Canonical Allele Identifier: CA019965
Gene: TSC2 HGNC NCBI

Linked Data

dbSNP Id: rs137854368
COSMIC: COSM87714
MyVariant Identifiers: chr16:g.2134338_2134339del (hg19) chr16:g.2084337_2084338del (hg38)
PubMed: PMID:17304050
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084337_2084338del , CM000678.2:g.2084337_2084338del GRCh38
NC_000016.9:g.2134338_2134339del , CM000678.1:g.2134338_2134339del GRCh37
NC_000016.8:g.2074339_2074340del NCBI36
NG_005895.1:g.40032_40033del , LRG_487:g.40032_40033del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2464_*2465del ENSP00000455997.2:n.*2464_*2465del
ENST00000642206.2:c.3962_3963del ENSP00000495146.2:p.Val1321GlyfsTer?
ENST00000642365.2:c.4112_4113del ENSP00000495459.2:p.Val1371GlyfsTer?
ENST00000644417.2:c.*4495_*4496del ENSP00000493912.2:n.*4495_*4496del
ENST00000646464.2:c.*6864_*6865del ENSP00000496610.2:n.*6864_*6865del
ENST00000219476.9:c.4115_4116del MANE Select ENSP00000219476.3:p.Val1372GlyfsTer?
ENST00000350773.9:c.4046_4047del ENSP00000344383.4:p.Val1349GlyfsTer?
ENST00000401874.7:c.3914_3915del ENSP00000384468.2:p.Val1305GlyfsTer?
ENST00000568454.6:c.3947_3948del ENSP00000454487.1:p.Val1316GlyfsTer?
ENST00000569110.2:c.351_352del
ENST00000569930.2:n.1997_1998del
ENST00000642365.1:c.2769_2770del
ENST00000642561.1:c.3986_3987del ENSP00000495099.1:p.Val1329GlyfsTer?
ENST00000642728.1:n.297_298del
ENST00000642797.1:c.3917_3918del ENSP00000493846.1:p.Val1306GlyfsTer?
ENST00000642936.1:c.3983_3984del ENSP00000494514.1:p.Val1328GlyfsTer?
ENST00000643088.1:c.3914_3915del ENSP00000494747.1:p.Val1305GlyfsTer?
ENST00000643177.1:n.129_130del
ENST00000643426.1:n.1763_1764del
ENST00000643946.1:c.4046_4047del ENSP00000495927.1:p.Val1349GlyfsTer?
ENST00000644043.1:c.3986_3987del ENSP00000496262.1:p.Val1329GlyfsTer?
ENST00000644329.1:c.3914_3915del ENSP00000496611.1:p.Val1305GlyfsTer?
ENST00000644335.1:c.3917_3918del ENSP00000496317.1:p.Val1306GlyfsTer?
ENST00000644399.1:c.4036_4037del
ENST00000645024.1:n.2199_2200del
ENST00000645186.1:c.358_359del
ENST00000646388.1:c.4115_4116del ENSP00000495921.1:p.Val1372GlyfsTer?
ENST00000646634.1:n.2930_2931del
ENST00000646674.1:n.1367_1368del
ENST00000647042.1:n.1338_1339del
ENST00000647180.1:n.1228_1229del
ENST00000219476.7:c.4115_4116del ENSP00000219476.3:p.Val1372GlyfsTer?
ENST00000350773.8:c.4046_4047del ENSP00000344383.4:p.Val1349GlyfsTer?
ENST00000382538.10:c.3770_3771del ENSP00000371978.6:p.Val1257GlyfsTer?
ENST00000401874.6:c.3914_3915del ENSP00000384468.2:p.Val1305GlyfsTer?
ENST00000439117.6:c.*3282_*3283del ENSP00000406980.2:n.*3282_*3283del
ENST00000439673.6:c.3806_3807del ENSP00000399232.2:p.Val1269GlyfsTer?
ENST00000497886.5:n.1873_1874del
ENST00000568454.5:c.3947_3948del ENSP00000454487.1:p.Val1316GlyfsTer?
ENST00000569110.1:c.297_298del
ENST00000569930.1:n.1230_1231del
NM_000548.3:c.4115_4116del , LRG_487t1:c.4115_4116del NP_000539.2:p.Val1372GlyfsTer?
