Canonical Allele Identifier: CA017844
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49723
ClinVar RCV Id: RCV000042988
dbSNP Id: rs137854068

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2076097_2076105del , CM000678.2:g.2076097_2076105del GRCh38
NC_000016.9:g.2126098_2126106del , CM000678.1:g.2126098_2126106del GRCh37
NC_000016.8:g.2066099_2066107del NCBI36
NG_005895.1:g.31792_31800del , LRG_487:g.31792_31800del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1216_*1224del ENSP00000455997.2:n.*1216_*1224del
ENST00000642206.2:c.2714_2722del ENSP00000495146.2:p.His905_Ile908delinsLe...
ENST00000642365.2:c.2669_2677del ENSP00000495459.2:p.His890_Ile893delinsLe...
ENST00000644417.2:c.*2106_*2114del ENSP00000493912.2:n.*2106_*2114del
ENST00000646464.2:c.*3723_*3731del ENSP00000496610.2:n.*3723_*3731del
ENST00000219476.9:c.2669_2677del MANE Select ENSP00000219476.3:p.His890_Ile893delinsLe...
ENST00000350773.9:c.2669_2677del ENSP00000344383.4:p.His890_Ile893delinsLe...
ENST00000401874.7:c.2669_2677del ENSP00000384468.2:p.His890_Ile893delinsLe...
ENST00000568454.6:c.2702_2710del ENSP00000454487.1:p.His901_Ile904delinsLe...
ENST00000642365.1:c.1326_1334del
ENST00000642561.1:c.2669_2677del ENSP00000495099.1:p.His890_Ile893delinsLe...
ENST00000642797.1:c.2669_2677del ENSP00000493846.1:p.His890_Ile893delinsLe...
ENST00000642936.1:c.2669_2677del ENSP00000494514.1:p.His890_Ile893delinsLe...
ENST00000643088.1:c.2669_2677del ENSP00000494747.1:p.His890_Ile893delinsLe...
ENST00000643946.1:c.2669_2677del ENSP00000495927.1:p.His890_Ile893delinsLe...
ENST00000644043.1:c.2669_2677del ENSP00000496262.1:p.His890_Ile893delinsLe...
ENST00000644329.1:c.2669_2677del ENSP00000496611.1:p.His890_Ile893delinsLe...
ENST00000644335.1:c.2669_2677del ENSP00000496317.1:p.His890_Ile893delinsLe...
ENST00000644399.1:c.2662_2670del
ENST00000645024.1:n.951_959del
ENST00000646388.1:c.2669_2677del ENSP00000495921.1:p.His890_Ile893delinsLe...
ENST00000646634.1:n.1682_1690del
ENST00000219476.7:c.2669_2677del ENSP00000219476.3:p.His890_Ile893delinsLe...
ENST00000350773.8:c.2669_2677del ENSP00000344383.4:p.His890_Ile893delinsLe...
ENST00000382538.10:c.2522_2530del ENSP00000371978.6:p.His841_Ile844delinsLe...
ENST00000401874.6:c.2669_2677del ENSP00000384468.2:p.His890_Ile893delinsLe...
ENST00000439117.6:c.*1968_*1976del ENSP00000406980.2:n.*1968_*1976del
ENST00000439673.6:c.2558_2566del ENSP00000399232.2:p.His853_Ile856delinsLe...
ENST00000568454.5:c.2702_2710del ENSP00000454487.1:p.His901_Ile904delinsLe...
