Canonical Allele Identifier: CA021186
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49879
ClinVar RCV Id: RCV000043145 RCV000478381 RCV000818975
dbSNP Id: rs137854122
COSMIC: COSM968303 COSM968304
MyVariant Identifiers: chr16:g.2105409_2105410del (hg19) chr16:g.2055408_2055409del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2055408_2055409del , CM000678.2:g.2055408_2055409del GRCh38
NC_000016.9:g.2105409_2105410del , CM000678.1:g.2105409_2105410del GRCh37
NC_000016.8:g.2045410_2045411del NCBI36
NG_005895.1:g.11103_11104del , LRG_487:g.11103_11104del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.488_489del ENSP00000455997.2:p.Phe163CysfsTer25
ENST00000642206.2:c.533_534del ENSP00000495146.2:p.Phe178CysfsTer25
ENST00000642365.2:c.488_489del ENSP00000495459.2:p.Phe163CysfsTer25
ENST00000644417.2:c.482-11_482-10del ENSP00000493912.2:n.482-11_482-10del
ENST00000646464.2:c.226-572_226-571del ENSP00000496610.2:n.226-572_226-571del
ENST00000219476.9:c.488_489del MANE Select ENSP00000219476.3:p.Phe163CysfsTer25
ENST00000350773.9:c.488_489del ENSP00000344383.4:p.Phe163CysfsTer25
ENST00000401874.7:c.488_489del ENSP00000384468.2:p.Phe163CysfsTer25
ENST00000432909.3:c.262_263del
ENST00000461648.3:n.2402_2403del
ENST00000568454.6:c.521_522del ENSP00000454487.1:p.Phe174CysfsTer25
ENST00000568692.2:n.1211_1212del
ENST00000642561.1:c.488_489del ENSP00000495099.1:p.Phe163CysfsTer25
ENST00000642797.1:c.488_489del ENSP00000493846.1:p.Phe163CysfsTer25
ENST00000642812.1:n.545_546del
ENST00000642936.1:c.488_489del ENSP00000494514.1:p.Phe163CysfsTer25
ENST00000643088.1:c.488_489del ENSP00000494747.1:p.Phe163CysfsTer25
ENST00000643120.1:n.523-11_523-10del
ENST00000643149.1:n.1441_1442del
ENST00000643298.1:c.488_489del ENSP00000494393.1:p.Phe163CysfsTer25
ENST00000643745.1:c.488_489del ENSP00000495948.1:p.Phe163CysfsTer25
ENST00000643946.1:c.488_489del ENSP00000495927.1:p.Phe163CysfsTer25
ENST00000644043.1:c.488_489del ENSP00000496262.1:p.Phe163CysfsTer25
ENST00000644135.1:c.488_489del ENSP00000495644.1:p.Phe163CysfsTer25
ENST00000644222.1:n.575_576del
ENST00000644329.1:c.488_489del ENSP00000496611.1:p.Phe163CysfsTer25
ENST00000644335.1:c.488_489del ENSP00000496317.1:p.Phe163CysfsTer25
ENST00000644399.1:c.481_482del
ENST00000644417.1:c.197-11_197-10del ENSP00000493912.1:n.197-11_197-10del
ENST00000644665.1:n.605_606del
ENST00000645591.1:n.1459_1460del
ENST00000646388.1:c.488_489del ENSP00000495921.1:p.Phe163CysfsTer25
ENST00000646823.1:n.876_877del
ENST00000647234.1:n.1200-11_1200-10del
ENST00000647242.1:n.1156_1157del
ENST00000219476.7:c.488_489del ENSP00000219476.3:p.Phe163CysfsTer25
ENST00000350773.8:c.488_489del ENSP00000344383.4:p.Phe163CysfsTer25
ENST00000382538.10:c.341_342del ENSP00000371978.6:p.Phe114CysfsTer25
ENST00000401874.6:c.488_489del ENSP00000384468.2:p.Phe163CysfsTer25
ENST00000432909.2:c.262_263del
