Canonical Allele Identifier: CA916081800

Gene: TSC2

Linked Data

• ClinVar Variation Id: 859262
• ClinVar RCV Id: RCV001065329
• dbSNP Id: rs2091147162

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088300_2088307del , CM000678.2:g.2088300_2088307del	GRCh38
NC_000016.9:g.2138301_2138308del , CM000678.1:g.2138301_2138308del	GRCh37
NC_000016.8:g.2078302_2078309del	NCBI36
NG_005895.1:g.43995_44002del , LRG_487:g.43995_44002del
NG_008617.1:g.54915_54922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3583_*3590del	ENSP00000455997.2:n.*3583_*3590del
ENST00000642206.2:c.5081_5088del	ENSP00000495146.2:p.Arg1694GlnfsTer27
ENST00000642365.2:c.5231_5238del	ENSP00000495459.2:p.Arg1744GlnfsTer27
ENST00000644417.2:c.*5747_*5754del	ENSP00000493912.2:n.*5747_*5754del
ENST00000646464.2:c.*7983_*7990del	ENSP00000496610.2:n.*7983_*7990del
ENST00000219476.9:c.5234_5241del MANE Select	ENSP00000219476.3:p.Arg1745GlnfsTer27
ENST00000350773.9:c.5165_5172del	ENSP00000344383.4:p.Arg1722GlnfsTer27
ENST00000401874.7:c.5033_5040del	ENSP00000384468.2:p.Arg1678GlnfsTer27
ENST00000568454.6:c.5066_5073del	ENSP00000454487.1:p.Arg1689GlnfsTer27
ENST00000569110.2:c.1457_1464del
ENST00000569930.2:n.3116_3123del
ENST00000642365.1:c.3888_3895del
ENST00000642561.1:c.5093_5100del	ENSP00000495099.1:p.Arg1698GlnfsTer27
ENST00000642791.1:n.831_838del
ENST00000642797.1:c.5036_5043del	ENSP00000493846.1:p.Arg1679GlnfsTer27
ENST00000642936.1:c.5102_5109del	ENSP00000494514.1:p.Arg1701GlnfsTer27
ENST00000643088.1:c.5027_5034del	ENSP00000494747.1:p.Arg1676GlnfsTer27
ENST00000643426.1:n.2882_2889del
ENST00000643946.1:c.5159_5166del	ENSP00000495927.1:p.Arg1720GlnfsTer27
ENST00000644043.1:c.5105_5112del	ENSP00000496262.1:p.Arg1702GlnfsTer27
ENST00000644329.1:c.5120_5127del	ENSP00000496611.1:p.Arg1707GlnfsTer27
ENST00000644335.1:c.5030_5037del	ENSP00000496317.1:p.Arg1677GlnfsTer27
ENST00000644399.1:c.5155_5162del
ENST00000645024.1:n.3318_3325del
ENST00000646388.1:c.5228_5235del	ENSP00000495921.1:p.Arg1743GlnfsTer27
ENST00000646634.1:n.4049_4056del
ENST00000646674.1:n.2486_2493del
ENST00000647042.1:n.2457_2464del
ENST00000647180.1:n.2347_2354del
ENST00000219476.7:c.5234_5241del	ENSP00000219476.3:p.Arg1745GlnfsTer27
ENST00000350773.8:c.5165_5172del	ENSP00000344383.4:p.Arg1722GlnfsTer27
ENST00000382538.10:c.4889_4896del	ENSP00000371978.6:p.Arg1630GlnfsTer27
ENST00000401874.6:c.5033_5040del	ENSP00000384468.2:p.Arg1678GlnfsTer27
ENST00000439117.6:c.*4401_*4408del	ENSP00000406980.2:n.*4401_*4408del
ENST00000439673.6:c.4925_4932del	ENSP00000399232.2:p.Arg1642GlnfsTer27
ENST00000497886.5:n.2957_2964del
ENST00000568454.5:c.5066_5073del	ENSP00000454487.1:p.Arg1689GlnfsTer27
ENST00000569110.1:c.1416_1423del
ENST00000569930.1:n.2349_2356del
