Canonical Allele Identifier: CA2202038076
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081646_2081648delinsCGG , CM000678.2:g.2081646_2081648delinsCGG GRCh38
NC_000016.9:g.2131647_2131649delinsCGG , CM000678.1:g.2131647_2131649delinsCGG GRCh37
NC_000016.8:g.2071648_2071650delinsCGG NCBI36
NG_005895.1:g.37341_37343delinsCGG , LRG_487:g.37341_37343delinsCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2080_*2082delinsCGG ENSP00000455997.2:n.*2080_*2082delinsCGG
ENST00000642206.2:c.3578_3580delinsCGG ENSP00000495146.2:p.Ser1193=
ENST00000642365.2:c.3659_3661delinsCGG ENSP00000495459.2:p.Ser1220=
ENST00000644417.2:c.*4111_*4113delinsCGG ENSP00000493912.2:n.*4111_*4113delinsCGG
ENST00000646464.2:c.*4584_*4586delinsCGG ENSP00000496610.2:n.*4584_*4586delinsCGG
ENST00000219476.9:c.3662_3664delinsCGG MANE Select ENSP00000219476.3:p.Ser1221=
ENST00000350773.9:c.3662_3664delinsCGG ENSP00000344383.4:p.Ser1221=
ENST00000401874.7:c.3530_3532delinsCGG ENSP00000384468.2:p.Ser1177=
ENST00000568454.6:c.3563_3565delinsCGG ENSP00000454487.1:p.Ser1188=
ENST00000642365.1:c.2316_2318delinsCGG
ENST00000642561.1:c.3533_3535delinsCGG ENSP00000495099.1:p.Ser1178=
ENST00000642797.1:c.3533_3535delinsCGG ENSP00000493846.1:p.Ser1178=
ENST00000642936.1:c.3530_3532delinsCGG ENSP00000494514.1:p.Ser1177=
ENST00000643088.1:c.3530_3532delinsCGG ENSP00000494747.1:p.Ser1177=
ENST00000643426.1:n.1310_1312delinsCGG
ENST00000643533.1:n.172_174delinsCGG
ENST00000643946.1:c.3662_3664delinsCGG ENSP00000495927.1:p.Ser1221=
ENST00000644043.1:c.3533_3535delinsCGG ENSP00000496262.1:p.Ser1178=
ENST00000644329.1:c.3530_3532delinsCGG ENSP00000496611.1:p.Ser1177=
ENST00000644335.1:c.3533_3535delinsCGG ENSP00000496317.1:p.Ser1178=
ENST00000644399.1:c.3652_3654delinsCGG
ENST00000644722.1:n.808_810delinsCGG
ENST00000645024.1:n.1815_1817delinsCGG
ENST00000646388.1:c.3662_3664delinsCGG ENSP00000495921.1:p.Ser1221=
ENST00000646634.1:n.2546_2548delinsCGG
ENST00000646674.1:n.277_279delinsCGG
ENST00000647042.1:n.954_956delinsCGG
ENST00000647180.1:n.142_144delinsCGG
ENST00000219476.7:c.3662_3664delinsCGG ENSP00000219476.3:p.Ser1221=
ENST00000350773.8:c.3662_3664delinsCGG ENSP00000344383.4:p.Ser1221=
ENST00000382538.10:c.3386_3388delinsCGG ENSP00000371978.6:p.Ser1129=
ENST00000401874.6:c.3530_3532delinsCGG ENSP00000384468.2:p.Ser1177=
ENST00000439117.6:c.*2829_*2831delinsCGG ENSP00000406980.2:n.*2829_*2831delinsCGG
ENST00000439673.6:c.3422_3424delinsCGG ENSP00000399232.2:p.Ser1141=
ENST00000497886.5:n.1489_1491delinsCGG
ENST00000568454.5:c.3563_3565delinsCGG ENSP00000454487.1:p.Ser1188=
