Canonical Allele Identifier: CA16614837
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406134
ClinVar RCV Id: RCV000464189
dbSNP Id: rs1064792923
MyVariant Identifiers: chr16:g.2138468_2138483del (hg19) chr16:g.2088467_2088482del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088467_2088482del , CM000678.2:g.2088467_2088482del GRCh38
NC_000016.9:g.2138468_2138483del , CM000678.1:g.2138468_2138483del GRCh37
NC_000016.8:g.2078469_2078484del NCBI36
NG_005895.1:g.44162_44177del , LRG_487:g.44162_44177del
NG_008617.1:g.54745_54760del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*3630_*3645del ENSP00000455997.2:n.*3630_*3645del
ENST00000642206.2:c.5128_5143del ENSP00000495146.2:p.Ser1710LeufsTer?
ENST00000642365.2:c.5278_5293del ENSP00000495459.2:p.Ser1760LeufsTer?
ENST00000644417.2:c.*5794_*5809del ENSP00000493912.2:n.*5794_*5809del
ENST00000646464.2:c.*8030_*8045del ENSP00000496610.2:n.*8030_*8045del
ENST00000219476.9:c.5281_5296del MANE Select ENSP00000219476.3:p.Ser1761LeufsTer?
ENST00000350773.9:c.5212_5227del ENSP00000344383.4:p.Ser1738LeufsTer?
ENST00000401874.7:c.5080_5095del ENSP00000384468.2:p.Ser1694LeufsTer?
ENST00000568454.6:c.5113_5128del ENSP00000454487.1:p.Ser1705LeufsTer?
ENST00000569110.2:c.1504_1519del
ENST00000569930.2:n.3163_3178del
ENST00000642365.1:c.3935_3950del
ENST00000642561.1:c.5140_5155del ENSP00000495099.1:p.Ser1714LeufsTer?
ENST00000642791.1:n.878_893del
ENST00000642797.1:c.5083_5098del ENSP00000493846.1:p.Ser1695LeufsTer?
ENST00000642936.1:c.5149_5164del ENSP00000494514.1:p.Ser1717LeufsTer?
ENST00000643088.1:c.5074_5089del ENSP00000494747.1:p.Ser1692LeufsTer?
ENST00000643426.1:n.2929_2944del
ENST00000643946.1:c.5206_5221del ENSP00000495927.1:p.Ser1736LeufsTer?
ENST00000644043.1:c.5152_5167del ENSP00000496262.1:p.Ser1718LeufsTer?
ENST00000644329.1:c.5167_5182del ENSP00000496611.1:p.Ser1723LeufsTer?
ENST00000644335.1:c.5077_5092del ENSP00000496317.1:p.Ser1693LeufsTer?
ENST00000644399.1:c.5202_5217del
ENST00000645024.1:n.3365_3380del
ENST00000646388.1:c.5275_5290del ENSP00000495921.1:p.Ser1759LeufsTer?
ENST00000646634.1:n.4096_4111del
ENST00000646674.1:n.2533_2548del
ENST00000647042.1:n.2504_2519del
ENST00000647180.1:n.2394_2409del
ENST00000219476.7:c.5281_5296del ENSP00000219476.3:p.Ser1761LeufsTer?
ENST00000350773.8:c.5212_5227del ENSP00000344383.4:p.Ser1738LeufsTer?
ENST00000382538.10:c.4936_4951del ENSP00000371978.6:p.Ser1646LeufsTer?
ENST00000401874.6:c.5080_5095del ENSP00000384468.2:p.Ser1694LeufsTer?
ENST00000439117.6:c.*4448_*4463del ENSP00000406980.2:n.*4448_*4463del
ENST00000439673.6:c.4972_4987del ENSP00000399232.2:p.Ser1658LeufsTer?
ENST00000497886.5:n.3004_3019del
ENST00000568454.5:c.5113_5128del ENSP00000454487.1:p.Ser1705LeufsTer?
ENST00000569110.1:c.1463_1478del
ENST00000569930.1:n.2396_2411del
NM_000548.3:c.5281_5296del , LRG_487t1:c.5281_5296del NP_000539.2:p.Ser1761LeufsTer?