NM_001077183.1:c.3914_3915del NP_001070651.1:p.Val1305GlyfsTer?
NM_001114382.1:c.4046_4047del NP_001107854.1:p.Val1349GlyfsTer?
XM_005255529.3:c.3986_3987del XP_005255586.2:p.Val1329GlyfsTer?
XM_005255531.3:c.3917_3918del XP_005255588.2:p.Val1306GlyfsTer?
XM_011522636.1:c.4169_4170del XP_011520938.1:p.Val1390GlyfsTer?
XM_011522637.1:c.4166_4167del XP_011520939.1:p.Val1389GlyfsTer?
XM_011522638.1:c.4058_4059del XP_011520940.1:p.Val1353GlyfsTer?
XM_011522639.1:c.4040_4041del XP_011520941.1:p.Val1347GlyfsTer?
XM_011522640.1:c.4037_4038del XP_011520942.1:p.Val1346GlyfsTer?
XM_011522641.1:c.3806_3807del XP_011520943.1:p.Val1269GlyfsTer?
NM_000548.4:c.4115_4116del NP_000539.2:p.Val1372GlyfsTer?
NM_001077183.2:c.3914_3915del NP_001070651.1:p.Val1305GlyfsTer?
NM_001114382.2:c.4046_4047del NP_001107854.1:p.Val1349GlyfsTer?
NM_001318827.1:c.3806_3807del NP_001305756.1:p.Val1269GlyfsTer?
NM_001318829.1:c.3770_3771del NP_001305758.1:p.Val1257GlyfsTer?
NM_001318831.1:c.3383_3384del NP_001305760.1:p.Val1128GlyfsTer?
NM_001318832.1:c.3947_3948del NP_001305761.1:p.Val1316GlyfsTer?
NM_001363528.1:c.3917_3918del NP_001350457.1:p.Val1306GlyfsTer?
NM_021055.2:c.3986_3987del NP_066399.2:p.Val1329GlyfsTer?
XM_005255531.4:c.3917_3918del XP_005255588.2:p.Val1306GlyfsTer?
XM_011522636.2:c.4169_4170del XP_011520938.1:p.Val1390GlyfsTer?
XM_011522637.2:c.4166_4167del XP_011520939.1:p.Val1389GlyfsTer?
XM_011522638.2:c.4331_4332del XP_011520940.2:p.Val1444GlyfsTer?
XM_011522639.2:c.4040_4041del XP_011520941.1:p.Val1347GlyfsTer?
XM_011522640.2:c.4037_4038del XP_011520942.1:p.Val1346GlyfsTer?
XM_017023615.1:c.4112_4113del XP_016879104.1:p.Val1371GlyfsTer?
XM_017023616.1:c.3983_3984del XP_016879105.1:p.Val1328GlyfsTer?
XM_017023617.1:c.4079_4080del XP_016879106.1:p.Val1360GlyfsTer?
XM_017023618.1:c.2825_2826del XP_016879107.1:p.Val942GlyfsTer?
XM_024450413.1:c.3914_3915del XP_024306181.1:p.Val1305GlyfsTer?
NM_000548.5:c.4115_4116del MANE Select NP_000539.2:p.Val1372GlyfsTer?
NM_001370404.1:c.3983_3984del NP_001357333.1:p.Val1328GlyfsTer?
NM_001370405.1:c.3986_3987del NP_001357334.1:p.Val1329GlyfsTer?
NM_001077183.3:c.3914_3915del NP_001070651.1:p.Val1305GlyfsTer?
NM_001114382.3:c.4046_4047del NP_001107854.1:p.Val1349GlyfsTer?
NM_001318827.2:c.3806_3807del NP_001305756.1:p.Val1269GlyfsTer?
NM_001318829.2:c.3770_3771del NP_001305758.1:p.Val1257GlyfsTer?
NM_001318831.2:c.3383_3384del NP_001305760.1:p.Val1128GlyfsTer?
NM_001318832.2:c.3947_3948del NP_001305761.1:p.Val1316GlyfsTer?
NM_001363528.2:c.3917_3918del NP_001350457.1:p.Val1306GlyfsTer?
NM_021055.3:c.3986_3987del NP_066399.2:p.Val1329GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'