Canonical Allele Identifier: CA16609842
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 403720
ClinVar RCV Id: RCV000461470
dbSNP Id: rs1060499647
MyVariant Identifiers: chr16:g.2114411del (hg19) chr16:g.2064410del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2064410del , CM000678.2:g.2064410del GRCh38
NC_000016.9:g.2114411del , CM000678.1:g.2114411del GRCh37
NC_000016.8:g.2054412del NCBI36
NG_005895.1:g.20105del , LRG_487:g.20105del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*129del ENSP00000455997.2:n.*129del
ENST00000642206.2:c.1627del ENSP00000495146.2:p.Leu543TrpfsTer7
ENST00000642365.2:c.1582del ENSP00000495459.2:p.Leu528TrpfsTer7
ENST00000644417.2:c.*1019del ENSP00000493912.2:n.*1019del
ENST00000646464.2:c.*1187del ENSP00000496610.2:n.*1187del
ENST00000219476.9:c.1582del MANE Select ENSP00000219476.3:p.Leu528TrpfsTer7
ENST00000350773.9:c.1582del ENSP00000344383.4:p.Leu528TrpfsTer7
ENST00000401874.7:c.1582del ENSP00000384468.2:p.Leu528TrpfsTer7
ENST00000463601.2:n.1710del
ENST00000568454.6:c.1615del ENSP00000454487.1:p.Leu539TrpfsTer7
ENST00000642365.1:c.239del
ENST00000642561.1:c.1582del ENSP00000495099.1:p.Leu528TrpfsTer7
ENST00000642797.1:c.1582del ENSP00000493846.1:p.Leu528TrpfsTer7
ENST00000642812.1:n.1627del
ENST00000642936.1:c.1582del ENSP00000494514.1:p.Leu528TrpfsTer7
ENST00000643088.1:c.1582del ENSP00000494747.1:p.Leu528TrpfsTer7
ENST00000643149.1:n.3592del
ENST00000643298.1:c.*1084del ENSP00000494393.1:n.*1084del
ENST00000643745.1:c.*514del ENSP00000495948.1:n.*514del
ENST00000643946.1:c.1582del ENSP00000495927.1:p.Leu528TrpfsTer7
ENST00000644043.1:c.1582del ENSP00000496262.1:p.Leu528TrpfsTer7
ENST00000644135.1:c.1582del ENSP00000495644.1:p.Leu528TrpfsTer7
ENST00000644222.1:n.1669del
ENST00000644329.1:c.1582del ENSP00000496611.1:p.Leu528TrpfsTer7
ENST00000644335.1:c.1582del ENSP00000496317.1:p.Leu528TrpfsTer7
ENST00000644399.1:c.1575del
ENST00000644665.1:n.2756del
ENST00000644847.1:n.574del
ENST00000645591.1:n.2640del
ENST00000646388.1:c.1582del ENSP00000495921.1:p.Leu528TrpfsTer7
ENST00000646634.1:n.595del
ENST00000647234.1:n.3340del
ENST00000647242.1:n.2218del
ENST00000219476.7:c.1582del ENSP00000219476.3:p.Leu528TrpfsTer7
ENST00000350773.8:c.1582del ENSP00000344383.4:p.Leu528TrpfsTer7
ENST00000382538.10:c.1435del ENSP00000371978.6:p.Leu479TrpfsTer7
ENST00000401874.6:c.1582del ENSP00000384468.2:p.Leu528TrpfsTer7
ENST00000439117.6:c.*881del ENSP00000406980.2:n.*881del
ENST00000439673.6:c.1471del ENSP00000399232.2:p.Leu491TrpfsTer7
ENST00000490108.1:n.355del
ENST00000568238.1:n.340del
