Canonical Allele Identifier: CA022197

Gene: TSC2

Linked Data

• ClinVar Variation Id: 12402
• ClinVar RCV Id: RCV000013211 ; RCV000043162 ; RCV000055053 ; RCV000483802 ; RCV000491359
• dbSNP Id: rs137854218
• gnomAD v4: 16-2088292-CCGGCTCCGCCACATCAAG-C
• COSMIC: COSM1236782
• MyVariant Identifiers: chr16:g.2138305_2138322del (hg19) ; chr16:g.2138294_2138311del (hg19) ; chr16:g.2088304_2088321del (hg38) ; chr16:g.2088293_2088310del (hg38)
• PubMed: PMID:5279523 ; PMID:9829910 ; PMID:10205261 ; PMID:11112665 ; PMID:12752578 ; PMID:15798777 ; PMID:17304050 ; PMID:21309039 ; PMID:22867869

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088304_2088321del , CM000678.2:g.2088304_2088321del	GRCh38
NC_000016.9:g.2138305_2138322del , CM000678.1:g.2138305_2138322del	GRCh37
NC_000016.8:g.2078306_2078323del	NCBI36
NG_005895.1:g.43999_44016del , LRG_487:g.43999_44016del
NG_008617.1:g.54911_54928del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3587_*3604del	ENSP00000455997.2:n.*3587_*3604del
ENST00000642206.2:c.5085_5102del	ENSP00000495146.2:p.His1695_Arg1700del
ENST00000642365.2:c.5235_5252del	ENSP00000495459.2:p.His1745_Arg1750del
ENST00000644417.2:c.*5751_*5768del	ENSP00000493912.2:n.*5751_*5768del
ENST00000646464.2:c.*7987_*8004del	ENSP00000496610.2:n.*7987_*8004del
ENST00000219476.9:c.5238_5255del MANE Select	ENSP00000219476.3:p.His1746_Arg1751del
ENST00000350773.9:c.5169_5186del	ENSP00000344383.4:p.His1723_Arg1728del
ENST00000401874.7:c.5037_5054del	ENSP00000384468.2:p.His1679_Arg1684del
ENST00000568454.6:c.5070_5087del	ENSP00000454487.1:p.His1690_Arg1695del
ENST00000569110.2:c.1461_1478del
ENST00000569930.2:n.3120_3137del
ENST00000642365.1:c.3892_3909del
ENST00000642561.1:c.5097_5114del	ENSP00000495099.1:p.His1699_Arg1704del
ENST00000642791.1:n.835_852del
ENST00000642797.1:c.5040_5057del	ENSP00000493846.1:p.His1680_Arg1685del
ENST00000642936.1:c.5106_5123del	ENSP00000494514.1:p.His1702_Arg1707del
ENST00000643088.1:c.5031_5048del	ENSP00000494747.1:p.His1677_Arg1682del
ENST00000643426.1:n.2886_2903del
ENST00000643946.1:c.5163_5180del	ENSP00000495927.1:p.His1721_Arg1726del
ENST00000644043.1:c.5109_5126del	ENSP00000496262.1:p.His1703_Arg1708del
ENST00000644329.1:c.5124_5141del	ENSP00000496611.1:p.His1708_Arg1713del
ENST00000644335.1:c.5034_5051del	ENSP00000496317.1:p.His1678_Arg1683del
ENST00000644399.1:c.5159_5176del
ENST00000645024.1:n.3322_3339del
ENST00000646388.1:c.5232_5249del	ENSP00000495921.1:p.His1744_Arg1749del
ENST00000646634.1:n.4053_4070del
ENST00000646674.1:n.2490_2507del
ENST00000647042.1:n.2461_2478del
ENST00000647180.1:n.2351_2368del
ENST00000219476.7:c.5238_5255del	ENSP00000219476.3:p.His1746_Arg1751del
ENST00000350773.8:c.5169_5186del	ENSP00000344383.4:p.His1723_Arg1728del
ENST00000382538.10:c.4893_4910del	ENSP00000371978.6:p.His1631_Arg1636del
ENST00000401874.6:c.5037_5054del	ENSP00000384468.2:p.His1679_Arg1684del
ENST00000439117.6:c.*4405_*4422del	ENSP00000406980.2:n.*4405_*4422del
