:c.3652_3670delinsCCTTTCTCCTCGGACATCA , LRG_487t1:c.3652_3670delinsCCTTTCTCCTCGGACATCA NP_000539.2:p.Pro1218=
NM_001077183.1:c.3520_3538delinsCCTTTCTCCTCGGACATCA NP_001070651.1:p.Pro1174=
NM_001114382.1:c.3652_3670delinsCCTTTCTCCTCGGACATCA NP_001107854.1:p.Pro1218=
XM_005255529.3:c.3523_3541delinsCCTTTCTCCTCGGACATCA XP_005255586.2:p.Pro1175=
XM_005255531.3:c.3523_3541delinsCCTTTCTCCTCGGACATCA XP_005255588.2:p.Pro1175=
XM_011522636.1:c.3652_3670delinsCCTTTCTCCTCGGACATCA XP_011520938.1:p.Pro1218=
XM_011522637.1:c.3649_3667delinsCCTTTCTCCTCGGACATCA XP_011520939.1:p.Pro1217=
XM_011522638.1:c.3541_3559delinsCCTTTCTCCTCGGACATCA XP_011520940.1:p.Pro1181=
XM_011522639.1:c.3523_3541delinsCCTTTCTCCTCGGACATCA XP_011520941.1:p.Pro1175=
XM_011522640.1:c.3520_3538delinsCCTTTCTCCTCGGACATCA XP_011520942.1:p.Pro1174=
XM_011522641.1:c.3412_3430delinsCCTTTCTCCTCGGACATCA XP_011520943.1:p.Pro1138=
NM_000548.4:c.3652_3670delinsCCTTTCTCCTCGGACATCA NP_000539.2:p.Pro1218=
NM_001077183.2:c.3520_3538delinsCCTTTCTCCTCGGACATCA NP_001070651.1:p.Pro1174=
NM_001114382.2:c.3652_3670delinsCCTTTCTCCTCGGACATCA NP_001107854.1:p.Pro1218=
NM_001318827.1:c.3412_3430delinsCCTTTCTCCTCGGACATCA NP_001305756.1:p.Pro1138=
NM_001318829.1:c.3376_3394delinsCCTTTCTCCTCGGACATCA NP_001305758.1:p.Pro1126=
NM_001318831.1:c.2920_2938delinsCCTTTCTCCTCGGACATCA NP_001305760.1:p.Pro974=
NM_001318832.1:c.3553_3571delinsCCTTTCTCCTCGGACATCA NP_001305761.1:p.Pro1185=
NM_001363528.1:c.3523_3541delinsCCTTTCTCCTCGGACATCA NP_001350457.1:p.Pro1175=
NM_021055.2:c.3523_3541delinsCCTTTCTCCTCGGACATCA NP_066399.2:p.Pro1175=
XM_005255531.4:c.3523_3541delinsCCTTTCTCCTCGGACATCA XP_005255588.2:p.Pro1175=
XM_011522636.2:c.3652_3670delinsCCTTTCTCCTCGGACATCA XP_011520938.1:p.Pro1218=
XM_011522637.2:c.3649_3667delinsCCTTTCTCCTCGGACATCA XP_011520939.1:p.Pro1217=
XM_011522638.2:c.3814_3832delinsCCTTTCTCCTCGGACATCA XP_011520940.2:p.Pro1272=
XM_011522639.2:c.3523_3541delinsCCTTTCTCCTCGGACATCA XP_011520941.1:p.Pro1175=
XM_011522640.2:c.3520_3538delinsCCTTTCTCCTCGGACATCA XP_011520942.1:p.Pro1174=
XM_017023615.1:c.3649_3667delinsCCTTTCTCCTCGGACATCA XP_016879104.1:p.Pro1217=
XM_017023616.1:c.3520_3538delinsCCTTTCTCCTCGGACATCA XP_016879105.1:p.Pro1174=
XM_017023617.1:c.3685_3703delinsCCTTTCTCCTCGGACATCA XP_016879106.1:p.Pro1229=
XM_017023618.1:c.2308_2326delinsCCTTTCTCCTCGGACATCA XP_016879107.1:p.Pro770=
XM_024450413.1:c.3520_3538delinsCCTTTCTCCTCGGACATCA XP_024306181.1:p.Pro1174=
NM_000548.5:c.3652_3670delinsCCTTTCTCCTCGGACATCA MANE Select NP_000539.2:p.Pro1218=
NM_001370404.1:c.3520_3538delinsCCTTTCTCCTCGGACATCA NP_001357333.1:p.Pro1174=
NM_001370405.1:c.3523_3541delinsCCTTTCTCCTCGGACATCA NP_001357334.1:p.Pro1175=
NM_001077183.3:c.3520_3538delinsCCTTTCTCCTCGGACATCA NP_001070651.1:p.Pro1174=
NM_001114382.3:c.3652_3670delinsCCTTTCTCCTCGGACATCA NP_001107854.1:p.Pro1218=
NM_001318827.2:c.3412_3430delinsCCTTTCTCCTCGGACATCA NP_001305756.1:p.Pro1138=
NM_001318829.2:c.3376_3394delinsCCTTTCTCCTCGGACATCA NP_001305758.1:p.Pro1126=
NM_001318831.2:c.2920_2938delinsCCTTTCTCCTCGGACATCA NP_001305760.1:p.Pro974=
NM_001318832.2:c.3553_3571delinsCCTTTCTCCTCGGACATCA NP_001305761.1:p.Pro1185=
NM_001363528.2:c.3523_3541delinsCCTTTCTCCTCGGACATCA NP_001350457.1:p.Pro1175=
NM_021055.3:c.3523_3541delinsCCTTTCTCCTCGGACATCA NP_066399.2:p.Pro1175=