Canonical Allele Identifier: CA2631118465

Gene: TSC2

Linked Data

• dbSNP Id: rs2151628137
• gnomAD v4: 16-2088237-AGGTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088238_2088242del , CM000678.2:g.2088238_2088242del	GRCh38
NC_000016.9:g.2138239_2138243del , CM000678.1:g.2138239_2138243del	GRCh37
NC_000016.8:g.2078240_2078244del	NCBI36
NG_005895.1:g.43933_43937del , LRG_487:g.43933_43937del
NG_008617.1:g.54979_54983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3521_*3525del	ENSP00000455997.2:n.*3521_*3525del
ENST00000642206.2:c.5019_5023del	ENSP00000495146.2:p.Val1674SerfsTer2
ENST00000642365.2:c.5169_5173del	ENSP00000495459.2:p.Val1724SerfsTer2
ENST00000644417.2:c.*5685_*5689del	ENSP00000493912.2:n.*5685_*5689del
ENST00000646464.2:c.*7921_*7925del	ENSP00000496610.2:n.*7921_*7925del
ENST00000219476.9:c.5172_5176del MANE Select	ENSP00000219476.3:p.Val1725SerfsTer2
ENST00000350773.9:c.5103_5107del	ENSP00000344383.4:p.Val1702SerfsTer2
ENST00000401874.7:c.4971_4975del	ENSP00000384468.2:p.Val1658SerfsTer2
ENST00000568454.6:c.5004_5008del	ENSP00000454487.1:p.Val1669SerfsTer2
ENST00000569110.2:c.1395_1399del
ENST00000569930.2:n.3054_3058del
ENST00000642365.1:c.3826_3830del
ENST00000642561.1:c.5032-1_5035del
ENST00000642791.1:n.769_773del
ENST00000642797.1:c.4974_4978del	ENSP00000493846.1:p.Val1659SerfsTer2
ENST00000642936.1:c.5040_5044del	ENSP00000494514.1:p.Val1681SerfsTer2
ENST00000643088.1:c.4965_4969del	ENSP00000494747.1:p.Val1656SerfsTer2
ENST00000643426.1:n.2820_2824del
ENST00000643946.1:c.5097_5101del	ENSP00000495927.1:p.Val1700SerfsTer2
ENST00000644043.1:c.5043_5047del	ENSP00000496262.1:p.Val1682SerfsTer2
ENST00000644329.1:c.5058_5062del	ENSP00000496611.1:p.Val1687SerfsTer2
ENST00000644335.1:c.4968_4972del	ENSP00000496317.1:p.Val1657SerfsTer2
ENST00000644399.1:c.5093_5097del
ENST00000645024.1:n.3256_3260del
ENST00000646388.1:c.5166_5170del	ENSP00000495921.1:p.Val1723SerfsTer2
ENST00000646634.1:n.3987_3991del
ENST00000646674.1:n.2424_2428del
ENST00000647042.1:n.2395_2399del
ENST00000647180.1:n.2285_2289del
ENST00000219476.7:c.5172_5176del	ENSP00000219476.3:p.Val1725SerfsTer2
ENST00000350773.8:c.5103_5107del	ENSP00000344383.4:p.Val1702SerfsTer2
ENST00000382538.10:c.4827_4831del	ENSP00000371978.6:p.Val1610SerfsTer2
ENST00000401874.6:c.4971_4975del	ENSP00000384468.2:p.Val1658SerfsTer2
ENST00000439117.6:c.*4339_*4343del	ENSP00000406980.2:n.*4339_*4343del
ENST00000439673.6:c.4863_4867del	ENSP00000399232.2:p.Val1622SerfsTer2
ENST00000497886.5:n.2895_2899del
ENST00000568454.5:c.5004_5008del	ENSP00000454487.1:p.Val1669SerfsTer2
ENST00000569110.1:c.1354_1358del
ENST00000569930.1:n.2287_2291del