NM_000548.3:c.2669_2677del , LRG_487t1:c.2669_2677del NP_000539.2:p.His890_Ile893delinsLeu
NM_001077183.1:c.2669_2677del NP_001070651.1:p.His890_Ile893delinsLeu
NM_001114382.1:c.2669_2677del NP_001107854.1:p.His890_Ile893delinsLeu
XM_005255529.3:c.2669_2677del XP_005255586.2:p.His890_Ile893delinsLeu
XM_005255531.3:c.2669_2677del XP_005255588.2:p.His890_Ile893delinsLeu
XM_011522636.1:c.2669_2677del XP_011520938.1:p.His890_Ile893delinsLeu
XM_011522637.1:c.2669_2677del XP_011520939.1:p.His890_Ile893delinsLeu
XM_011522638.1:c.2558_2566del XP_011520940.1:p.His853_Ile856delinsLeu
XM_011522639.1:c.2669_2677del XP_011520941.1:p.His890_Ile893delinsLeu
XM_011522640.1:c.2669_2677del XP_011520942.1:p.His890_Ile893delinsLeu
XM_011522641.1:c.2558_2566del XP_011520943.1:p.His853_Ile856delinsLeu
NM_000548.4:c.2669_2677del NP_000539.2:p.His890_Ile893delinsLeu
NM_001077183.2:c.2669_2677del NP_001070651.1:p.His890_Ile893delinsLeu
NM_001114382.2:c.2669_2677del NP_001107854.1:p.His890_Ile893delinsLeu
NM_001318827.1:c.2558_2566del NP_001305756.1:p.His853_Ile856delinsLeu
NM_001318829.1:c.2522_2530del NP_001305758.1:p.His841_Ile844delinsLeu
NM_001318831.1:c.2069_2077del NP_001305760.1:p.His690_Ile693delinsLeu
NM_001318832.1:c.2702_2710del NP_001305761.1:p.His901_Ile904delinsLeu
NM_001363528.1:c.2669_2677del NP_001350457.1:p.His890_Ile893delinsLeu
NM_021055.2:c.2669_2677del NP_066399.2:p.His890_Ile893delinsLeu
XM_005255531.4:c.2669_2677del XP_005255588.2:p.His890_Ile893delinsLeu
XM_011522636.2:c.2669_2677del XP_011520938.1:p.His890_Ile893delinsLeu
XM_011522637.2:c.2669_2677del XP_011520939.1:p.His890_Ile893delinsLeu
XM_011522638.2:c.2831_2839del XP_011520940.2:p.His944_Ile947delinsLeu
XM_011522639.2:c.2669_2677del XP_011520941.1:p.His890_Ile893delinsLeu
XM_011522640.2:c.2669_2677del XP_011520942.1:p.His890_Ile893delinsLeu
XM_017023615.1:c.2669_2677del XP_016879104.1:p.His890_Ile893delinsLeu
XM_017023616.1:c.2669_2677del XP_016879105.1:p.His890_Ile893delinsLeu
XM_017023617.1:c.2831_2839del XP_016879106.1:p.His944_Ile947delinsLeu
XM_017023618.1:c.1325_1333del XP_016879107.1:p.His442_Ile445delinsLeu
XM_024450413.1:c.2669_2677del XP_024306181.1:p.His890_Ile893delinsLeu
NM_000548.5:c.2669_2677del MANE Select NP_000539.2:p.His890_Ile893delinsLeu
NM_001370404.1:c.2669_2677del NP_001357333.1:p.His890_Ile893delinsLeu
NM_001370405.1:c.2669_2677del NP_001357334.1:p.His890_Ile893delinsLeu
NM_001077183.3:c.2669_2677del NP_001070651.1:p.His890_Ile893delinsLeu
NM_001114382.3:c.2669_2677del NP_001107854.1:p.His890_Ile893delinsLeu
NM_001318827.2:c.2558_2566del NP_001305756.1:p.His853_Ile856delinsLeu
NM_001318829.2:c.2522_2530del NP_001305758.1:p.His841_Ile844delinsLeu
NM_001318831.2:c.2069_2077del NP_001305760.1:p.His690_Ile693delinsLeu
NM_001318832.2:c.2702_2710del NP_001305761.1:p.His901_Ile904delinsLeu
NM_001363528.2:c.2669_2677del NP_001350457.1:p.His890_Ile893delinsLeu
NM_021055.3:c.2669_2677del NP_066399.2:p.His890_Ile893delinsLeu