Canonical Allele Identifier: CA016558
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49715
dbSNP Id: rs137854071

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2071908del , CM000678.2:g.2071908del GRCh38
NC_000016.9:g.2121909del , CM000678.1:g.2121909del GRCh37
NC_000016.8:g.2061910del NCBI36
NG_005895.1:g.27603del , LRG_487:g.27603del

Transcript Alleles

HGVS Amino-acid change
ENST00000219476.9:c.2071del MANE Select ENSP00000219476.3:p.Arg691AlafsTer7
ENST00000350773.9:c.2071del ENSP00000344383.4:p.Arg691AlafsTer7
ENST00000401874.7:c.2071del ENSP00000384468.2:p.Arg691AlafsTer7
ENST00000563346.2:n.249del
ENST00000568454.6:c.2104del ENSP00000454487.1:p.Arg702AlafsTer7
ENST00000642365.1:n.728del
ENST00000642561.1:c.2071del ENSP00000495099.1:p.Arg691AlafsTer7
ENST00000642797.1:c.2071del ENSP00000493846.1:p.Arg691AlafsTer7
ENST00000642936.1:c.2071del ENSP00000494514.1:p.Arg691AlafsTer7
ENST00000643088.1:c.2071del ENSP00000494747.1:p.Arg691AlafsTer7
ENST00000643298.1:c.*1573del ENSP00000494393.1:n.*1573del
ENST00000643946.1:c.2071del ENSP00000495927.1:p.Arg691AlafsTer7
ENST00000644043.1:c.2071del ENSP00000496262.1:p.Arg691AlafsTer7
ENST00000644329.1:c.2071del ENSP00000496611.1:p.Arg691AlafsTer7
ENST00000644335.1:c.2071del ENSP00000496317.1:p.Arg691AlafsTer7
ENST00000644399.1:n.2064del
ENST00000644847.1:n.1063del
ENST00000645024.1:n.353del
ENST00000645552.1:n.351del
ENST00000646388.1:c.2071del ENSP00000495921.1:p.Arg691AlafsTer7
ENST00000646464.1:n.124del ENSP00000496610.1:p.Arg42AlafsTer7
ENST00000646634.1:n.1084del
ENST00000219476.7:c.2071del ENSP00000219476.3:p.Arg691AlafsTer7
ENST00000350773.8:c.2071del ENSP00000344383.4:p.Arg691AlafsTer7
ENST00000382538.10:c.1924del ENSP00000371978.6:p.Arg642AlafsTer7
ENST00000401874.6:c.2071del ENSP00000384468.2:p.Arg691AlafsTer7
ENST00000439117.6:c.*1370del ENSP00000406980.2:n.*1370del
ENST00000439673.6:c.1960del ENSP00000399232.2:p.Arg654AlafsTer7
ENST00000563346.1:n.140del
ENST00000568454.5:c.2104del ENSP00000454487.1:p.Arg702AlafsTer7
NM_000548.3:c.2071del , LRG_487t1:c.2071del NP_000539.2:p.Arg691AlafsTer7
NM_001077183.1:c.2071del NP_001070651.1:p.Arg691AlafsTer7
NM_001114382.1:c.2071del NP_001107854.1:p.Arg691AlafsTer7
XM_005255529.3:c.2071del XP_005255586.2:p.Arg691AlafsTer7
XM_005255531.3:c.2071del XP_005255588.2:p.Arg691AlafsTer7
XM_011522636.1:c.2071del XP_011520938.1:p.Arg691AlafsTer7
XM_011522637.1:c.2071del XP_011520939.1:p.Arg691AlafsTer7
XM_011522638.1:c.1960del XP_011520940.1:p.Arg654AlafsTer7
XM_011522639.1:c.2071del XP_011520941.1:p.Arg691AlafsTer7
XM_011522640.1:c.2071del XP_011520942.1:p.Arg691AlafsTer7
XM_011522641.1:c.1960del XP_011520943.1:p.Arg654AlafsTer7
NM_000548.4:c.2071del NP_000539.2:p.Arg691AlafsTer7
NM_001077183.2:c.2071del NP_001070651.1:p.Arg691AlafsTer7
NM_001114382.2:c.2071del NP_001107854.1:p.Arg691AlafsTer7
NM_001318827.1:c.1960del NP_001305756.1:p.Arg654AlafsTer7
NM_001318829.1:c.1924del NP_001305758.1:p.Arg642AlafsTer7
NM_001318831.1:c.1471del NP_001305760.1:p.Arg491AlafsTer7
NM_001318832.1:c.2104del NP_001305761.1:p.Arg702AlafsTer7
NM_001363528.1:c.2071del NP_001350457.1:p.Arg691AlafsTer7
NM_021055.2:c.2071del NP_066399.2:p.Arg691AlafsTer7
XM_005255531.4:c.2071del XP_005255588.2:p.Arg691AlafsTer7
XM_011522636.2:c.2071del XP_011520938.1:p.Arg691AlafsTer7
XM_011522637.2:c.2071del XP_011520939.1:p.Arg691AlafsTer7
XM_011522638.2:c.2233del XP_011520940.2:p.Arg745AlafsTer7
XM_011522639.2:c.2071del XP_011520941.1:p.Arg691AlafsTer7
XM_011522640.2:c.2071del XP_011520942.1:p.Arg691AlafsTer7
XM_017023615.1:c.2071del XP_016879104.1:p.Arg691AlafsTer7
XM_017023616.1:c.2071del XP_016879105.1:p.Arg691AlafsTer7
XM_017023617.1:c.2233del XP_016879106.1:p.Arg745AlafsTer7
XM_017023618.1:c.727del XP_016879107.1:p.Arg243AlafsTer7
XM_024450413.1:c.2071del XP_024306181.1:p.Arg691AlafsTer7
NM_000548.5:c.2071del MANE Select NP_000539.2:p.Arg691AlafsTer7
NM_001370404.1:c.2071del NP_001357333.1:p.Arg691AlafsTer7
NM_001370405.1:c.2071del NP_001357334.1:p.Arg691AlafsTer7
NM_001077183.3:c.2071del NP_001070651.1:p.Arg691AlafsTer7
NM_001114382.3:c.2071del NP_001107854.1:p.Arg691AlafsTer7
NM_001318827.2:c.1960del NP_001305756.1:p.Arg654AlafsTer7
NM_001318829.2:c.1924del NP_001305758.1:p.Arg642AlafsTer7
NM_001318831.2:c.1471del NP_001305760.1:p.Arg491AlafsTer7
NM_001318832.2:c.2104del NP_001305761.1:p.Arg702AlafsTer7
NM_001363528.2:c.2071del NP_001350457.1:p.Arg691AlafsTer7
NM_021055.3:c.2071del NP_066399.2:p.Arg691AlafsTer7