Canonical Allele Identifier: CA023003
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49447
ClinVar RCV Id: RCV000042707 RCV000180518 RCV000312270
dbSNP Id: rs137853977
MyVariant Identifiers: chr16:g.2107157_2107158del (hg19) chr16:g.2057156_2057157del (hg38)
PubMed: PMID:10533067 PMID:10735580 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2057156_2057157del , CM000678.2:g.2057156_2057157del GRCh38
NC_000016.9:g.2107157_2107158del , CM000678.1:g.2107157_2107158del GRCh37
NC_000016.8:g.2047158_2047159del NCBI36
NG_005895.1:g.12851_12852del , LRG_487:g.12851_12852del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.826_827del ENSP00000455997.2:p.Met276ValfsTer?
ENST00000642206.2:c.871_872del ENSP00000495146.2:p.Met291ValfsTer?
ENST00000642365.2:c.826_827del ENSP00000495459.2:p.Met276ValfsTer?
ENST00000644417.2:c.*263_*264del ENSP00000493912.2:n.*263_*264del
ENST00000646464.2:c.*431_*432del ENSP00000496610.2:n.*431_*432del
ENST00000219476.9:c.826_827del MANE Select ENSP00000219476.3:p.Met276ValfsTer?
ENST00000350773.9:c.826_827del ENSP00000344383.4:p.Met276ValfsTer?
ENST00000401874.7:c.826_827del ENSP00000384468.2:p.Met276ValfsTer?
ENST00000467949.2:n.278_279del
ENST00000568454.6:c.859_860del ENSP00000454487.1:p.Met287ValfsTer?
ENST00000642561.1:c.826_827del ENSP00000495099.1:p.Met276ValfsTer?
ENST00000642797.1:c.826_827del ENSP00000493846.1:p.Met276ValfsTer?
ENST00000642812.1:n.871_872del
ENST00000642936.1:c.826_827del ENSP00000494514.1:p.Met276ValfsTer?
ENST00000643088.1:c.826_827del ENSP00000494747.1:p.Met276ValfsTer?
ENST00000643149.1:n.1779_1780del
ENST00000643298.1:c.*328_*329del ENSP00000494393.1:n.*328_*329del
ENST00000643745.1:c.826_827del ENSP00000495948.1:p.Met276ValfsTer?
ENST00000643946.1:c.826_827del ENSP00000495927.1:p.Met276ValfsTer?
ENST00000644043.1:c.826_827del ENSP00000496262.1:p.Met276ValfsTer?
ENST00000644135.1:c.826_827del ENSP00000495644.1:p.Met276ValfsTer?
ENST00000644222.1:n.913_914del
ENST00000644329.1:c.826_827del ENSP00000496611.1:p.Met276ValfsTer?
ENST00000644335.1:c.826_827del ENSP00000496317.1:p.Met276ValfsTer?
ENST00000644399.1:c.819_820del
ENST00000644665.1:n.943_944del
ENST00000645591.1:n.1797_1798del
ENST00000646388.1:c.826_827del ENSP00000495921.1:p.Met276ValfsTer?
ENST00000646823.1:n.1240_1241del
ENST00000647234.1:n.1527_1528del
ENST00000647242.1:n.1494_1495del
ENST00000219476.7:c.826_827del ENSP00000219476.3:p.Met276ValfsTer?
ENST00000350773.8:c.826_827del ENSP00000344383.4:p.Met276ValfsTer?
ENST00000382538.10:c.679_680del ENSP00000371978.6:p.Met227ValfsTer?
ENST00000401874.6:c.826_827del ENSP00000384468.2:p.Met276ValfsTer?
ENST00000439117.6:c.*125_*126del ENSP00000406980.2:n.*125_*126del
ENST00000439673.6:c.715_716del ENSP00000399232.2:p.Met239ValfsTer?
ENST00000467949.1:c.262_263del ENSP00000454997.1:p.Met88ValfsTer?
ENST00000568454.5:c.859_860del ENSP00000454487.1:p.Met287ValfsTer?
