Canonical Allele Identifier: CA620705069

Gene: TSC2

Linked Data

• ClinVar Variation Id: 962769
• ClinVar RCV Id: RCV002255636
• dbSNP Id: rs137854218
• gnomAD v2: 16-2138293-C-CCGGCTCCGCCACATCAAG
• gnomAD v4: 16-2088292-C-CCGGCTCCGCCACATCAAG
• MyVariant Identifiers: chr16:g.2138293_2138294insCGGCTCCGCCACATCAAG (hg19) ; chr16:g.2088292_2088293insCGGCTCCGCCACATCAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088304_2088321dup , CM000678.2:g.2088304_2088321dup	GRCh38
NC_000016.9:g.2138305_2138322dup , CM000678.1:g.2138305_2138322dup	GRCh37
NC_000016.8:g.2078306_2078323dup	NCBI36
NG_005895.1:g.43999_44016dup , LRG_487:g.43999_44016dup
NG_008617.1:g.54911_54928dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3587_*3604dup	ENSP00000455997.2:n.*3587_*3604dup
ENST00000642206.2:c.5085_5102dup	ENSP00000495146.2:p.Arg1700_Gln1701insHis...
ENST00000642365.2:c.5235_5252dup	ENSP00000495459.2:p.Arg1750_Gln1751insHis...
ENST00000644417.2:c.*5751_*5768dup	ENSP00000493912.2:n.*5751_*5768dup
ENST00000646464.2:c.*7987_*8004dup	ENSP00000496610.2:n.*7987_*8004dup
ENST00000219476.9:c.5238_5255dup MANE Select	ENSP00000219476.3:p.Arg1751_Gln1752insHis...
ENST00000350773.9:c.5169_5186dup	ENSP00000344383.4:p.Arg1728_Gln1729insHis...
ENST00000401874.7:c.5037_5054dup	ENSP00000384468.2:p.Arg1684_Gln1685insHis...
ENST00000568454.6:c.5070_5087dup	ENSP00000454487.1:p.Arg1695_Gln1696insHis...
ENST00000569110.2:c.1461_1478dup
ENST00000569930.2:n.3120_3137dup
ENST00000642365.1:c.3892_3909dup
ENST00000642561.1:c.5097_5114dup	ENSP00000495099.1:p.Arg1704_Gln1705insHis...
ENST00000642791.1:n.835_852dup
ENST00000642797.1:c.5040_5057dup	ENSP00000493846.1:p.Arg1685_Gln1686insHis...
ENST00000642936.1:c.5106_5123dup	ENSP00000494514.1:p.Arg1707_Gln1708insHis...
ENST00000643088.1:c.5031_5048dup	ENSP00000494747.1:p.Arg1682_Gln1683insHis...
ENST00000643426.1:n.2886_2903dup
ENST00000643946.1:c.5163_5180dup	ENSP00000495927.1:p.Arg1726_Gln1727insHis...
ENST00000644043.1:c.5109_5126dup	ENSP00000496262.1:p.Arg1708_Gln1709insHis...
ENST00000644329.1:c.5124_5141dup	ENSP00000496611.1:p.Arg1713_Gln1714insHis...
ENST00000644335.1:c.5034_5051dup	ENSP00000496317.1:p.Arg1683_Gln1684insHis...
ENST00000644399.1:c.5159_5176dup
ENST00000645024.1:n.3322_3339dup
ENST00000646388.1:c.5232_5249dup	ENSP00000495921.1:p.Arg1749_Gln1750insHis...
ENST00000646634.1:n.4053_4070dup
ENST00000646674.1:n.2490_2507dup
ENST00000647042.1:n.2461_2478dup
ENST00000647180.1:n.2351_2368dup
ENST00000219476.7:c.5238_5255dup	ENSP00000219476.3:p.Arg1751_Gln1752insHis...
ENST00000350773.8:c.5169_5186dup	ENSP00000344383.4:p.Arg1728_Gln1729insHis...
ENST00000382538.10:c.4893_4910dup	ENSP00000371978.6:p.Arg1636_Gln1637insHis...
ENST00000401874.6:c.5037_5054dup	ENSP00000384468.2:p.Arg1684_Gln1685insHis...
ENST00000439117.6:c.*4405_*4422dup	ENSP00000406980.2:n.*4405_*4422dup
ENST00000439673.6:c.4929_4946dup	ENSP00000399232.2:p.Arg1648_Gln1649insHis...
ENST00000497886.5:n.2961_2978dup
ENST00000568454.5:c.5070_5087dup	ENSP00000454487.1:p.Arg1695_Gln1696insHis...
ENST00000569110.1:c.1420_1437dup
ENST00000569930.1:n.2353_2370dup
