Canonical Allele Identifier: CA16620084
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419408
ClinVar RCV Id: RCV000481383
dbSNP Id: rs1064793853
MyVariant Identifiers: chr16:g.2098747_2098748del (hg19) chr16:g.2048746_2048747del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2048746_2048747del , CM000678.2:g.2048746_2048747del GRCh38
NC_000016.9:g.2098747_2098748del , CM000678.1:g.2098747_2098748del GRCh37
NC_000016.8:g.2038748_2038749del NCBI36
NG_005895.1:g.4441_4442del , LRG_487:g.4441_4442del
NG_008412.1:g.4121_4122del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.131_132del ENSP00000455997.2:p.Ile44ThrfsTer22
ENST00000642206.2:c.131_132del ENSP00000495146.2:p.Ile44ThrfsTer22
ENST00000642365.2:c.131_132del ENSP00000495459.2:p.Ile44ThrfsTer22
ENST00000644417.2:c.131_132del ENSP00000493912.2:p.Ile44ThrfsTer22
ENST00000646464.2:c.131_132del ENSP00000496610.2:p.Ile44ThrfsTer22
ENST00000219476.9:c.131_132del MANE Select ENSP00000219476.3:p.Ile44ThrfsTer22
ENST00000350773.9:c.131_132del ENSP00000344383.4:p.Ile44ThrfsTer22
ENST00000401874.7:c.131_132del ENSP00000384468.2:p.Ile44ThrfsTer22
ENST00000461648.3:n.241_242del
ENST00000568454.6:c.164_165del ENSP00000454487.1:p.Ile55ThrfsTer22
ENST00000568692.2:n.11_12del
ENST00000642206.1:c.131_132del ENSP00000495146.1:p.Ile44ThrfsTer22
ENST00000642561.1:c.131_132del ENSP00000495099.1:p.Ile44ThrfsTer22
ENST00000642797.1:c.131_132del ENSP00000493846.1:p.Ile44ThrfsTer22
ENST00000642812.1:n.188_189del
ENST00000642936.1:c.131_132del ENSP00000494514.1:p.Ile44ThrfsTer22
ENST00000643088.1:c.131_132del ENSP00000494747.1:p.Ile44ThrfsTer22
ENST00000643149.1:n.241_242del
ENST00000643298.1:c.131_132del ENSP00000494393.1:p.Ile44ThrfsTer22
ENST00000643745.1:c.131_132del ENSP00000495948.1:p.Ile44ThrfsTer22
ENST00000643946.1:c.131_132del ENSP00000495927.1:p.Ile44ThrfsTer22
ENST00000644043.1:c.131_132del ENSP00000496262.1:p.Ile44ThrfsTer22
ENST00000644135.1:c.131_132del ENSP00000495644.1:p.Ile44ThrfsTer22
ENST00000644222.1:n.218_219del
ENST00000644329.1:c.131_132del ENSP00000496611.1:p.Ile44ThrfsTer22
ENST00000644335.1:c.131_132del ENSP00000496317.1:p.Ile44ThrfsTer22
ENST00000644399.1:c.124_125del
ENST00000644665.1:n.248_249del
ENST00000645591.1:n.259_260del
ENST00000646388.1:c.131_132del ENSP00000495921.1:p.Ile44ThrfsTer22
ENST00000647234.1:n.6_7del
ENST00000219476.7:c.131_132del ENSP00000219476.3:p.Ile44ThrfsTer22
ENST00000350773.8:c.131_132del ENSP00000344383.4:p.Ile44ThrfsTer22
ENST00000382538.10:c.-10+681_-10+682del ENSP00000371978.6:n.-10+681_-10+682del
ENST00000401874.6:c.131_132del ENSP00000384468.2:p.Ile44ThrfsTer22
ENST00000439117.6:c.131_132del ENSP00000406980.2:p.Ile44ThrfsTer22
ENST00000439673.6:c.131_132del ENSP00000399232.2:p.Ile44ThrfsTer22
