Canonical Allele Identifier: CA016517
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12395
ClinVar RCV Id: RCV000013203 RCV000043367
dbSNP Id: rs137854337
MyVariant Identifiers: chr16:g.2121894_2121897dupTACT (hg19) chr16:g.2071893_2071896dupTACT (hg38)
PubMed: PMID:1870099 PMID:4461062 PMID:7823706 PMID:9361032
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2071893_2071896dup , CM000678.2:g.2071893_2071896dup GRCh38
NC_000016.9:g.2121894_2121897dup , CM000678.1:g.2121894_2121897dup GRCh37
NC_000016.8:g.2061895_2061898dup NCBI36
NG_005895.1:g.27588_27591dup , LRG_487:g.27588_27591dup

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*603_*606dup ENSP00000455997.2:n.*603_*606dup
ENST00000642206.2:c.2101_2104dup ENSP00000495146.2:p.Ser702LeufsTer17
ENST00000642365.2:c.2056_2059dup ENSP00000495459.2:p.Ser687LeufsTer17
ENST00000644417.2:c.*1493_*1496dup ENSP00000493912.2:n.*1493_*1496dup
ENST00000646464.2:c.*1661_*1664dup ENSP00000496610.2:n.*1661_*1664dup
ENST00000219476.9:c.2056_2059dup MANE Select ENSP00000219476.3:p.Ser687LeufsTer17
ENST00000350773.9:c.2056_2059dup ENSP00000344383.4:p.Ser687LeufsTer17
ENST00000401874.7:c.2056_2059dup ENSP00000384468.2:p.Ser687LeufsTer17
ENST00000563346.2:n.234_237dup
ENST00000568454.6:c.2089_2092dup ENSP00000454487.1:p.Ser698LeufsTer17
ENST00000642365.1:c.713_716dup
ENST00000642561.1:c.2056_2059dup ENSP00000495099.1:p.Ser687LeufsTer17
ENST00000642797.1:c.2056_2059dup ENSP00000493846.1:p.Ser687LeufsTer17
ENST00000642936.1:c.2056_2059dup ENSP00000494514.1:p.Ser687LeufsTer17
ENST00000643088.1:c.2056_2059dup ENSP00000494747.1:p.Ser687LeufsTer17
ENST00000643298.1:c.*1558_*1561dup ENSP00000494393.1:n.*1558_*1561dup
ENST00000643946.1:c.2056_2059dup ENSP00000495927.1:p.Ser687LeufsTer17
ENST00000644043.1:c.2056_2059dup ENSP00000496262.1:p.Ser687LeufsTer17
ENST00000644329.1:c.2056_2059dup ENSP00000496611.1:p.Ser687LeufsTer17
ENST00000644335.1:c.2056_2059dup ENSP00000496317.1:p.Ser687LeufsTer17
ENST00000644399.1:c.2049_2052dup
ENST00000644847.1:n.1048_1051dup
ENST00000645024.1:n.338_341dup
ENST00000645552.1:n.336_339dup
ENST00000646388.1:c.2056_2059dup ENSP00000495921.1:p.Ser687LeufsTer17
ENST00000646464.1:c.109_112dup ENSP00000496610.1:p.Ser38LeufsTer?
