Canonical Allele Identifier: CA021129

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49966
• ClinVar RCV Id: RCV000043233
• dbSNP Id: rs137854227
• MyVariant Identifiers: chr16:g.2136735_2136743del (hg19) ; chr16:g.2086734_2086742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086734_2086742del , CM000678.2:g.2086734_2086742del	GRCh38
NC_000016.9:g.2136735_2136743del , CM000678.1:g.2136735_2136743del	GRCh37
NC_000016.8:g.2076736_2076744del	NCBI36
NG_005895.1:g.42429_42437del , LRG_487:g.42429_42437del
NG_008617.1:g.56480_56488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3201_*3209del	ENSP00000455997.2:n.*3201_*3209del
ENST00000642206.2:c.4699_4707del	ENSP00000495146.2:p.Val1567_His1569del
ENST00000642365.2:c.4849_4857del	ENSP00000495459.2:p.Val1617_His1619del
ENST00000644417.2:c.*5365_*5373del	ENSP00000493912.2:n.*5365_*5373del
ENST00000646464.2:c.*7601_*7609del	ENSP00000496610.2:n.*7601_*7609del
ENST00000219476.9:c.4852_4860del MANE Select	ENSP00000219476.3:p.Val1618_His1620del
ENST00000350773.9:c.4783_4791del	ENSP00000344383.4:p.Val1595_His1597del
ENST00000401874.7:c.4651_4659del	ENSP00000384468.2:p.Val1551_His1553del
ENST00000568454.6:c.4684_4692del	ENSP00000454487.1:p.Val1562_His1564del
ENST00000569110.2:c.1075_1083del
ENST00000569930.2:n.2734_2742del
ENST00000642365.1:c.3506_3514del
ENST00000642561.1:c.4723_4731del	ENSP00000495099.1:p.Val1575_His1577del
ENST00000642728.1:n.1034_1042del
ENST00000642791.1:n.449_457del
ENST00000642797.1:c.4654_4662del	ENSP00000493846.1:p.Val1552_His1554del
ENST00000642936.1:c.4720_4728del	ENSP00000494514.1:p.Val1574_His1576del
ENST00000643088.1:c.4645_4653del	ENSP00000494747.1:p.Val1549_His1551del
ENST00000643177.1:n.866_874del
ENST00000643426.1:n.2500_2508del
ENST00000643946.1:c.4777_4785del	ENSP00000495927.1:p.Val1593_His1595del
ENST00000644043.1:c.4723_4731del	ENSP00000496262.1:p.Val1575_His1577del
ENST00000644278.1:n.334_342del
ENST00000644329.1:c.4651_4659del	ENSP00000496611.1:p.Val1551_His1553del
ENST00000644335.1:c.4648_4656del	ENSP00000496317.1:p.Val1550_His1552del
ENST00000644399.1:c.4773_4781del
ENST00000645024.1:n.2936_2944del
ENST00000646388.1:c.4846_4854del	ENSP00000495921.1:p.Val1616_His1618del
ENST00000646557.1:n.13_21del
ENST00000646634.1:n.3667_3675del
ENST00000646674.1:n.2104_2112del
ENST00000647042.1:n.2075_2083del
ENST00000647180.1:n.1965_1973del
ENST00000219476.7:c.4852_4860del	ENSP00000219476.3:p.Val1618_His1620del
ENST00000350773.8:c.4783_4791del	ENSP00000344383.4:p.Val1595_His1597del
ENST00000382538.10:c.4507_4515del	ENSP00000371978.6:p.Val1503_His1505del
ENST00000401874.6:c.4651_4659del	ENSP00000384468.2:p.Val1551_His1553del
ENST00000439117.6:c.*4019_*4027del	ENSP00000406980.2:n.*4019_*4027del
ENST00000439673.6:c.4543_4551del	ENSP00000399232.2:p.Val1515_His1517del
ENST00000497886.5:n.2608-33_2608-25del
ENST00000568454.5:c.4684_4692del	ENSP00000454487.1:p.Val1562_His1564del