ENST00000568454.5:c.1615del ENSP00000454487.1:p.Leu539TrpfsTer7
ENST00000568566.5:c.222del ENSP00000455997.1:n.222del
NM_000548.3:c.1582del , LRG_487t1:c.1582del NP_000539.2:p.Leu528TrpfsTer7
NM_001077183.1:c.1582del NP_001070651.1:p.Leu528TrpfsTer7
NM_001114382.1:c.1582del NP_001107854.1:p.Leu528TrpfsTer7
XM_005255529.3:c.1582del XP_005255586.2:p.Leu528TrpfsTer7
XM_005255531.3:c.1582del XP_005255588.2:p.Leu528TrpfsTer7
XM_011522636.1:c.1582del XP_011520938.1:p.Leu528TrpfsTer7
XM_011522637.1:c.1582del XP_011520939.1:p.Leu528TrpfsTer7
XM_011522638.1:c.1471del XP_011520940.1:p.Leu491TrpfsTer7
XM_011522639.1:c.1582del XP_011520941.1:p.Leu528TrpfsTer7
XM_011522640.1:c.1582del XP_011520942.1:p.Leu528TrpfsTer7
XM_011522641.1:c.1471del XP_011520943.1:p.Leu491TrpfsTer7
NM_000548.4:c.1582del NP_000539.2:p.Leu528TrpfsTer7
NM_001077183.2:c.1582del NP_001070651.1:p.Leu528TrpfsTer7
NM_001114382.2:c.1582del NP_001107854.1:p.Leu528TrpfsTer7
NM_001318827.1:c.1471del NP_001305756.1:p.Leu491TrpfsTer7
NM_001318829.1:c.1435del NP_001305758.1:p.Leu479TrpfsTer7
NM_001318831.1:c.982del NP_001305760.1:p.Leu328TrpfsTer7
NM_001318832.1:c.1615del NP_001305761.1:p.Leu539TrpfsTer7
NM_001363528.1:c.1582del NP_001350457.1:p.Leu528TrpfsTer7
NM_021055.2:c.1582del NP_066399.2:p.Leu528TrpfsTer7
XM_005255531.4:c.1582del XP_005255588.2:p.Leu528TrpfsTer7
XM_011522636.2:c.1582del XP_011520938.1:p.Leu528TrpfsTer7
XM_011522637.2:c.1582del XP_011520939.1:p.Leu528TrpfsTer7
XM_011522638.2:c.1744del XP_011520940.2:p.Leu582TrpfsTer7
XM_011522639.2:c.1582del XP_011520941.1:p.Leu528TrpfsTer7
XM_011522640.2:c.1582del XP_011520942.1:p.Leu528TrpfsTer7
XM_017023615.1:c.1582del XP_016879104.1:p.Leu528TrpfsTer7
XM_017023616.1:c.1582del XP_016879105.1:p.Leu528TrpfsTer7
XM_017023617.1:c.1744del XP_016879106.1:p.Leu582TrpfsTer7
XM_017023618.1:c.238del XP_016879107.1:p.Leu80TrpfsTer7
XM_024450413.1:c.1582del XP_024306181.1:p.Leu528TrpfsTer7
NM_000548.5:c.1582del MANE Select NP_000539.2:p.Leu528TrpfsTer7
NM_001370404.1:c.1582del NP_001357333.1:p.Leu528TrpfsTer7
NM_001370405.1:c.1582del NP_001357334.1:p.Leu528TrpfsTer7
NM_001077183.3:c.1582del NP_001070651.1:p.Leu528TrpfsTer7
NM_001114382.3:c.1582del NP_001107854.1:p.Leu528TrpfsTer7
NM_001318827.2:c.1471del NP_001305756.1:p.Leu491TrpfsTer7
NM_001318829.2:c.1435del NP_001305758.1:p.Leu479TrpfsTer7
NM_001318831.2:c.982del NP_001305760.1:p.Leu328TrpfsTer7
NM_001318832.2:c.1615del NP_001305761.1:p.Leu539TrpfsTer7
NM_001363528.2:c.1582del NP_001350457.1:p.Leu528TrpfsTer7
NM_021055.3:c.1582del NP_066399.2:p.Leu528TrpfsTer7
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