NM_000548.3:c.5238_5255dup , LRG_487t1:c.5238_5255dup	NP_000539.2:p.Arg1751_Gln1752insHisIleLys...
NM_001077183.1:c.5037_5054dup	NP_001070651.1:p.Arg1684_Gln1685insHisIle...
NM_001114382.1:c.5169_5186dup	NP_001107854.1:p.Arg1728_Gln1729insHisIle...
XM_005255529.3:c.5109_5126dup	XP_005255586.2:p.Arg1708_Gln1709insHisIle...
XM_005255531.3:c.5040_5057dup	XP_005255588.2:p.Arg1685_Gln1686insHisIle...
XM_011522636.1:c.5292_5309dup	XP_011520938.1:p.Arg1769_Gln1770insHisIle...
XM_011522637.1:c.5289_5306dup	XP_011520939.1:p.Arg1768_Gln1769insHisIle...
XM_011522638.1:c.5181_5198dup	XP_011520940.1:p.Arg1732_Gln1733insHisIle...
XM_011522639.1:c.5163_5180dup	XP_011520941.1:p.Arg1726_Gln1727insHisIle...
XM_011522640.1:c.5160_5177dup	XP_011520942.1:p.Arg1725_Gln1726insHisIle...
XM_011522641.1:c.4929_4946dup	XP_011520943.1:p.Arg1648_Gln1649insHisIle...
NM_000548.4:c.5238_5255dup	NP_000539.2:p.Arg1751_Gln1752insHisIleLys...
NM_001077183.2:c.5037_5054dup	NP_001070651.1:p.Arg1684_Gln1685insHisIle...
NM_001114382.2:c.5169_5186dup	NP_001107854.1:p.Arg1728_Gln1729insHisIle...
NM_001318827.1:c.4929_4946dup	NP_001305756.1:p.Arg1648_Gln1649insHisIle...
NM_001318829.1:c.4893_4910dup	NP_001305758.1:p.Arg1636_Gln1637insHisIle...
NM_001318831.1:c.4506_4523dup	NP_001305760.1:p.Arg1507_Gln1508insHisIle...
NM_001318832.1:c.5070_5087dup	NP_001305761.1:p.Arg1695_Gln1696insHisIle...
NM_001363528.1:c.5040_5057dup	NP_001350457.1:p.Arg1685_Gln1686insHisIle...
NM_021055.2:c.5109_5126dup	NP_066399.2:p.Arg1708_Gln1709insHisIleLys...
XM_005255531.4:c.5040_5057dup	XP_005255588.2:p.Arg1685_Gln1686insHisIle...
XM_011522636.2:c.5292_5309dup	XP_011520938.1:p.Arg1769_Gln1770insHisIle...
XM_011522637.2:c.5289_5306dup	XP_011520939.1:p.Arg1768_Gln1769insHisIle...
XM_011522638.2:c.5454_5471dup	XP_011520940.2:p.Arg1823_Gln1824insHisIle...
XM_011522639.2:c.5163_5180dup	XP_011520941.1:p.Arg1726_Gln1727insHisIle...
XM_011522640.2:c.5160_5177dup	XP_011520942.1:p.Arg1725_Gln1726insHisIle...
XM_017023615.1:c.5235_5252dup	XP_016879104.1:p.Arg1750_Gln1751insHisIle...
XM_017023616.1:c.5106_5123dup	XP_016879105.1:p.Arg1707_Gln1708insHisIle...
XM_017023617.1:c.5202_5219dup	XP_016879106.1:p.Arg1739_Gln1740insHisIle...
XM_017023618.1:c.3948_3965dup	XP_016879107.1:p.Arg1321_Gln1322insHisIle...
XM_024450413.1:c.5124_5141dup	XP_024306181.1:p.Arg1713_Gln1714insHisIle...
NM_000548.5:c.5238_5255dup MANE Select	NP_000539.2:p.Arg1751_Gln1752insHisIleLys...
NM_001370404.1:c.5106_5123dup	NP_001357333.1:p.Arg1707_Gln1708insHisIle...
NM_001370405.1:c.5097_5114dup	NP_001357334.1:p.Arg1704_Gln1705insHisIle...
NM_001077183.3:c.5037_5054dup	NP_001070651.1:p.Arg1684_Gln1685insHisIle...
NM_001114382.3:c.5169_5186dup	NP_001107854.1:p.Arg1728_Gln1729insHisIle...
NM_001318827.2:c.4929_4946dup	NP_001305756.1:p.Arg1648_Gln1649insHisIle...
NM_001318829.2:c.4893_4910dup	NP_001305758.1:p.Arg1636_Gln1637insHisIle...
NM_001318831.2:c.4506_4523dup	NP_001305760.1:p.Arg1507_Gln1508insHisIle...
NM_001318832.2:c.5070_5087dup	NP_001305761.1:p.Arg1695_Gln1696insHisIle...
NM_001363528.2:c.5040_5057dup	NP_001350457.1:p.Arg1685_Gln1686insHisIle...
NM_021055.3:c.5109_5126dup	NP_066399.2:p.Arg1708_Gln1709insHisIleLys...