Canonical Allele Identifier: CA022559
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50038
ClinVar RCV Id: RCV000043304 RCV000201021
dbSNP Id: rs137854359
MyVariant Identifiers: chr16:g.2105490dupA (hg19) chr16:g.2055489dupA (hg38)
PubMed: PMID:10735580
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2055489dup , CM000678.2:g.2055489dup GRCh38
NC_000016.9:g.2105490dup , CM000678.1:g.2105490dup GRCh37
NC_000016.8:g.2045491dup NCBI36
NG_005895.1:g.11184dup , LRG_487:g.11184dup

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.569dup ENSP00000455997.2:p.Tyr190Ter
ENST00000642206.2:c.614dup ENSP00000495146.2:p.Tyr205Ter
ENST00000642365.2:c.569dup ENSP00000495459.2:p.Tyr190Ter
ENST00000644417.2:c.*6dup ENSP00000493912.2:n.*6dup
ENST00000646464.2:c.226-491dup ENSP00000496610.2:n.226-491dup
ENST00000219476.9:c.569dup MANE Select ENSP00000219476.3:p.Tyr190Ter
ENST00000350773.9:c.569dup ENSP00000344383.4:p.Tyr190Ter
ENST00000401874.7:c.569dup ENSP00000384468.2:p.Tyr190Ter
ENST00000432909.3:c.343dup
ENST00000461648.3:n.2483dup
ENST00000568454.6:c.602dup ENSP00000454487.1:p.Tyr201Ter
ENST00000568692.2:n.1292dup
ENST00000642561.1:c.569dup ENSP00000495099.1:p.Tyr190Ter
ENST00000642797.1:c.569dup ENSP00000493846.1:p.Tyr190Ter
ENST00000642812.1:n.626dup
ENST00000642936.1:c.569dup ENSP00000494514.1:p.Tyr190Ter
ENST00000643088.1:c.569dup ENSP00000494747.1:p.Tyr190Ter
ENST00000643120.1:n.593dup
ENST00000643149.1:n.1522dup
ENST00000643298.1:c.569dup ENSP00000494393.1:p.Tyr190Ter
ENST00000643745.1:c.569dup ENSP00000495948.1:p.Tyr190Ter
ENST00000643946.1:c.569dup ENSP00000495927.1:p.Tyr190Ter
ENST00000644043.1:c.569dup ENSP00000496262.1:p.Tyr190Ter
ENST00000644135.1:c.569dup ENSP00000495644.1:p.Tyr190Ter
ENST00000644222.1:n.656dup
ENST00000644329.1:c.569dup ENSP00000496611.1:p.Tyr190Ter
ENST00000644335.1:c.569dup ENSP00000496317.1:p.Tyr190Ter
ENST00000644399.1:c.562dup
ENST00000644417.1:c.267dup ENSP00000493912.1:n.267dup
ENST00000644665.1:n.686dup
ENST00000645591.1:n.1540dup
ENST00000646388.1:c.569dup ENSP00000495921.1:p.Tyr190Ter
ENST00000646823.1:n.957dup
ENST00000647234.1:n.1270dup
ENST00000647242.1:n.1237dup
ENST00000219476.7:c.569dup ENSP00000219476.3:p.Tyr190Ter
ENST00000350773.8:c.569dup ENSP00000344383.4:p.Tyr190Ter
ENST00000382538.10:c.422dup ENSP00000371978.6:p.Tyr141Ter
ENST00000401874.6:c.569dup ENSP00000384468.2:p.Tyr190Ter
ENST00000432909.2:c.343dup
ENST00000439117.6:c.226-707dup ENSP00000406980.2:n.226-707dup
ENST00000439673.6:c.458dup ENSP00000399232.2:p.Tyr153Ter
ENST00000568454.5:c.602dup ENSP00000454487.1:p.Tyr201Ter
ENST00000568692.1:n.233dup
NM_000548.3:c.569dup , LRG_487t1:c.569dup NP_000539.2:p.Tyr190Ter
NM_001077183.1:c.569dup NP_001070651.1:p.Tyr190Ter
NM_001114382.1:c.569dup NP_001107854.1:p.Tyr190Ter
XM_005255529.3:c.569dup XP_005255586.2:p.Tyr190Ter
XM_005255531.3:c.569dup XP_005255588.2:p.Tyr190Ter
XM_011522636.1:c.569dup XP_011520938.1:p.Tyr190Ter
XM_011522637.1:c.569dup XP_011520939.1:p.Tyr190Ter
XM_011522638.1:c.458dup XP_011520940.1:p.Tyr153Ter
XM_011522639.1:c.569dup XP_011520941.1:p.Tyr190Ter
XM_011522640.1:c.569dup XP_011520942.1:p.Tyr190Ter
XM_011522641.1:c.458dup XP_011520943.1:p.Tyr153Ter
NM_000548.4:c.569dup NP_000539.2:p.Tyr190Ter
NM_001077183.2:c.569dup NP_001070651.1:p.Tyr190Ter
NM_001114382.2:c.569dup NP_001107854.1:p.Tyr190Ter
NM_001318827.1:c.458dup NP_001305756.1:p.Tyr153Ter
NM_001318829.1:c.422dup NP_001305758.1:p.Tyr141Ter
NM_001318831.1:c.-1-707dup NP_001305760.1:n.-1-707dup
NM_001318832.1:c.602dup NP_001305761.1:p.Tyr201Ter
NM_001363528.1:c.569dup NP_001350457.1:p.Tyr190Ter
NM_021055.2:c.569dup NP_066399.2:p.Tyr190Ter
XM_005255531.4:c.569dup XP_005255588.2:p.Tyr190Ter
XM_011522636.2:c.569dup XP_011520938.1:p.Tyr190Ter
XM_011522637.2:c.569dup XP_011520939.1:p.Tyr190Ter
XM_011522638.2:c.731dup XP_011520940.2:p.Tyr244Ter
XM_011522639.2:c.569dup XP_011520941.1:p.Tyr190Ter
XM_011522640.2:c.569dup XP_011520942.1:p.Tyr190Ter
XM_017023615.1:c.569dup XP_016879104.1:p.Tyr190Ter
XM_017023616.1:c.569dup XP_016879105.1:p.Tyr190Ter
XM_017023617.1:c.731dup XP_016879106.1:p.Tyr244Ter
XM_017023618.1:c.-863dup XP_016879107.1:n.-863dup
XM_024450413.1:c.569dup XP_024306181.1:p.Tyr190Ter
NM_000548.5:c.569dup MANE Select NP_000539.2:p.Tyr190Ter
NM_001370404.1:c.569dup NP_001357333.1:p.Tyr190Ter
NM_001370405.1:c.569dup NP_001357334.1:p.Tyr190Ter
NM_001077183.3:c.569dup NP_001070651.1:p.Tyr190Ter
NM_001114382.3:c.569dup NP_001107854.1:p.Tyr190Ter
NM_001318827.2:c.458dup NP_001305756.1:p.Tyr153Ter
NM_001318829.2:c.422dup NP_001305758.1:p.Tyr141Ter
NM_001318831.2:c.-1-707dup NP_001305760.1:n.-1-707dup
NM_001318832.2:c.602dup NP_001305761.1:p.Tyr201Ter
NM_001363528.2:c.569dup NP_001350457.1:p.Tyr190Ter
NM_021055.3:c.569dup NP_066399.2:p.Tyr190Ter
Search 100 bp 5'
Search 100 bp 3'