ENST00000646634.1:n.1069_1072dup
ENST00000219476.7:c.2056_2059dup ENSP00000219476.3:p.Ser687LeufsTer17
ENST00000350773.8:c.2056_2059dup ENSP00000344383.4:p.Ser687LeufsTer17
ENST00000382538.10:c.1909_1912dup ENSP00000371978.6:p.Ser638LeufsTer17
ENST00000401874.6:c.2056_2059dup ENSP00000384468.2:p.Ser687LeufsTer17
ENST00000439117.6:c.*1355_*1358dup ENSP00000406980.2:n.*1355_*1358dup
ENST00000439673.6:c.1945_1948dup ENSP00000399232.2:p.Ser650LeufsTer17
ENST00000488675.5:n.563_566dup
ENST00000563346.1:n.125_128dup
ENST00000568454.5:c.2089_2092dup ENSP00000454487.1:p.Ser698LeufsTer17
NM_000548.3:c.2056_2059dup , LRG_487t1:c.2056_2059dup NP_000539.2:p.Ser687LeufsTer17
NM_001077183.1:c.2056_2059dup NP_001070651.1:p.Ser687LeufsTer17
NM_001114382.1:c.2056_2059dup NP_001107854.1:p.Ser687LeufsTer17
XM_005255529.3:c.2056_2059dup XP_005255586.2:p.Ser687LeufsTer17
XM_005255531.3:c.2056_2059dup XP_005255588.2:p.Ser687LeufsTer17
XM_011522636.1:c.2056_2059dup XP_011520938.1:p.Ser687LeufsTer17
XM_011522637.1:c.2056_2059dup XP_011520939.1:p.Ser687LeufsTer17
XM_011522638.1:c.1945_1948dup XP_011520940.1:p.Ser650LeufsTer17
XM_011522639.1:c.2056_2059dup XP_011520941.1:p.Ser687LeufsTer17
XM_011522640.1:c.2056_2059dup XP_011520942.1:p.Ser687LeufsTer17
XM_011522641.1:c.1945_1948dup XP_011520943.1:p.Ser650LeufsTer17
NM_000548.4:c.2056_2059dup NP_000539.2:p.Ser687LeufsTer17
NM_001077183.2:c.2056_2059dup NP_001070651.1:p.Ser687LeufsTer17
NM_001114382.2:c.2056_2059dup NP_001107854.1:p.Ser687LeufsTer17
NM_001318827.1:c.1945_1948dup NP_001305756.1:p.Ser650LeufsTer17
NM_001318829.1:c.1909_1912dup NP_001305758.1:p.Ser638LeufsTer17
NM_001318831.1:c.1456_1459dup NP_001305760.1:p.Ser487LeufsTer17
NM_001318832.1:c.2089_2092dup NP_001305761.1:p.Ser698LeufsTer17
NM_001363528.1:c.2056_2059dup NP_001350457.1:p.Ser687LeufsTer17
NM_021055.2:c.2056_2059dup NP_066399.2:p.Ser687LeufsTer17
XM_005255531.4:c.2056_2059dup XP_005255588.2:p.Ser687LeufsTer17
XM_011522636.2:c.2056_2059dup XP_011520938.1:p.Ser687LeufsTer17
XM_011522637.2:c.2056_2059dup XP_011520939.1:p.Ser687LeufsTer17
XM_011522638.2:c.2218_2221dup XP_011520940.2:p.Ser741LeufsTer17
XM_011522639.2:c.2056_2059dup XP_011520941.1:p.Ser687LeufsTer17
XM_011522640.2:c.2056_2059dup XP_011520942.1:p.Ser687LeufsTer17
XM_017023615.1:c.2056_2059dup XP_016879104.1:p.Ser687LeufsTer17
XM_017023616.1:c.2056_2059dup XP_016879105.1:p.Ser687LeufsTer17
XM_017023617.1:c.2218_2221dup XP_016879106.1:p.Ser741LeufsTer17
XM_017023618.1:c.712_715dup XP_016879107.1:p.Ser239LeufsTer17
XM_024450413.1:c.2056_2059dup XP_024306181.1:p.Ser687LeufsTer17
NM_000548.5:c.2056_2059dup MANE Select NP_000539.2:p.Ser687LeufsTer17
NM_001370404.1:c.2056_2059dup NP_001357333.1:p.Ser687LeufsTer17
NM_001370405.1:c.2056_2059dup NP_001357334.1:p.Ser687LeufsTer17
NM_001077183.3:c.2056_2059dup NP_001070651.1:p.Ser687LeufsTer17
NM_001114382.3:c.2056_2059dup NP_001107854.1:p.Ser687LeufsTer17
NM_001318827.2:c.1945_1948dup NP_001305756.1:p.Ser650LeufsTer17
NM_001318829.2:c.1909_1912dup NP_001305758.1:p.Ser638LeufsTer17
NM_001318831.2:c.1456_1459dup NP_001305760.1:p.Ser487LeufsTer17
NM_001318832.2:c.2089_2092dup NP_001305761.1:p.Ser698LeufsTer17
NM_001363528.2:c.2056_2059dup NP_001350457.1:p.Ser687LeufsTer17
NM_021055.3:c.2056_2059dup NP_066399.2:p.Ser687LeufsTer17
Search 100 bp 5'
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