Canonical Allele Identifier: CA2573151990

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1499602
• ClinVar RCV Id: RCV002012892
• dbSNP Id: rs2151640132

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088516_2088525del , CM000678.2:g.2088516_2088525del	GRCh38
NC_000016.9:g.2138517_2138526del , CM000678.1:g.2138517_2138526del	GRCh37
NC_000016.8:g.2078518_2078527del	NCBI36
NG_005895.1:g.44211_44220del , LRG_487:g.44211_44220del
NG_008617.1:g.54697_54706del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3679_*3688del	ENSP00000455997.2:n.*3679_*3688del
ENST00000642206.2:c.5177_5186del	ENSP00000495146.2:p.Pro1726LeufsTer?
ENST00000642365.2:c.5327_5336del	ENSP00000495459.2:p.Pro1776LeufsTer?
ENST00000644417.2:c.*5843_*5852del	ENSP00000493912.2:n.*5843_*5852del
ENST00000646464.2:c.*8079_*8088del	ENSP00000496610.2:n.*8079_*8088del
ENST00000219476.9:c.5330_5339del MANE Select	ENSP00000219476.3:p.Pro1777LeufsTer?
ENST00000350773.9:c.5261_5270del	ENSP00000344383.4:p.Pro1754LeufsTer?
ENST00000401874.7:c.5129_5138del	ENSP00000384468.2:p.Pro1710LeufsTer?
ENST00000568454.6:c.5162_5171del	ENSP00000454487.1:p.Pro1721LeufsTer?
ENST00000569110.2:c.1553_1562del
ENST00000569930.2:n.3212_3221del
ENST00000642365.1:c.3984_3993del
ENST00000642561.1:c.5189_5198del	ENSP00000495099.1:p.Pro1730LeufsTer?
ENST00000642791.1:n.927_936del
ENST00000642797.1:c.5132_5141del	ENSP00000493846.1:p.Pro1711LeufsTer?
ENST00000642936.1:c.5198_5207del	ENSP00000494514.1:p.Pro1733LeufsTer?
ENST00000643088.1:c.5123_5132del	ENSP00000494747.1:p.Pro1708LeufsTer?
ENST00000643426.1:n.2978_2987del
ENST00000643946.1:c.5255_5264del	ENSP00000495927.1:p.Pro1752LeufsTer?
ENST00000644043.1:c.5201_5210del	ENSP00000496262.1:p.Pro1734LeufsTer?
ENST00000644329.1:c.5216_5225del	ENSP00000496611.1:p.Pro1739LeufsTer?
ENST00000644335.1:c.5126_5135del	ENSP00000496317.1:p.Pro1709LeufsTer?
ENST00000644399.1:c.5251_5260del
ENST00000645024.1:n.3414_3423del
ENST00000646388.1:c.5324_5333del	ENSP00000495921.1:p.Pro1775LeufsTer?
ENST00000646634.1:n.4145_4154del
ENST00000646674.1:n.2582_2591del
ENST00000647042.1:n.2553_2562del
ENST00000647180.1:n.2443_2452del
ENST00000219476.7:c.5330_5339del	ENSP00000219476.3:p.Pro1777LeufsTer?
ENST00000350773.8:c.5261_5270del	ENSP00000344383.4:p.Pro1754LeufsTer?
ENST00000382538.10:c.4985_4994del	ENSP00000371978.6:p.Pro1662LeufsTer?
ENST00000401874.6:c.5129_5138del	ENSP00000384468.2:p.Pro1710LeufsTer?
ENST00000439117.6:c.*4497_*4506del	ENSP00000406980.2:n.*4497_*4506del
ENST00000439673.6:c.5021_5030del	ENSP00000399232.2:p.Pro1674LeufsTer?
ENST00000497886.5:n.3053_3062del
ENST00000568454.5:c.5162_5171del	ENSP00000454487.1:p.Pro1721LeufsTer?
ENST00000569110.1:c.1512_1521del
ENST00000569930.1:n.2445_2454del
NM_000548.3:c.5330_5339del , LRG_487t1:c.5330_5339del	NP_000539.2:p.Pro1777LeufsTer?
NM_001077183.1:c.5129_5138del	NP_001070651.1:p.Pro1710LeufsTer?