ENST00000439117.6:c.226-788_226-787del ENSP00000406980.2:n.226-788_226-787del
ENST00000439673.6:c.377_378del ENSP00000399232.2:p.Phe126CysfsTer25
ENST00000568454.5:c.521_522del ENSP00000454487.1:p.Phe174CysfsTer25
ENST00000568692.1:n.152_153del
NM_000548.3:c.488_489del , LRG_487t1:c.488_489del NP_000539.2:p.Phe163CysfsTer25
NM_001077183.1:c.488_489del NP_001070651.1:p.Phe163CysfsTer25
NM_001114382.1:c.488_489del NP_001107854.1:p.Phe163CysfsTer25
XM_005255529.3:c.488_489del XP_005255586.2:p.Phe163CysfsTer25
XM_005255531.3:c.488_489del XP_005255588.2:p.Phe163CysfsTer25
XM_011522636.1:c.488_489del XP_011520938.1:p.Phe163CysfsTer25
XM_011522637.1:c.488_489del XP_011520939.1:p.Phe163CysfsTer25
XM_011522638.1:c.377_378del XP_011520940.1:p.Phe126CysfsTer25
XM_011522639.1:c.488_489del XP_011520941.1:p.Phe163CysfsTer25
XM_011522640.1:c.488_489del XP_011520942.1:p.Phe163CysfsTer25
XM_011522641.1:c.377_378del XP_011520943.1:p.Phe126CysfsTer25
NM_000548.4:c.488_489del NP_000539.2:p.Phe163CysfsTer25
NM_001077183.2:c.488_489del NP_001070651.1:p.Phe163CysfsTer25
NM_001114382.2:c.488_489del NP_001107854.1:p.Phe163CysfsTer25
NM_001318827.1:c.377_378del NP_001305756.1:p.Phe126CysfsTer25
NM_001318829.1:c.341_342del NP_001305758.1:p.Phe114CysfsTer25
NM_001318831.1:c.-1-788_-1-787del NP_001305760.1:n.-1-788_-1-787del
NM_001318832.1:c.521_522del NP_001305761.1:p.Phe174CysfsTer25
NM_001363528.1:c.488_489del NP_001350457.1:p.Phe163CysfsTer25
NM_021055.2:c.488_489del NP_066399.2:p.Phe163CysfsTer25
XM_005255531.4:c.488_489del XP_005255588.2:p.Phe163CysfsTer25
XM_011522636.2:c.488_489del XP_011520938.1:p.Phe163CysfsTer25
XM_011522637.2:c.488_489del XP_011520939.1:p.Phe163CysfsTer25
XM_011522638.2:c.650_651del XP_011520940.2:p.Phe217CysfsTer25
XM_011522639.2:c.488_489del XP_011520941.1:p.Phe163CysfsTer25
XM_011522640.2:c.488_489del XP_011520942.1:p.Phe163CysfsTer25
XM_017023615.1:c.488_489del XP_016879104.1:p.Phe163CysfsTer25
XM_017023616.1:c.488_489del XP_016879105.1:p.Phe163CysfsTer25
XM_017023617.1:c.650_651del XP_016879106.1:p.Phe217CysfsTer25
XM_017023618.1:c.-944_-943del XP_016879107.1:n.-944_-943del
XM_024450413.1:c.488_489del XP_024306181.1:p.Phe163CysfsTer25
NM_000548.5:c.488_489del MANE Select NP_000539.2:p.Phe163CysfsTer25
NM_001370404.1:c.488_489del NP_001357333.1:p.Phe163CysfsTer25
NM_001370405.1:c.488_489del NP_001357334.1:p.Phe163CysfsTer25
NM_001077183.3:c.488_489del NP_001070651.1:p.Phe163CysfsTer25
NM_001114382.3:c.488_489del NP_001107854.1:p.Phe163CysfsTer25
NM_001318827.2:c.377_378del NP_001305756.1:p.Phe126CysfsTer25
NM_001318829.2:c.341_342del NP_001305758.1:p.Phe114CysfsTer25
NM_001318831.2:c.-1-788_-1-787del NP_001305760.1:n.-1-788_-1-787del
NM_001318832.2:c.521_522del NP_001305761.1:p.Phe174CysfsTer25
NM_001363528.2:c.488_489del NP_001350457.1:p.Phe163CysfsTer25
NM_021055.3:c.488_489del NP_066399.2:p.Phe163CysfsTer25
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