NM_000548.3:c.3662_3664delinsCGG , LRG_487t1:c.3662_3664delinsCGG NP_000539.2:p.Ser1221=
NM_001077183.1:c.3530_3532delinsCGG NP_001070651.1:p.Ser1177=
NM_001114382.1:c.3662_3664delinsCGG NP_001107854.1:p.Ser1221=
XM_005255529.3:c.3533_3535delinsCGG XP_005255586.2:p.Ser1178=
XM_005255531.3:c.3533_3535delinsCGG XP_005255588.2:p.Ser1178=
XM_011522636.1:c.3662_3664delinsCGG XP_011520938.1:p.Ser1221=
XM_011522637.1:c.3659_3661delinsCGG XP_011520939.1:p.Ser1220=
XM_011522638.1:c.3551_3553delinsCGG XP_011520940.1:p.Ser1184=
XM_011522639.1:c.3533_3535delinsCGG XP_011520941.1:p.Ser1178=
XM_011522640.1:c.3530_3532delinsCGG XP_011520942.1:p.Ser1177=
XM_011522641.1:c.3422_3424delinsCGG XP_011520943.1:p.Ser1141=
NM_000548.4:c.3662_3664delinsCGG NP_000539.2:p.Ser1221=
NM_001077183.2:c.3530_3532delinsCGG NP_001070651.1:p.Ser1177=
NM_001114382.2:c.3662_3664delinsCGG NP_001107854.1:p.Ser1221=
NM_001318827.1:c.3422_3424delinsCGG NP_001305756.1:p.Ser1141=
NM_001318829.1:c.3386_3388delinsCGG NP_001305758.1:p.Ser1129=
NM_001318831.1:c.2930_2932delinsCGG NP_001305760.1:p.Ser977=
NM_001318832.1:c.3563_3565delinsCGG NP_001305761.1:p.Ser1188=
NM_001363528.1:c.3533_3535delinsCGG NP_001350457.1:p.Ser1178=
NM_021055.2:c.3533_3535delinsCGG NP_066399.2:p.Ser1178=
XM_005255531.4:c.3533_3535delinsCGG XP_005255588.2:p.Ser1178=
XM_011522636.2:c.3662_3664delinsCGG XP_011520938.1:p.Ser1221=
XM_011522637.2:c.3659_3661delinsCGG XP_011520939.1:p.Ser1220=
XM_011522638.2:c.3824_3826delinsCGG XP_011520940.2:p.Ser1275=
XM_011522639.2:c.3533_3535delinsCGG XP_011520941.1:p.Ser1178=
XM_011522640.2:c.3530_3532delinsCGG XP_011520942.1:p.Ser1177=
XM_017023615.1:c.3659_3661delinsCGG XP_016879104.1:p.Ser1220=
XM_017023616.1:c.3530_3532delinsCGG XP_016879105.1:p.Ser1177=
XM_017023617.1:c.3695_3697delinsCGG XP_016879106.1:p.Ser1232=
XM_017023618.1:c.2318_2320delinsCGG XP_016879107.1:p.Ser773=
XM_024450413.1:c.3530_3532delinsCGG XP_024306181.1:p.Ser1177=
NM_000548.5:c.3662_3664delinsCGG MANE Select NP_000539.2:p.Ser1221=
NM_001370404.1:c.3530_3532delinsCGG NP_001357333.1:p.Ser1177=
NM_001370405.1:c.3533_3535delinsCGG NP_001357334.1:p.Ser1178=
NM_001077183.3:c.3530_3532delinsCGG NP_001070651.1:p.Ser1177=
NM_001114382.3:c.3662_3664delinsCGG NP_001107854.1:p.Ser1221=
NM_001318827.2:c.3422_3424delinsCGG NP_001305756.1:p.Ser1141=
NM_001318829.2:c.3386_3388delinsCGG NP_001305758.1:p.Ser1129=
NM_001318831.2:c.2930_2932delinsCGG NP_001305760.1:p.Ser977=
NM_001318832.2:c.3563_3565delinsCGG NP_001305761.1:p.Ser1188=
NM_001363528.2:c.3533_3535delinsCGG NP_001350457.1:p.Ser1178=
NM_021055.3:c.3533_3535delinsCGG NP_066399.2:p.Ser1178=