NM_000548.3:c.5234_5241del , LRG_487t1:c.5234_5241del	NP_000539.2:p.Arg1745GlnfsTer27
NM_001077183.1:c.5033_5040del	NP_001070651.1:p.Arg1678GlnfsTer27
NM_001114382.1:c.5165_5172del	NP_001107854.1:p.Arg1722GlnfsTer27
XM_005255529.3:c.5105_5112del	XP_005255586.2:p.Arg1702GlnfsTer27
XM_005255531.3:c.5036_5043del	XP_005255588.2:p.Arg1679GlnfsTer27
XM_011522636.1:c.5288_5295del	XP_011520938.1:p.Arg1763GlnfsTer27
XM_011522637.1:c.5285_5292del	XP_011520939.1:p.Arg1762GlnfsTer27
XM_011522638.1:c.5177_5184del	XP_011520940.1:p.Arg1726GlnfsTer27
XM_011522639.1:c.5159_5166del	XP_011520941.1:p.Arg1720GlnfsTer27
XM_011522640.1:c.5156_5163del	XP_011520942.1:p.Arg1719GlnfsTer27
XM_011522641.1:c.4925_4932del	XP_011520943.1:p.Arg1642GlnfsTer27
NM_000548.4:c.5234_5241del	NP_000539.2:p.Arg1745GlnfsTer27
NM_001077183.2:c.5033_5040del	NP_001070651.1:p.Arg1678GlnfsTer27
NM_001114382.2:c.5165_5172del	NP_001107854.1:p.Arg1722GlnfsTer27
NM_001318827.1:c.4925_4932del	NP_001305756.1:p.Arg1642GlnfsTer27
NM_001318829.1:c.4889_4896del	NP_001305758.1:p.Arg1630GlnfsTer27
NM_001318831.1:c.4502_4509del	NP_001305760.1:p.Arg1501GlnfsTer27
NM_001318832.1:c.5066_5073del	NP_001305761.1:p.Arg1689GlnfsTer27
NM_001363528.1:c.5036_5043del	NP_001350457.1:p.Arg1679GlnfsTer27
NM_021055.2:c.5105_5112del	NP_066399.2:p.Arg1702GlnfsTer27
XM_005255531.4:c.5036_5043del	XP_005255588.2:p.Arg1679GlnfsTer27
XM_011522636.2:c.5288_5295del	XP_011520938.1:p.Arg1763GlnfsTer27
XM_011522637.2:c.5285_5292del	XP_011520939.1:p.Arg1762GlnfsTer27
XM_011522638.2:c.5450_5457del	XP_011520940.2:p.Arg1817GlnfsTer27
XM_011522639.2:c.5159_5166del	XP_011520941.1:p.Arg1720GlnfsTer27
XM_011522640.2:c.5156_5163del	XP_011520942.1:p.Arg1719GlnfsTer27
XM_017023615.1:c.5231_5238del	XP_016879104.1:p.Arg1744GlnfsTer27
XM_017023616.1:c.5102_5109del	XP_016879105.1:p.Arg1701GlnfsTer27
XM_017023617.1:c.5198_5205del	XP_016879106.1:p.Arg1733GlnfsTer27
XM_017023618.1:c.3944_3951del	XP_016879107.1:p.Arg1315GlnfsTer27
XM_024450413.1:c.5120_5127del	XP_024306181.1:p.Arg1707GlnfsTer27
NM_000548.5:c.5234_5241del MANE Select	NP_000539.2:p.Arg1745GlnfsTer27
NM_001370404.1:c.5102_5109del	NP_001357333.1:p.Arg1701GlnfsTer27
NM_001370405.1:c.5093_5100del	NP_001357334.1:p.Arg1698GlnfsTer27
NM_001077183.3:c.5033_5040del	NP_001070651.1:p.Arg1678GlnfsTer27
NM_001114382.3:c.5165_5172del	NP_001107854.1:p.Arg1722GlnfsTer27
NM_001318827.2:c.4925_4932del	NP_001305756.1:p.Arg1642GlnfsTer27
NM_001318829.2:c.4889_4896del	NP_001305758.1:p.Arg1630GlnfsTer27
NM_001318831.2:c.4502_4509del	NP_001305760.1:p.Arg1501GlnfsTer27
NM_001318832.2:c.5066_5073del	NP_001305761.1:p.Arg1689GlnfsTer27
NM_001363528.2:c.5036_5043del	NP_001350457.1:p.Arg1679GlnfsTer27
NM_021055.3:c.5105_5112del	NP_066399.2:p.Arg1702GlnfsTer27