Canonical Allele Identifier: CA2580091167

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2119302
• ClinVar RCV Id: RCV003054591

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088306_2088317del , CM000678.2:g.2088306_2088317del	GRCh38
NC_000016.9:g.2138307_2138318del , CM000678.1:g.2138307_2138318del	GRCh37
NC_000016.8:g.2078308_2078319del	NCBI36
NG_005895.1:g.44001_44012del , LRG_487:g.44001_44012del
NG_008617.1:g.54904_54915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3589_*3600del	ENSP00000455997.2:n.*3589_*3600del
ENST00000642206.2:c.5087_5098del	ENSP00000495146.2:p.Ile1696_Arg1700delinsSer
ENST00000642365.2:c.5237_5248del	ENSP00000495459.2:p.Ile1746_Arg1750delinsSer
ENST00000644417.2:c.*5753_*5764del	ENSP00000493912.2:n.*5753_*5764del
ENST00000646464.2:c.*7989_*8000del	ENSP00000496610.2:n.*7989_*8000del
ENST00000219476.9:c.5240_5251del MANE Select	ENSP00000219476.3:p.Ile1747_Arg1751delinsSer
ENST00000350773.9:c.5171_5182del	ENSP00000344383.4:p.Ile1724_Arg1728delinsSer
ENST00000401874.7:c.5039_5050del	ENSP00000384468.2:p.Ile1680_Arg1684delinsSer
ENST00000568454.6:c.5072_5083del	ENSP00000454487.1:p.Ile1691_Arg1695delinsSer
ENST00000569110.2:c.1463_1474del
ENST00000569930.2:n.3122_3133del
ENST00000642365.1:c.3894_3905del
ENST00000642561.1:c.5099_5110del	ENSP00000495099.1:p.Ile1700_Arg1704delinsSer
ENST00000642791.1:n.837_848del
ENST00000642797.1:c.5042_5053del	ENSP00000493846.1:p.Ile1681_Arg1685delinsSer
ENST00000642936.1:c.5108_5119del	ENSP00000494514.1:p.Ile1703_Arg1707delinsSer
ENST00000643088.1:c.5033_5044del	ENSP00000494747.1:p.Ile1678_Arg1682delinsSer
ENST00000643426.1:n.2888_2899del
ENST00000643946.1:c.5165_5176del	ENSP00000495927.1:p.Ile1722_Arg1726delinsSer
ENST00000644043.1:c.5111_5122del	ENSP00000496262.1:p.Ile1704_Arg1708delinsSer
ENST00000644329.1:c.5126_5137del	ENSP00000496611.1:p.Ile1709_Arg1713delinsSer
ENST00000644335.1:c.5036_5047del	ENSP00000496317.1:p.Ile1679_Arg1683delinsSer
ENST00000644399.1:c.5161_5172del
ENST00000645024.1:n.3324_3335del
ENST00000646388.1:c.5234_5245del	ENSP00000495921.1:p.Ile1745_Arg1749delinsSer
ENST00000646634.1:n.4055_4066del
ENST00000646674.1:n.2492_2503del
ENST00000647042.1:n.2463_2474del
ENST00000647180.1:n.2353_2364del
ENST00000219476.7:c.5240_5251del	ENSP00000219476.3:p.Ile1747_Arg1751delinsSer
ENST00000350773.8:c.5171_5182del	ENSP00000344383.4:p.Ile1724_Arg1728delinsSer
ENST00000382538.10:c.4895_4906del	ENSP00000371978.6:p.Ile1632_Arg1636delinsSer
ENST00000401874.6:c.5039_5050del	ENSP00000384468.2:p.Ile1680_Arg1684delinsSer
ENST00000439117.6:c.*4407_*4418del	ENSP00000406980.2:n.*4407_*4418del
ENST00000439673.6:c.4931_4942del	ENSP00000399232.2:p.Ile1644_Arg1648delinsSer
ENST00000497886.5:n.2963_2974del
ENST00000568454.5:c.5072_5083del	ENSP00000454487.1:p.Ile1691_Arg1695delinsSer
ENST00000569110.1:c.1422_1433del
ENST00000569930.1:n.2355_2366del
NM_000548.3:c.5240_5251del , LRG_487t1:c.5240_5251del	NP_000539.2:p.Ile1747_Arg1751delinsSer