ENST00000569110.1:c.1034_1042del
ENST00000569930.1:n.1967_1975del
NM_000548.3:c.4852_4860del , LRG_487t1:c.4852_4860del	NP_000539.2:p.Val1618_His1620del
NM_001077183.1:c.4651_4659del	NP_001070651.1:p.Val1551_His1553del
NM_001114382.1:c.4783_4791del	NP_001107854.1:p.Val1595_His1597del
XM_005255529.3:c.4723_4731del	XP_005255586.2:p.Val1575_His1577del
XM_005255531.3:c.4654_4662del	XP_005255588.2:p.Val1552_His1554del
XM_011522636.1:c.4906_4914del	XP_011520938.1:p.Val1636_His1638del
XM_011522637.1:c.4903_4911del	XP_011520939.1:p.Val1635_His1637del
XM_011522638.1:c.4795_4803del	XP_011520940.1:p.Val1599_His1601del
XM_011522639.1:c.4777_4785del	XP_011520941.1:p.Val1593_His1595del
XM_011522640.1:c.4774_4782del	XP_011520942.1:p.Val1592_His1594del
XM_011522641.1:c.4543_4551del	XP_011520943.1:p.Val1515_His1517del
NM_000548.4:c.4852_4860del	NP_000539.2:p.Val1618_His1620del
NM_001077183.2:c.4651_4659del	NP_001070651.1:p.Val1551_His1553del
NM_001114382.2:c.4783_4791del	NP_001107854.1:p.Val1595_His1597del
NM_001318827.1:c.4543_4551del	NP_001305756.1:p.Val1515_His1517del
NM_001318829.1:c.4507_4515del	NP_001305758.1:p.Val1503_His1505del
NM_001318831.1:c.4120_4128del	NP_001305760.1:p.Val1374_His1376del
NM_001318832.1:c.4684_4692del	NP_001305761.1:p.Val1562_His1564del
NM_001363528.1:c.4654_4662del	NP_001350457.1:p.Val1552_His1554del
NM_021055.2:c.4723_4731del	NP_066399.2:p.Val1575_His1577del
XM_005255531.4:c.4654_4662del	XP_005255588.2:p.Val1552_His1554del
XM_011522636.2:c.4906_4914del	XP_011520938.1:p.Val1636_His1638del
XM_011522637.2:c.4903_4911del	XP_011520939.1:p.Val1635_His1637del
XM_011522638.2:c.5068_5076del	XP_011520940.2:p.Val1690_His1692del
XM_011522639.2:c.4777_4785del	XP_011520941.1:p.Val1593_His1595del
XM_011522640.2:c.4774_4782del	XP_011520942.1:p.Val1592_His1594del
XM_017023615.1:c.4849_4857del	XP_016879104.1:p.Val1617_His1619del
XM_017023616.1:c.4720_4728del	XP_016879105.1:p.Val1574_His1576del
XM_017023617.1:c.4816_4824del	XP_016879106.1:p.Val1606_His1608del
XM_017023618.1:c.3562_3570del	XP_016879107.1:p.Val1188_His1190del
XM_024450413.1:c.4651_4659del	XP_024306181.1:p.Val1551_His1553del
NM_000548.5:c.4852_4860del MANE Select	NP_000539.2:p.Val1618_His1620del
NM_001370404.1:c.4720_4728del	NP_001357333.1:p.Val1574_His1576del
NM_001370405.1:c.4723_4731del	NP_001357334.1:p.Val1575_His1577del
NM_001077183.3:c.4651_4659del	NP_001070651.1:p.Val1551_His1553del
NM_001114382.3:c.4783_4791del	NP_001107854.1:p.Val1595_His1597del
NM_001318827.2:c.4543_4551del	NP_001305756.1:p.Val1515_His1517del
NM_001318829.2:c.4507_4515del	NP_001305758.1:p.Val1503_His1505del
NM_001318831.2:c.4120_4128del	NP_001305760.1:p.Val1374_His1376del
NM_001318832.2:c.4684_4692del	NP_001305761.1:p.Val1562_His1564del
NM_001363528.2:c.4654_4662del	NP_001350457.1:p.Val1552_His1554del
NM_021055.3:c.4723_4731del	NP_066399.2:p.Val1575_His1577del