Canonical Allele Identifier: CA16620104
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421466
ClinVar RCV Id: RCV000483888
dbSNP Id: rs1064795156
MyVariant Identifiers: chr16:g.2138118_2138129del (hg19) chr16:g.2088117_2088128del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088117_2088128del , CM000678.2:g.2088117_2088128del GRCh38
NC_000016.9:g.2138118_2138129del , CM000678.1:g.2138118_2138129del GRCh37
NC_000016.8:g.2078119_2078130del NCBI36
NG_005895.1:g.43812_43823del , LRG_487:g.43812_43823del
NG_008617.1:g.55099_55110del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*3487_*3498del ENSP00000455997.2:n.*3487_*3498del
ENST00000642206.2:c.4985_4996del ENSP00000495146.2:p.Arg1662_Ala1665del
ENST00000642365.2:c.5135_5146del ENSP00000495459.2:p.Arg1712_Ala1715del
ENST00000644417.2:c.*5651_*5662del ENSP00000493912.2:n.*5651_*5662del
ENST00000646464.2:c.*7887_*7898del ENSP00000496610.2:n.*7887_*7898del
ENST00000219476.9:c.5138_5149del MANE Select ENSP00000219476.3:p.Arg1713_Ala1716del
ENST00000350773.9:c.5069_5080del ENSP00000344383.4:p.Arg1690_Ala1693del
ENST00000401874.7:c.4937_4948del ENSP00000384468.2:p.Arg1646_Ala1649del
ENST00000568454.6:c.4970_4981del ENSP00000454487.1:p.Arg1657_Ala1660del
ENST00000569110.2:c.1361_1372del
ENST00000569930.2:n.3020_3031del
ENST00000642365.1:c.3792_3803del
ENST00000642561.1:c.5009_5020del ENSP00000495099.1:p.Arg1670_Ala1673del
ENST00000642791.1:n.735_746del
ENST00000642797.1:c.4940_4951del ENSP00000493846.1:p.Arg1647_Ala1650del
ENST00000642936.1:c.5006_5017del ENSP00000494514.1:p.Arg1669_Ala1672del
ENST00000643088.1:c.4931_4942del ENSP00000494747.1:p.Arg1644_Ala1647del
ENST00000643426.1:n.2786_2797del
ENST00000643946.1:c.5063_5074del ENSP00000495927.1:p.Arg1688_Ala1691del
ENST00000644043.1:c.5009_5020del ENSP00000496262.1:p.Arg1670_Ala1673del
ENST00000644329.1:c.4937_4948del ENSP00000496611.1:p.Arg1646_Ala1649del
ENST00000644335.1:c.4934_4945del ENSP00000496317.1:p.Arg1645_Ala1648del
ENST00000644399.1:c.5059_5070del
ENST00000645024.1:n.3222_3233del
ENST00000646388.1:c.5132_5143del ENSP00000495921.1:p.Arg1711_Ala1714del
ENST00000646634.1:n.3953_3964del
ENST00000646674.1:n.2390_2401del
ENST00000647042.1:n.2361_2372del
ENST00000647180.1:n.2251_2262del
ENST00000219476.7:c.5138_5149del ENSP00000219476.3:p.Arg1713_Ala1716del
ENST00000350773.8:c.5069_5080del ENSP00000344383.4:p.Arg1690_Ala1693del
ENST00000382538.10:c.4793_4804del ENSP00000371978.6:p.Arg1598_Ala1601del
ENST00000401874.6:c.4937_4948del ENSP00000384468.2:p.Arg1646_Ala1649del
ENST00000439117.6:c.*4305_*4316del ENSP00000406980.2:n.*4305_*4316del
ENST00000439673.6:c.4829_4840del ENSP00000399232.2:p.Arg1610_Ala1613del
ENST00000497886.5:n.2861_2872del
ENST00000568454.5:c.4970_4981del ENSP00000454487.1:p.Arg1657_Ala1660del
ENST00000569110.1:c.1320_1331del
ENST00000569930.1:n.2253_2264del
