Canonical Allele Identifier: CA16614680
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406020
ClinVar RCV Id: RCV000473256
dbSNP Id: rs1060500938
MyVariant Identifiers: chr16:g.2124384_2124385del (hg19) chr16:g.2074383_2074384del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2074383_2074384del , CM000678.2:g.2074383_2074384del GRCh38
NC_000016.9:g.2124384_2124385del , CM000678.1:g.2124384_2124385del GRCh37
NC_000016.8:g.2064385_2064386del NCBI36
NG_005895.1:g.30078_30079del , LRG_487:g.30078_30079del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1086_*1087del ENSP00000455997.2:n.*1086_*1087del
ENST00000642206.2:c.2584_2585del ENSP00000495146.2:p.Leu862ValfsTer?
ENST00000642365.2:c.2539_2540del ENSP00000495459.2:p.Leu847ValfsTer?
ENST00000644417.2:c.*1976_*1977del ENSP00000493912.2:n.*1976_*1977del
ENST00000646464.2:c.*2184_*2185del ENSP00000496610.2:n.*2184_*2185del
ENST00000219476.9:c.2539_2540del MANE Select ENSP00000219476.3:p.Leu847ValfsTer?
ENST00000350773.9:c.2539_2540del ENSP00000344383.4:p.Leu847ValfsTer?
ENST00000401874.7:c.2539_2540del ENSP00000384468.2:p.Leu847ValfsTer?
ENST00000568454.6:c.2572_2573del ENSP00000454487.1:p.Leu858ValfsTer?
ENST00000642365.1:c.1196_1197del
ENST00000642561.1:c.2539_2540del ENSP00000495099.1:p.Leu847ValfsTer?
ENST00000642797.1:c.2539_2540del ENSP00000493846.1:p.Leu847ValfsTer?
ENST00000642936.1:c.2539_2540del ENSP00000494514.1:p.Leu847ValfsTer?
ENST00000643088.1:c.2539_2540del ENSP00000494747.1:p.Leu847ValfsTer?
ENST00000643298.1:c.*2041_*2042del ENSP00000494393.1:n.*2041_*2042del
ENST00000643946.1:c.2539_2540del ENSP00000495927.1:p.Leu847ValfsTer?
ENST00000644043.1:c.2539_2540del ENSP00000496262.1:p.Leu847ValfsTer?
ENST00000644329.1:c.2539_2540del ENSP00000496611.1:p.Leu847ValfsTer?
ENST00000644335.1:c.2539_2540del ENSP00000496317.1:p.Leu847ValfsTer?
ENST00000644399.1:c.2532_2533del
ENST00000644847.1:n.1531_1532del
ENST00000645024.1:n.821_822del
ENST00000645552.1:n.819_820del
ENST00000646388.1:c.2539_2540del ENSP00000495921.1:p.Leu847ValfsTer?
ENST00000646634.1:n.1552_1553del
ENST00000219476.7:c.2539_2540del ENSP00000219476.3:p.Leu847ValfsTer?
ENST00000350773.8:c.2539_2540del ENSP00000344383.4:p.Leu847ValfsTer?
ENST00000382538.10:c.2392_2393del ENSP00000371978.6:p.Leu798ValfsTer?
ENST00000401874.6:c.2539_2540del ENSP00000384468.2:p.Leu847ValfsTer?
ENST00000439117.6:c.*1838_*1839del ENSP00000406980.2:n.*1838_*1839del
ENST00000439673.6:c.2428_2429del ENSP00000399232.2:p.Leu810ValfsTer?
ENST00000463808.1:n.573_574del
ENST00000568454.5:c.2572_2573del ENSP00000454487.1:p.Leu858ValfsTer?
NM_000548.3:c.2539_2540del , LRG_487t1:c.2539_2540del NP_000539.2:p.Leu847ValfsTer?
NM_001077183.1:c.2539_2540del NP_001070651.1:p.Leu847ValfsTer?
NM_001114382.1:c.2539_2540del NP_001107854.1:p.Leu847ValfsTer?