NM_000548.3:c.5172_5176del , LRG_487t1:c.5172_5176del	NP_000539.2:p.Val1725SerfsTer2
NM_001077183.1:c.4971_4975del	NP_001070651.1:p.Val1658SerfsTer2
NM_001114382.1:c.5103_5107del	NP_001107854.1:p.Val1702SerfsTer2
XM_005255529.3:c.5043_5047del	XP_005255586.2:p.Val1682SerfsTer2
XM_005255531.3:c.4974_4978del	XP_005255588.2:p.Val1659SerfsTer2
XM_011522636.1:c.5226_5230del	XP_011520938.1:p.Val1743SerfsTer2
XM_011522637.1:c.5223_5227del	XP_011520939.1:p.Val1742SerfsTer2
XM_011522638.1:c.5115_5119del	XP_011520940.1:p.Val1706SerfsTer2
XM_011522639.1:c.5097_5101del	XP_011520941.1:p.Val1700SerfsTer2
XM_011522640.1:c.5094_5098del	XP_011520942.1:p.Val1699SerfsTer2
XM_011522641.1:c.4863_4867del	XP_011520943.1:p.Val1622SerfsTer2
NM_000548.4:c.5172_5176del	NP_000539.2:p.Val1725SerfsTer2
NM_001077183.2:c.4971_4975del	NP_001070651.1:p.Val1658SerfsTer2
NM_001114382.2:c.5103_5107del	NP_001107854.1:p.Val1702SerfsTer2
NM_001318827.1:c.4863_4867del	NP_001305756.1:p.Val1622SerfsTer2
NM_001318829.1:c.4827_4831del	NP_001305758.1:p.Val1610SerfsTer2
NM_001318831.1:c.4440_4444del	NP_001305760.1:p.Val1481SerfsTer2
NM_001318832.1:c.5004_5008del	NP_001305761.1:p.Val1669SerfsTer2
NM_001363528.1:c.4974_4978del	NP_001350457.1:p.Val1659SerfsTer2
NM_021055.2:c.5043_5047del	NP_066399.2:p.Val1682SerfsTer2
XM_005255531.4:c.4974_4978del	XP_005255588.2:p.Val1659SerfsTer2
XM_011522636.2:c.5226_5230del	XP_011520938.1:p.Val1743SerfsTer2
XM_011522637.2:c.5223_5227del	XP_011520939.1:p.Val1742SerfsTer2
XM_011522638.2:c.5388_5392del	XP_011520940.2:p.Val1797SerfsTer2
XM_011522639.2:c.5097_5101del	XP_011520941.1:p.Val1700SerfsTer2
XM_011522640.2:c.5094_5098del	XP_011520942.1:p.Val1699SerfsTer2
XM_017023615.1:c.5169_5173del	XP_016879104.1:p.Val1724SerfsTer2
XM_017023616.1:c.5040_5044del	XP_016879105.1:p.Val1681SerfsTer2
XM_017023617.1:c.5136_5140del	XP_016879106.1:p.Val1713SerfsTer2
XM_017023618.1:c.3882_3886del	XP_016879107.1:p.Val1295SerfsTer2
XM_024450413.1:c.5058_5062del	XP_024306181.1:p.Val1687SerfsTer2
NM_000548.5:c.5172_5176del MANE Select	NP_000539.2:p.Val1725SerfsTer2
NM_001370404.1:c.5040_5044del	NP_001357333.1:p.Val1681SerfsTer2
NM_001370405.1:c.5032-1_5035del
NM_001077183.3:c.4971_4975del	NP_001070651.1:p.Val1658SerfsTer2
NM_001114382.3:c.5103_5107del	NP_001107854.1:p.Val1702SerfsTer2
NM_001318827.2:c.4863_4867del	NP_001305756.1:p.Val1622SerfsTer2
NM_001318829.2:c.4827_4831del	NP_001305758.1:p.Val1610SerfsTer2
NM_001318831.2:c.4440_4444del	NP_001305760.1:p.Val1481SerfsTer2
NM_001318832.2:c.5004_5008del	NP_001305761.1:p.Val1669SerfsTer2
NM_001363528.2:c.4974_4978del	NP_001350457.1:p.Val1659SerfsTer2
NM_021055.3:c.5043_5047del	NP_066399.2:p.Val1682SerfsTer2