NM_001114382.1:c.5261_5270del	NP_001107854.1:p.Pro1754LeufsTer?
XM_005255529.3:c.5201_5210del	XP_005255586.2:p.Pro1734LeufsTer?
XM_005255531.3:c.5132_5141del	XP_005255588.2:p.Pro1711LeufsTer?
XM_011522636.1:c.5384_5393del	XP_011520938.1:p.Pro1795LeufsTer?
XM_011522637.1:c.5381_5390del	XP_011520939.1:p.Pro1794LeufsTer?
XM_011522638.1:c.5273_5282del	XP_011520940.1:p.Pro1758LeufsTer?
XM_011522639.1:c.5255_5264del	XP_011520941.1:p.Pro1752LeufsTer?
XM_011522640.1:c.5252_5261del	XP_011520942.1:p.Pro1751LeufsTer?
XM_011522641.1:c.5021_5030del	XP_011520943.1:p.Pro1674LeufsTer?
NM_000548.4:c.5330_5339del	NP_000539.2:p.Pro1777LeufsTer?
NM_001077183.2:c.5129_5138del	NP_001070651.1:p.Pro1710LeufsTer?
NM_001114382.2:c.5261_5270del	NP_001107854.1:p.Pro1754LeufsTer?
NM_001318827.1:c.5021_5030del	NP_001305756.1:p.Pro1674LeufsTer?
NM_001318829.1:c.4985_4994del	NP_001305758.1:p.Pro1662LeufsTer?
NM_001318831.1:c.4598_4607del	NP_001305760.1:p.Pro1533LeufsTer?
NM_001318832.1:c.5162_5171del	NP_001305761.1:p.Pro1721LeufsTer?
NM_001363528.1:c.5132_5141del	NP_001350457.1:p.Pro1711LeufsTer?
NM_021055.2:c.5201_5210del	NP_066399.2:p.Pro1734LeufsTer?
XM_005255531.4:c.5132_5141del	XP_005255588.2:p.Pro1711LeufsTer?
XM_011522636.2:c.5384_5393del	XP_011520938.1:p.Pro1795LeufsTer?
XM_011522637.2:c.5381_5390del	XP_011520939.1:p.Pro1794LeufsTer?
XM_011522638.2:c.5546_5555del	XP_011520940.2:p.Pro1849LeufsTer?
XM_011522639.2:c.5255_5264del	XP_011520941.1:p.Pro1752LeufsTer?
XM_011522640.2:c.5252_5261del	XP_011520942.1:p.Pro1751LeufsTer?
XM_017023615.1:c.5327_5336del	XP_016879104.1:p.Pro1776LeufsTer?
XM_017023616.1:c.5198_5207del	XP_016879105.1:p.Pro1733LeufsTer?
XM_017023617.1:c.5294_5303del	XP_016879106.1:p.Pro1765LeufsTer?
XM_017023618.1:c.4040_4049del	XP_016879107.1:p.Pro1347LeufsTer?
XM_024450413.1:c.5216_5225del	XP_024306181.1:p.Pro1739LeufsTer?
NM_000548.5:c.5330_5339del MANE Select	NP_000539.2:p.Pro1777LeufsTer?
NM_001370404.1:c.5198_5207del	NP_001357333.1:p.Pro1733LeufsTer?
NM_001370405.1:c.5189_5198del	NP_001357334.1:p.Pro1730LeufsTer?
NM_001077183.3:c.5129_5138del	NP_001070651.1:p.Pro1710LeufsTer?
NM_001114382.3:c.5261_5270del	NP_001107854.1:p.Pro1754LeufsTer?
NM_001318827.2:c.5021_5030del	NP_001305756.1:p.Pro1674LeufsTer?
NM_001318829.2:c.4985_4994del	NP_001305758.1:p.Pro1662LeufsTer?
NM_001318831.2:c.4598_4607del	NP_001305760.1:p.Pro1533LeufsTer?
NM_001318832.2:c.5162_5171del	NP_001305761.1:p.Pro1721LeufsTer?
NM_001363528.2:c.5132_5141del	NP_001350457.1:p.Pro1711LeufsTer?
NM_021055.3:c.5201_5210del	NP_066399.2:p.Pro1734LeufsTer?