XM_005255529.3:c.2539_2540del XP_005255586.2:p.Leu847ValfsTer?
XM_005255531.3:c.2539_2540del XP_005255588.2:p.Leu847ValfsTer?
XM_011522636.1:c.2539_2540del XP_011520938.1:p.Leu847ValfsTer?
XM_011522637.1:c.2539_2540del XP_011520939.1:p.Leu847ValfsTer?
XM_011522638.1:c.2428_2429del XP_011520940.1:p.Leu810ValfsTer?
XM_011522639.1:c.2539_2540del XP_011520941.1:p.Leu847ValfsTer?
XM_011522640.1:c.2539_2540del XP_011520942.1:p.Leu847ValfsTer?
XM_011522641.1:c.2428_2429del XP_011520943.1:p.Leu810ValfsTer?
NM_000548.4:c.2539_2540del NP_000539.2:p.Leu847ValfsTer?
NM_001077183.2:c.2539_2540del NP_001070651.1:p.Leu847ValfsTer?
NM_001114382.2:c.2539_2540del NP_001107854.1:p.Leu847ValfsTer?
NM_001318827.1:c.2428_2429del NP_001305756.1:p.Leu810ValfsTer?
NM_001318829.1:c.2392_2393del NP_001305758.1:p.Leu798ValfsTer?
NM_001318831.1:c.1939_1940del NP_001305760.1:p.Leu647ValfsTer?
NM_001318832.1:c.2572_2573del NP_001305761.1:p.Leu858ValfsTer?
NM_001363528.1:c.2539_2540del NP_001350457.1:p.Leu847ValfsTer?
NM_021055.2:c.2539_2540del NP_066399.2:p.Leu847ValfsTer?
XM_005255531.4:c.2539_2540del XP_005255588.2:p.Leu847ValfsTer?
XM_011522636.2:c.2539_2540del XP_011520938.1:p.Leu847ValfsTer?
XM_011522637.2:c.2539_2540del XP_011520939.1:p.Leu847ValfsTer?
XM_011522638.2:c.2701_2702del XP_011520940.2:p.Leu901ValfsTer?
XM_011522639.2:c.2539_2540del XP_011520941.1:p.Leu847ValfsTer?
XM_011522640.2:c.2539_2540del XP_011520942.1:p.Leu847ValfsTer?
XM_017023615.1:c.2539_2540del XP_016879104.1:p.Leu847ValfsTer?
XM_017023616.1:c.2539_2540del XP_016879105.1:p.Leu847ValfsTer?
XM_017023617.1:c.2701_2702del XP_016879106.1:p.Leu901ValfsTer?
XM_017023618.1:c.1195_1196del XP_016879107.1:p.Leu399ValfsTer?
XM_024450413.1:c.2539_2540del XP_024306181.1:p.Leu847ValfsTer?
NM_000548.5:c.2539_2540del MANE Select NP_000539.2:p.Leu847ValfsTer?
NM_001370404.1:c.2539_2540del NP_001357333.1:p.Leu847ValfsTer?
NM_001370405.1:c.2539_2540del NP_001357334.1:p.Leu847ValfsTer?
NM_001077183.3:c.2539_2540del NP_001070651.1:p.Leu847ValfsTer?
NM_001114382.3:c.2539_2540del NP_001107854.1:p.Leu847ValfsTer?
NM_001318827.2:c.2428_2429del NP_001305756.1:p.Leu810ValfsTer?
NM_001318829.2:c.2392_2393del NP_001305758.1:p.Leu798ValfsTer?
NM_001318831.2:c.1939_1940del NP_001305760.1:p.Leu647ValfsTer?
NM_001318832.2:c.2572_2573del NP_001305761.1:p.Leu858ValfsTer?
NM_001363528.2:c.2539_2540del NP_001350457.1:p.Leu847ValfsTer?
NM_021055.3:c.2539_2540del NP_066399.2:p.Leu847ValfsTer?
Search 100 bp 5'
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