Canonical Allele Identifier: CA2202031818

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088257_2088272delinsAACCCCACCGATATCT , CM000678.2:g.2088257_2088272delinsAACCCCACCGATATCT	GRCh38
NC_000016.9:g.2138258_2138273delinsAACCCCACCGATATCT , CM000678.1:g.2138258_2138273delinsAACCCCACCGATATCT	GRCh37
NC_000016.8:g.2078259_2078274delinsAACCCCACCGATATCT	NCBI36
NG_005895.1:g.43952_43967delinsAACCCCACCGATATCT , LRG_487:g.43952_43967delinsAACCCCACCGATATCT
NG_008617.1:g.54949_54964delinsAGATATCGGTGGGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3540_*3555delinsAACCCCACCGATATCT	ENSP00000455997.2:n.*3540_*3555delinsAACCCCACCGATATCT
ENST00000642206.2:c.5038_5053delinsAACCCCACCGATATCT	ENSP00000495146.2:p.Asn1680=
ENST00000642365.2:c.5188_5203delinsAACCCCACCGATATCT	ENSP00000495459.2:p.Asn1730=
ENST00000644417.2:c.*5704_*5719delinsAACCCCACCGATATCT	ENSP00000493912.2:n.*5704_*5719delinsAACCCCACCGATATCT
ENST00000646464.2:c.*7940_*7955delinsAACCCCACCGATATCT	ENSP00000496610.2:n.*7940_*7955delinsAACCCCACCGATATCT
ENST00000219476.9:c.5191_5206delinsAACCCCACCGATATCT MANE Select	ENSP00000219476.3:p.Asn1731=
ENST00000350773.9:c.5122_5137delinsAACCCCACCGATATCT	ENSP00000344383.4:p.Asn1708=
ENST00000401874.7:c.4990_5005delinsAACCCCACCGATATCT	ENSP00000384468.2:p.Asn1664=
ENST00000568454.6:c.5023_5038delinsAACCCCACCGATATCT	ENSP00000454487.1:p.Asn1675=
ENST00000569110.2:c.1414_1429delinsAACCCCACCGATATCT
ENST00000569930.2:n.3073_3088delinsAACCCCACCGATATCT
ENST00000642365.1:c.3845_3860delinsAACCCCACCGATATCT
ENST00000642561.1:c.5050_5065delinsAACCCCACCGATATCT	ENSP00000495099.1:p.Asn1684=
ENST00000642791.1:n.788_803delinsAACCCCACCGATATCT
ENST00000642797.1:c.4993_5008delinsAACCCCACCGATATCT	ENSP00000493846.1:p.Asn1665=
ENST00000642936.1:c.5059_5074delinsAACCCCACCGATATCT	ENSP00000494514.1:p.Asn1687=
ENST00000643088.1:c.4984_4999delinsAACCCCACCGATATCT	ENSP00000494747.1:p.Asn1662=
ENST00000643426.1:n.2839_2854delinsAACCCCACCGATATCT
ENST00000643946.1:c.5116_5131delinsAACCCCACCGATATCT	ENSP00000495927.1:p.Asn1706=
ENST00000644043.1:c.5062_5077delinsAACCCCACCGATATCT	ENSP00000496262.1:p.Asn1688=
ENST00000644329.1:c.5077_5092delinsAACCCCACCGATATCT	ENSP00000496611.1:p.Asn1693=
ENST00000644335.1:c.4987_5002delinsAACCCCACCGATATCT	ENSP00000496317.1:p.Asn1663=
ENST00000644399.1:c.5112_5127delinsAACCCCACCGATATCT
ENST00000645024.1:n.3275_3290delinsAACCCCACCGATATCT
ENST00000646388.1:c.5185_5200delinsAACCCCACCGATATCT	ENSP00000495921.1:p.Asn1729=
ENST00000646634.1:n.4006_4021delinsAACCCCACCGATATCT
ENST00000646674.1:n.2443_2458delinsAACCCCACCGATATCT
ENST00000647042.1:n.2414_2429delinsAACCCCACCGATATCT
ENST00000647180.1:n.2304_2319delinsAACCCCACCGATATCT
ENST00000219476.7:c.5191_5206delinsAACCCCACCGATATCT	ENSP00000219476.3:p.Asn1731=
ENST00000350773.8:c.5122_5137delinsAACCCCACCGATATCT	ENSP00000344383.4:p.Asn1708=
ENST00000382538.10:c.4846_4861delinsAACCCCACCGATATCT	ENSP00000371978.6:p.Asn1616=
ENST00000401874.6:c.4990_5005delinsAACCCCACCGATATCT	ENSP00000384468.2:p.Asn1664=
ENST00000439117.6:c.*4358_*4373delinsAACCCCACCGATATCT	ENSP00000406980.2:n.*4358_*4373delinsAACCCCACCGATATCT
ENST00000439673.6:c.4882_4897delinsAACCCCACCGATATCT	ENSP00000399232.2:p.Asn1628=
ENST00000497886.5:n.2914_2929delinsAACCCCACCGATATCT
ENST00000568454.5:c.5023_5038delinsAACCCCACCGATATCT	ENSP00000454487.1:p.Asn1675=