NM_001077183.1:c.5039_5050del	NP_001070651.1:p.Ile1680_Arg1684delinsSer
NM_001114382.1:c.5171_5182del	NP_001107854.1:p.Ile1724_Arg1728delinsSer
XM_005255529.3:c.5111_5122del	XP_005255586.2:p.Ile1704_Arg1708delinsSer
XM_005255531.3:c.5042_5053del	XP_005255588.2:p.Ile1681_Arg1685delinsSer
XM_011522636.1:c.5294_5305del	XP_011520938.1:p.Ile1765_Arg1769delinsSer
XM_011522637.1:c.5291_5302del	XP_011520939.1:p.Ile1764_Arg1768delinsSer
XM_011522638.1:c.5183_5194del	XP_011520940.1:p.Ile1728_Arg1732delinsSer
XM_011522639.1:c.5165_5176del	XP_011520941.1:p.Ile1722_Arg1726delinsSer
XM_011522640.1:c.5162_5173del	XP_011520942.1:p.Ile1721_Arg1725delinsSer
XM_011522641.1:c.4931_4942del	XP_011520943.1:p.Ile1644_Arg1648delinsSer
NM_000548.4:c.5240_5251del	NP_000539.2:p.Ile1747_Arg1751delinsSer
NM_001077183.2:c.5039_5050del	NP_001070651.1:p.Ile1680_Arg1684delinsSer
NM_001114382.2:c.5171_5182del	NP_001107854.1:p.Ile1724_Arg1728delinsSer
NM_001318827.1:c.4931_4942del	NP_001305756.1:p.Ile1644_Arg1648delinsSer
NM_001318829.1:c.4895_4906del	NP_001305758.1:p.Ile1632_Arg1636delinsSer
NM_001318831.1:c.4508_4519del	NP_001305760.1:p.Ile1503_Arg1507delinsSer
NM_001318832.1:c.5072_5083del	NP_001305761.1:p.Ile1691_Arg1695delinsSer
NM_001363528.1:c.5042_5053del	NP_001350457.1:p.Ile1681_Arg1685delinsSer
NM_021055.2:c.5111_5122del	NP_066399.2:p.Ile1704_Arg1708delinsSer
XM_005255531.4:c.5042_5053del	XP_005255588.2:p.Ile1681_Arg1685delinsSer
XM_011522636.2:c.5294_5305del	XP_011520938.1:p.Ile1765_Arg1769delinsSer
XM_011522637.2:c.5291_5302del	XP_011520939.1:p.Ile1764_Arg1768delinsSer
XM_011522638.2:c.5456_5467del	XP_011520940.2:p.Ile1819_Arg1823delinsSer
XM_011522639.2:c.5165_5176del	XP_011520941.1:p.Ile1722_Arg1726delinsSer
XM_011522640.2:c.5162_5173del	XP_011520942.1:p.Ile1721_Arg1725delinsSer
XM_017023615.1:c.5237_5248del	XP_016879104.1:p.Ile1746_Arg1750delinsSer
XM_017023616.1:c.5108_5119del	XP_016879105.1:p.Ile1703_Arg1707delinsSer
XM_017023617.1:c.5204_5215del	XP_016879106.1:p.Ile1735_Arg1739delinsSer
XM_017023618.1:c.3950_3961del	XP_016879107.1:p.Ile1317_Arg1321delinsSer
XM_024450413.1:c.5126_5137del	XP_024306181.1:p.Ile1709_Arg1713delinsSer
NM_000548.5:c.5240_5251del MANE Select	NP_000539.2:p.Ile1747_Arg1751delinsSer
NM_001370404.1:c.5108_5119del	NP_001357333.1:p.Ile1703_Arg1707delinsSer
NM_001370405.1:c.5099_5110del	NP_001357334.1:p.Ile1700_Arg1704delinsSer
NM_001077183.3:c.5039_5050del	NP_001070651.1:p.Ile1680_Arg1684delinsSer
NM_001114382.3:c.5171_5182del	NP_001107854.1:p.Ile1724_Arg1728delinsSer
NM_001318827.2:c.4931_4942del	NP_001305756.1:p.Ile1644_Arg1648delinsSer
NM_001318829.2:c.4895_4906del	NP_001305758.1:p.Ile1632_Arg1636delinsSer
NM_001318831.2:c.4508_4519del	NP_001305760.1:p.Ile1503_Arg1507delinsSer
NM_001318832.2:c.5072_5083del	NP_001305761.1:p.Ile1691_Arg1695delinsSer
NM_001363528.2:c.5042_5053del	NP_001350457.1:p.Ile1681_Arg1685delinsSer
NM_021055.3:c.5111_5122del	NP_066399.2:p.Ile1704_Arg1708delinsSer