NM_001077183.1:c.5080_5095del NP_001070651.1:p.Ser1694LeufsTer?
NM_001114382.1:c.5212_5227del NP_001107854.1:p.Ser1738LeufsTer?
XM_005255529.3:c.5152_5167del XP_005255586.2:p.Ser1718LeufsTer?
XM_005255531.3:c.5083_5098del XP_005255588.2:p.Ser1695LeufsTer?
XM_011522636.1:c.5335_5350del XP_011520938.1:p.Ser1779LeufsTer?
XM_011522637.1:c.5332_5347del XP_011520939.1:p.Ser1778LeufsTer?
XM_011522638.1:c.5224_5239del XP_011520940.1:p.Ser1742LeufsTer?
XM_011522639.1:c.5206_5221del XP_011520941.1:p.Ser1736LeufsTer?
XM_011522640.1:c.5203_5218del XP_011520942.1:p.Ser1735LeufsTer?
XM_011522641.1:c.4972_4987del XP_011520943.1:p.Ser1658LeufsTer?
NM_000548.4:c.5281_5296del NP_000539.2:p.Ser1761LeufsTer?
NM_001077183.2:c.5080_5095del NP_001070651.1:p.Ser1694LeufsTer?
NM_001114382.2:c.5212_5227del NP_001107854.1:p.Ser1738LeufsTer?
NM_001318827.1:c.4972_4987del NP_001305756.1:p.Ser1658LeufsTer?
NM_001318829.1:c.4936_4951del NP_001305758.1:p.Ser1646LeufsTer?
NM_001318831.1:c.4549_4564del NP_001305760.1:p.Ser1517LeufsTer?
NM_001318832.1:c.5113_5128del NP_001305761.1:p.Ser1705LeufsTer?
NM_001363528.1:c.5083_5098del NP_001350457.1:p.Ser1695LeufsTer?
NM_021055.2:c.5152_5167del NP_066399.2:p.Ser1718LeufsTer?
XM_005255531.4:c.5083_5098del XP_005255588.2:p.Ser1695LeufsTer?
XM_011522636.2:c.5335_5350del XP_011520938.1:p.Ser1779LeufsTer?
XM_011522637.2:c.5332_5347del XP_011520939.1:p.Ser1778LeufsTer?
XM_011522638.2:c.5497_5512del XP_011520940.2:p.Ser1833LeufsTer?
XM_011522639.2:c.5206_5221del XP_011520941.1:p.Ser1736LeufsTer?
XM_011522640.2:c.5203_5218del XP_011520942.1:p.Ser1735LeufsTer?
XM_017023615.1:c.5278_5293del XP_016879104.1:p.Ser1760LeufsTer?
XM_017023616.1:c.5149_5164del XP_016879105.1:p.Ser1717LeufsTer?
XM_017023617.1:c.5245_5260del XP_016879106.1:p.Ser1749LeufsTer?
XM_017023618.1:c.3991_4006del XP_016879107.1:p.Ser1331LeufsTer?
XM_024450413.1:c.5167_5182del XP_024306181.1:p.Ser1723LeufsTer?
NM_000548.5:c.5281_5296del MANE Select NP_000539.2:p.Ser1761LeufsTer?
NM_001370404.1:c.5149_5164del NP_001357333.1:p.Ser1717LeufsTer?
NM_001370405.1:c.5140_5155del NP_001357334.1:p.Ser1714LeufsTer?
NM_001077183.3:c.5080_5095del NP_001070651.1:p.Ser1694LeufsTer?
NM_001114382.3:c.5212_5227del NP_001107854.1:p.Ser1738LeufsTer?
NM_001318827.2:c.4972_4987del NP_001305756.1:p.Ser1658LeufsTer?
NM_001318829.2:c.4936_4951del NP_001305758.1:p.Ser1646LeufsTer?
NM_001318831.2:c.4549_4564del NP_001305760.1:p.Ser1517LeufsTer?
NM_001318832.2:c.5113_5128del NP_001305761.1:p.Ser1705LeufsTer?
NM_001363528.2:c.5083_5098del NP_001350457.1:p.Ser1695LeufsTer?
NM_021055.3:c.5152_5167del NP_066399.2:p.Ser1718LeufsTer?
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