ENST00000461648.2:n.236_237del
ENST00000568454.5:c.164_165del ENSP00000454487.1:p.Ile55ThrfsTer22
NM_000548.3:c.131_132del , LRG_487t1:c.131_132del NP_000539.2:p.Ile44ThrfsTer22
NM_001077183.1:c.131_132del NP_001070651.1:p.Ile44ThrfsTer22
NM_001114382.1:c.131_132del NP_001107854.1:p.Ile44ThrfsTer22
XM_005255529.3:c.131_132del XP_005255586.2:p.Ile44ThrfsTer22
XM_005255531.3:c.131_132del XP_005255588.2:p.Ile44ThrfsTer22
XM_011522636.1:c.131_132del XP_011520938.1:p.Ile44ThrfsTer22
XM_011522637.1:c.131_132del XP_011520939.1:p.Ile44ThrfsTer22
XM_011522638.1:c.131_132del XP_011520940.1:p.Ile44ThrfsTer22
XM_011522639.1:c.131_132del XP_011520941.1:p.Ile44ThrfsTer22
XM_011522640.1:c.131_132del XP_011520942.1:p.Ile44ThrfsTer22
XM_011522641.1:c.131_132del XP_011520943.1:p.Ile44ThrfsTer22
NM_000548.4:c.131_132del NP_000539.2:p.Ile44ThrfsTer22
NM_001077183.2:c.131_132del NP_001070651.1:p.Ile44ThrfsTer22
NM_001114382.2:c.131_132del NP_001107854.1:p.Ile44ThrfsTer22
NM_001318827.1:c.131_132del NP_001305756.1:p.Ile44ThrfsTer22
NM_001318829.1:c.-10+681_-10+682del NP_001305758.1:n.-10+681_-10+682del
NM_001318831.1:c.-96_-95del NP_001305760.1:n.-96_-95del
NM_001318832.1:c.164_165del NP_001305761.1:p.Ile55ThrfsTer22
NM_001363528.1:c.131_132del NP_001350457.1:p.Ile44ThrfsTer22
NM_021055.2:c.131_132del NP_066399.2:p.Ile44ThrfsTer22
XM_005255531.4:c.131_132del XP_005255588.2:p.Ile44ThrfsTer22
XM_011522636.2:c.131_132del XP_011520938.1:p.Ile44ThrfsTer22
XM_011522637.2:c.131_132del XP_011520939.1:p.Ile44ThrfsTer22
XM_011522638.2:c.404_405del XP_011520940.2:p.Ile135ThrfsTer22
XM_011522639.2:c.131_132del XP_011520941.1:p.Ile44ThrfsTer22
XM_011522640.2:c.131_132del XP_011520942.1:p.Ile44ThrfsTer22
XM_017023615.1:c.131_132del XP_016879104.1:p.Ile44ThrfsTer22
XM_017023616.1:c.131_132del XP_016879105.1:p.Ile44ThrfsTer22
XM_017023617.1:c.404_405del XP_016879106.1:p.Ile135ThrfsTer22
XM_017023618.1:c.-1301_-1300del XP_016879107.1:n.-1301_-1300del
XM_024450413.1:c.131_132del XP_024306181.1:p.Ile44ThrfsTer22
NM_000548.5:c.131_132del MANE Select NP_000539.2:p.Ile44ThrfsTer22
NM_001370404.1:c.131_132del NP_001357333.1:p.Ile44ThrfsTer22
NM_001370405.1:c.131_132del NP_001357334.1:p.Ile44ThrfsTer22
NM_001077183.3:c.131_132del NP_001070651.1:p.Ile44ThrfsTer22
NM_001114382.3:c.131_132del NP_001107854.1:p.Ile44ThrfsTer22
NM_001318827.2:c.131_132del NP_001305756.1:p.Ile44ThrfsTer22
NM_001318829.2:c.-10+681_-10+682del NP_001305758.1:n.-10+681_-10+682del
NM_001318831.2:c.-96_-95del NP_001305760.1:n.-96_-95del
NM_001318832.2:c.164_165del NP_001305761.1:p.Ile55ThrfsTer22
NM_001363528.2:c.131_132del NP_001350457.1:p.Ile44ThrfsTer22
NM_021055.3:c.131_132del NP_066399.2:p.Ile44ThrfsTer22
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