NM_000548.3:c.826_827del , LRG_487t1:c.826_827del NP_000539.2:p.Met276ValfsTer?
NM_001077183.1:c.826_827del NP_001070651.1:p.Met276ValfsTer?
NM_001114382.1:c.826_827del NP_001107854.1:p.Met276ValfsTer?
XM_005255529.3:c.826_827del XP_005255586.2:p.Met276ValfsTer?
XM_005255531.3:c.826_827del XP_005255588.2:p.Met276ValfsTer?
XM_011522636.1:c.826_827del XP_011520938.1:p.Met276ValfsTer?
XM_011522637.1:c.826_827del XP_011520939.1:p.Met276ValfsTer?
XM_011522638.1:c.715_716del XP_011520940.1:p.Met239ValfsTer?
XM_011522639.1:c.826_827del XP_011520941.1:p.Met276ValfsTer?
XM_011522640.1:c.826_827del XP_011520942.1:p.Met276ValfsTer?
XM_011522641.1:c.715_716del XP_011520943.1:p.Met239ValfsTer?
NM_000548.4:c.826_827del NP_000539.2:p.Met276ValfsTer?
NM_001077183.2:c.826_827del NP_001070651.1:p.Met276ValfsTer?
NM_001114382.2:c.826_827del NP_001107854.1:p.Met276ValfsTer?
NM_001318827.1:c.715_716del NP_001305756.1:p.Met239ValfsTer?
NM_001318829.1:c.679_680del NP_001305758.1:p.Met227ValfsTer?
NM_001318831.1:c.226_227del NP_001305760.1:p.Met76ValfsTer?
NM_001318832.1:c.859_860del NP_001305761.1:p.Met287ValfsTer?
NM_001363528.1:c.826_827del NP_001350457.1:p.Met276ValfsTer?
NM_021055.2:c.826_827del NP_066399.2:p.Met276ValfsTer?
XM_005255531.4:c.826_827del XP_005255588.2:p.Met276ValfsTer?
XM_011522636.2:c.826_827del XP_011520938.1:p.Met276ValfsTer?
XM_011522637.2:c.826_827del XP_011520939.1:p.Met276ValfsTer?
XM_011522638.2:c.988_989del XP_011520940.2:p.Met330ValfsTer?
XM_011522639.2:c.826_827del XP_011520941.1:p.Met276ValfsTer?
XM_011522640.2:c.826_827del XP_011520942.1:p.Met276ValfsTer?
XM_017023615.1:c.826_827del XP_016879104.1:p.Met276ValfsTer?
XM_017023616.1:c.826_827del XP_016879105.1:p.Met276ValfsTer?
XM_017023617.1:c.988_989del XP_016879106.1:p.Met330ValfsTer?
XM_017023618.1:c.-606_-605del XP_016879107.1:n.-606_-605del
XM_024450413.1:c.826_827del XP_024306181.1:p.Met276ValfsTer?
NM_000548.5:c.826_827del MANE Select NP_000539.2:p.Met276ValfsTer?
NM_001370404.1:c.826_827del NP_001357333.1:p.Met276ValfsTer?
NM_001370405.1:c.826_827del NP_001357334.1:p.Met276ValfsTer?
NM_001077183.3:c.826_827del NP_001070651.1:p.Met276ValfsTer?
NM_001114382.3:c.826_827del NP_001107854.1:p.Met276ValfsTer?
NM_001318827.2:c.715_716del NP_001305756.1:p.Met239ValfsTer?
NM_001318829.2:c.679_680del NP_001305758.1:p.Met227ValfsTer?
NM_001318831.2:c.226_227del NP_001305760.1:p.Met76ValfsTer?
NM_001318832.2:c.859_860del NP_001305761.1:p.Met287ValfsTer?
NM_001363528.2:c.826_827del NP_001350457.1:p.Met276ValfsTer?
NM_021055.3:c.826_827del NP_066399.2:p.Met276ValfsTer?
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