ENST00000569110.1:c.1373_1388delinsAACCCCACCGATATCT
ENST00000569930.1:n.2306_2321delinsAACCCCACCGATATCT
NM_000548.3:c.5191_5206delinsAACCCCACCGATATCT , LRG_487t1:c.5191_5206delinsAACCCCACCGATATCT	NP_000539.2:p.Asn1731=
NM_001077183.1:c.4990_5005delinsAACCCCACCGATATCT	NP_001070651.1:p.Asn1664=
NM_001114382.1:c.5122_5137delinsAACCCCACCGATATCT	NP_001107854.1:p.Asn1708=
XM_005255529.3:c.5062_5077delinsAACCCCACCGATATCT	XP_005255586.2:p.Asn1688=
XM_005255531.3:c.4993_5008delinsAACCCCACCGATATCT	XP_005255588.2:p.Asn1665=
XM_011522636.1:c.5245_5260delinsAACCCCACCGATATCT	XP_011520938.1:p.Asn1749=
XM_011522637.1:c.5242_5257delinsAACCCCACCGATATCT	XP_011520939.1:p.Asn1748=
XM_011522638.1:c.5134_5149delinsAACCCCACCGATATCT	XP_011520940.1:p.Asn1712=
XM_011522639.1:c.5116_5131delinsAACCCCACCGATATCT	XP_011520941.1:p.Asn1706=
XM_011522640.1:c.5113_5128delinsAACCCCACCGATATCT	XP_011520942.1:p.Asn1705=
XM_011522641.1:c.4882_4897delinsAACCCCACCGATATCT	XP_011520943.1:p.Asn1628=
NM_000548.4:c.5191_5206delinsAACCCCACCGATATCT	NP_000539.2:p.Asn1731=
NM_001077183.2:c.4990_5005delinsAACCCCACCGATATCT	NP_001070651.1:p.Asn1664=
NM_001114382.2:c.5122_5137delinsAACCCCACCGATATCT	NP_001107854.1:p.Asn1708=
NM_001318827.1:c.4882_4897delinsAACCCCACCGATATCT	NP_001305756.1:p.Asn1628=
NM_001318829.1:c.4846_4861delinsAACCCCACCGATATCT	NP_001305758.1:p.Asn1616=
NM_001318831.1:c.4459_4474delinsAACCCCACCGATATCT	NP_001305760.1:p.Asn1487=
NM_001318832.1:c.5023_5038delinsAACCCCACCGATATCT	NP_001305761.1:p.Asn1675=
NM_001363528.1:c.4993_5008delinsAACCCCACCGATATCT	NP_001350457.1:p.Asn1665=
NM_021055.2:c.5062_5077delinsAACCCCACCGATATCT	NP_066399.2:p.Asn1688=
XM_005255531.4:c.4993_5008delinsAACCCCACCGATATCT	XP_005255588.2:p.Asn1665=
XM_011522636.2:c.5245_5260delinsAACCCCACCGATATCT	XP_011520938.1:p.Asn1749=
XM_011522637.2:c.5242_5257delinsAACCCCACCGATATCT	XP_011520939.1:p.Asn1748=
XM_011522638.2:c.5407_5422delinsAACCCCACCGATATCT	XP_011520940.2:p.Asn1803=
XM_011522639.2:c.5116_5131delinsAACCCCACCGATATCT	XP_011520941.1:p.Asn1706=
XM_011522640.2:c.5113_5128delinsAACCCCACCGATATCT	XP_011520942.1:p.Asn1705=
XM_017023615.1:c.5188_5203delinsAACCCCACCGATATCT	XP_016879104.1:p.Asn1730=
XM_017023616.1:c.5059_5074delinsAACCCCACCGATATCT	XP_016879105.1:p.Asn1687=
XM_017023617.1:c.5155_5170delinsAACCCCACCGATATCT	XP_016879106.1:p.Asn1719=
XM_017023618.1:c.3901_3916delinsAACCCCACCGATATCT	XP_016879107.1:p.Asn1301=
XM_024450413.1:c.5077_5092delinsAACCCCACCGATATCT	XP_024306181.1:p.Asn1693=
NM_000548.5:c.5191_5206delinsAACCCCACCGATATCT MANE Select	NP_000539.2:p.Asn1731=
NM_001370404.1:c.5059_5074delinsAACCCCACCGATATCT	NP_001357333.1:p.Asn1687=
NM_001370405.1:c.5050_5065delinsAACCCCACCGATATCT	NP_001357334.1:p.Asn1684=
NM_001077183.3:c.4990_5005delinsAACCCCACCGATATCT	NP_001070651.1:p.Asn1664=
NM_001114382.3:c.5122_5137delinsAACCCCACCGATATCT	NP_001107854.1:p.Asn1708=
NM_001318827.2:c.4882_4897delinsAACCCCACCGATATCT	NP_001305756.1:p.Asn1628=
NM_001318829.2:c.4846_4861delinsAACCCCACCGATATCT	NP_001305758.1:p.Asn1616=
NM_001318831.2:c.4459_4474delinsAACCCCACCGATATCT	NP_001305760.1:p.Asn1487=
NM_001318832.2:c.5023_5038delinsAACCCCACCGATATCT	NP_001305761.1:p.Asn1675=
NM_001363528.2:c.4993_5008delinsAACCCCACCGATATCT	NP_001350457.1:p.Asn1665=
NM_021055.3:c.5062_5077delinsAACCCCACCGATATCT	NP_066399.2:p.Asn1688=