NM_000548.3:c.5138_5149del , LRG_487t1:c.5138_5149del NP_000539.2:p.Arg1713_Ala1716del
NM_001077183.1:c.4937_4948del NP_001070651.1:p.Arg1646_Ala1649del
NM_001114382.1:c.5069_5080del NP_001107854.1:p.Arg1690_Ala1693del
XM_005255529.3:c.5009_5020del XP_005255586.2:p.Arg1670_Ala1673del
XM_005255531.3:c.4940_4951del XP_005255588.2:p.Arg1647_Ala1650del
XM_011522636.1:c.5192_5203del XP_011520938.1:p.Arg1731_Ala1734del
XM_011522637.1:c.5189_5200del XP_011520939.1:p.Arg1730_Ala1733del
XM_011522638.1:c.5081_5092del XP_011520940.1:p.Arg1694_Ala1697del
XM_011522639.1:c.5063_5074del XP_011520941.1:p.Arg1688_Ala1691del
XM_011522640.1:c.5060_5071del XP_011520942.1:p.Arg1687_Ala1690del
XM_011522641.1:c.4829_4840del XP_011520943.1:p.Arg1610_Ala1613del
NM_000548.4:c.5138_5149del NP_000539.2:p.Arg1713_Ala1716del
NM_001077183.2:c.4937_4948del NP_001070651.1:p.Arg1646_Ala1649del
NM_001114382.2:c.5069_5080del NP_001107854.1:p.Arg1690_Ala1693del
NM_001318827.1:c.4829_4840del NP_001305756.1:p.Arg1610_Ala1613del
NM_001318829.1:c.4793_4804del NP_001305758.1:p.Arg1598_Ala1601del
NM_001318831.1:c.4406_4417del NP_001305760.1:p.Arg1469_Ala1472del
NM_001318832.1:c.4970_4981del NP_001305761.1:p.Arg1657_Ala1660del
NM_001363528.1:c.4940_4951del NP_001350457.1:p.Arg1647_Ala1650del
NM_021055.2:c.5009_5020del NP_066399.2:p.Arg1670_Ala1673del
XM_005255531.4:c.4940_4951del XP_005255588.2:p.Arg1647_Ala1650del
XM_011522636.2:c.5192_5203del XP_011520938.1:p.Arg1731_Ala1734del
XM_011522637.2:c.5189_5200del XP_011520939.1:p.Arg1730_Ala1733del
XM_011522638.2:c.5354_5365del XP_011520940.2:p.Arg1785_Ala1788del
XM_011522639.2:c.5063_5074del XP_011520941.1:p.Arg1688_Ala1691del
XM_011522640.2:c.5060_5071del XP_011520942.1:p.Arg1687_Ala1690del
XM_017023615.1:c.5135_5146del XP_016879104.1:p.Arg1712_Ala1715del
XM_017023616.1:c.5006_5017del XP_016879105.1:p.Arg1669_Ala1672del
XM_017023617.1:c.5102_5113del XP_016879106.1:p.Arg1701_Ala1704del
XM_017023618.1:c.3848_3859del XP_016879107.1:p.Arg1283_Ala1286del
XM_024450413.1:c.4937_4948del XP_024306181.1:p.Arg1646_Ala1649del
NM_000548.5:c.5138_5149del MANE Select NP_000539.2:p.Arg1713_Ala1716del
NM_001370404.1:c.5006_5017del NP_001357333.1:p.Arg1669_Ala1672del
NM_001370405.1:c.5009_5020del NP_001357334.1:p.Arg1670_Ala1673del
NM_001077183.3:c.4937_4948del NP_001070651.1:p.Arg1646_Ala1649del
NM_001114382.3:c.5069_5080del NP_001107854.1:p.Arg1690_Ala1693del
NM_001318827.2:c.4829_4840del NP_001305756.1:p.Arg1610_Ala1613del
NM_001318829.2:c.4793_4804del NP_001305758.1:p.Arg1598_Ala1601del
NM_001318831.2:c.4406_4417del NP_001305760.1:p.Arg1469_Ala1472del
NM_001318832.2:c.4970_4981del NP_001305761.1:p.Arg1657_Ala1660del
NM_001363528.2:c.4940_4951del NP_001350457.1:p.Arg1647_Ala1650del
NM_021055.3:c.5009_5020del NP_066399.2:p.Arg1670_Ala1673del
Search 100 bp 5'
Search 100 bp 3'