ENST00000439673.6:c.4929_4946del	ENSP00000399232.2:p.His1643_Arg1648del
ENST00000497886.5:n.2961_2978del
ENST00000568454.5:c.5070_5087del	ENSP00000454487.1:p.His1690_Arg1695del
ENST00000569110.1:c.1420_1437del
ENST00000569930.1:n.2353_2370del
NM_000548.3:c.5238_5255del , LRG_487t1:c.5238_5255del	NP_000539.2:p.His1746_Arg1751del
NM_001077183.1:c.5037_5054del	NP_001070651.1:p.His1679_Arg1684del
NM_001114382.1:c.5169_5186del	NP_001107854.1:p.His1723_Arg1728del
XM_005255529.3:c.5109_5126del	XP_005255586.2:p.His1703_Arg1708del
XM_005255531.3:c.5040_5057del	XP_005255588.2:p.His1680_Arg1685del
XM_011522636.1:c.5292_5309del	XP_011520938.1:p.His1764_Arg1769del
XM_011522637.1:c.5289_5306del	XP_011520939.1:p.His1763_Arg1768del
XM_011522638.1:c.5181_5198del	XP_011520940.1:p.His1727_Arg1732del
XM_011522639.1:c.5163_5180del	XP_011520941.1:p.His1721_Arg1726del
XM_011522640.1:c.5160_5177del	XP_011520942.1:p.His1720_Arg1725del
XM_011522641.1:c.4929_4946del	XP_011520943.1:p.His1643_Arg1648del
NM_000548.4:c.5238_5255del	NP_000539.2:p.His1746_Arg1751del
NM_001077183.2:c.5037_5054del	NP_001070651.1:p.His1679_Arg1684del
NM_001114382.2:c.5169_5186del	NP_001107854.1:p.His1723_Arg1728del
NM_001318827.1:c.4929_4946del	NP_001305756.1:p.His1643_Arg1648del
NM_001318829.1:c.4893_4910del	NP_001305758.1:p.His1631_Arg1636del
NM_001318831.1:c.4506_4523del	NP_001305760.1:p.His1502_Arg1507del
NM_001318832.1:c.5070_5087del	NP_001305761.1:p.His1690_Arg1695del
NM_001363528.1:c.5040_5057del	NP_001350457.1:p.His1680_Arg1685del
NM_021055.2:c.5109_5126del	NP_066399.2:p.His1703_Arg1708del
XM_005255531.4:c.5040_5057del	XP_005255588.2:p.His1680_Arg1685del
XM_011522636.2:c.5292_5309del	XP_011520938.1:p.His1764_Arg1769del
XM_011522637.2:c.5289_5306del	XP_011520939.1:p.His1763_Arg1768del
XM_011522638.2:c.5454_5471del	XP_011520940.2:p.His1818_Arg1823del
XM_011522639.2:c.5163_5180del	XP_011520941.1:p.His1721_Arg1726del
XM_011522640.2:c.5160_5177del	XP_011520942.1:p.His1720_Arg1725del
XM_017023615.1:c.5235_5252del	XP_016879104.1:p.His1745_Arg1750del
XM_017023616.1:c.5106_5123del	XP_016879105.1:p.His1702_Arg1707del
XM_017023617.1:c.5202_5219del	XP_016879106.1:p.His1734_Arg1739del
XM_017023618.1:c.3948_3965del	XP_016879107.1:p.His1316_Arg1321del
XM_024450413.1:c.5124_5141del	XP_024306181.1:p.His1708_Arg1713del
NM_000548.5:c.5238_5255del MANE Select	NP_000539.2:p.His1746_Arg1751del
NM_001370404.1:c.5106_5123del	NP_001357333.1:p.His1702_Arg1707del
NM_001370405.1:c.5097_5114del	NP_001357334.1:p.His1699_Arg1704del
NM_001077183.3:c.5037_5054del	NP_001070651.1:p.His1679_Arg1684del
NM_001114382.3:c.5169_5186del	NP_001107854.1:p.His1723_Arg1728del
NM_001318827.2:c.4929_4946del	NP_001305756.1:p.His1643_Arg1648del
NM_001318829.2:c.4893_4910del	NP_001305758.1:p.His1631_Arg1636del
NM_001318831.2:c.4506_4523del	NP_001305760.1:p.His1502_Arg1507del
NM_001318832.2:c.5070_5087del	NP_001305761.1:p.His1690_Arg1695del
NM_001363528.2:c.5040_5057del	NP_001350457.1:p.His1680_Arg1685del
NM_021055.3:c.5109_5126del	NP_066399.2:p.His1703_Arg1708del