Canonical Allele Identifier: CA022261

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49415
• ClinVar RCV Id: RCV000042675
• dbSNP Id: rs137854396
• MyVariant Identifiers: chr16:g.2138301_2138304del (hg19) ; chr16:g.2088300_2088303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088300_2088303del , CM000678.2:g.2088300_2088303del	GRCh38
NC_000016.9:g.2138301_2138304del , CM000678.1:g.2138301_2138304del	GRCh37
NC_000016.8:g.2078302_2078305del	NCBI36
NG_005895.1:g.43995_43998del , LRG_487:g.43995_43998del
NG_008617.1:g.54918_54921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3583_*3586del	ENSP00000455997.2:n.*3583_*3586del
ENST00000642206.2:c.5081_5084del	ENSP00000495146.2:p.Arg1694ProfsTer?
ENST00000642365.2:c.5231_5234del	ENSP00000495459.2:p.Arg1744ProfsTer?
ENST00000644417.2:c.*5747_*5750del	ENSP00000493912.2:n.*5747_*5750del
ENST00000646464.2:c.*7983_*7986del	ENSP00000496610.2:n.*7983_*7986del
ENST00000219476.9:c.5234_5237del MANE Select	ENSP00000219476.3:p.Arg1745ProfsTer?
ENST00000350773.9:c.5165_5168del	ENSP00000344383.4:p.Arg1722ProfsTer?
ENST00000401874.7:c.5033_5036del	ENSP00000384468.2:p.Arg1678ProfsTer?
ENST00000568454.6:c.5066_5069del	ENSP00000454487.1:p.Arg1689ProfsTer?
ENST00000569110.2:c.1457_1460del
ENST00000569930.2:n.3116_3119del
ENST00000642365.1:c.3888_3891del
ENST00000642561.1:c.5093_5096del	ENSP00000495099.1:p.Arg1698ProfsTer?
ENST00000642791.1:n.831_834del
ENST00000642797.1:c.5036_5039del	ENSP00000493846.1:p.Arg1679ProfsTer?
ENST00000642936.1:c.5102_5105del	ENSP00000494514.1:p.Arg1701ProfsTer?
ENST00000643088.1:c.5027_5030del	ENSP00000494747.1:p.Arg1676ProfsTer?
ENST00000643426.1:n.2882_2885del
ENST00000643946.1:c.5159_5162del	ENSP00000495927.1:p.Arg1720ProfsTer?
ENST00000644043.1:c.5105_5108del	ENSP00000496262.1:p.Arg1702ProfsTer?
ENST00000644329.1:c.5120_5123del	ENSP00000496611.1:p.Arg1707ProfsTer?
ENST00000644335.1:c.5030_5033del	ENSP00000496317.1:p.Arg1677ProfsTer?
ENST00000644399.1:c.5155_5158del
ENST00000645024.1:n.3318_3321del
ENST00000646388.1:c.5228_5231del	ENSP00000495921.1:p.Arg1743ProfsTer?
ENST00000646634.1:n.4049_4052del
ENST00000646674.1:n.2486_2489del
ENST00000647042.1:n.2457_2460del
ENST00000647180.1:n.2347_2350del
ENST00000219476.7:c.5234_5237del	ENSP00000219476.3:p.Arg1745ProfsTer?
ENST00000350773.8:c.5165_5168del	ENSP00000344383.4:p.Arg1722ProfsTer?
ENST00000382538.10:c.4889_4892del	ENSP00000371978.6:p.Arg1630ProfsTer?
ENST00000401874.6:c.5033_5036del	ENSP00000384468.2:p.Arg1678ProfsTer?
ENST00000439117.6:c.*4401_*4404del	ENSP00000406980.2:n.*4401_*4404del
ENST00000439673.6:c.4925_4928del	ENSP00000399232.2:p.Arg1642ProfsTer?
ENST00000497886.5:n.2957_2960del
ENST00000568454.5:c.5066_5069del	ENSP00000454487.1:p.Arg1689ProfsTer?
ENST00000569110.1:c.1416_1419del
ENST00000569930.1:n.2349_2352del
NM_000548.3:c.5234_5237del , LRG_487t1:c.5234_5237del	NP_000539.2:p.Arg1745ProfsTer?
NM_001077183.1:c.5033_5036del	NP_001070651.1:p.Arg1678ProfsTer?
NM_001114382.1:c.5165_5168del	NP_001107854.1:p.Arg1722ProfsTer?
XM_005255529.3:c.5105_5108del	XP_005255586.2:p.Arg1702ProfsTer?
XM_005255531.3:c.5036_5039del	XP_005255588.2:p.Arg1679ProfsTer?
XM_011522636.1:c.5288_5291del	XP_011520938.1:p.Arg1763ProfsTer?
XM_011522637.1:c.5285_5288del	XP_011520939.1:p.Arg1762ProfsTer?
XM_011522638.1:c.5177_5180del	XP_011520940.1:p.Arg1726ProfsTer?
XM_011522639.1:c.5159_5162del	XP_011520941.1:p.Arg1720ProfsTer?
XM_011522640.1:c.5156_5159del	XP_011520942.1:p.Arg1719ProfsTer?
XM_011522641.1:c.4925_4928del	XP_011520943.1:p.Arg1642ProfsTer?
NM_000548.4:c.5234_5237del	NP_000539.2:p.Arg1745ProfsTer?
NM_001077183.2:c.5033_5036del	NP_001070651.1:p.Arg1678ProfsTer?
NM_001114382.2:c.5165_5168del	NP_001107854.1:p.Arg1722ProfsTer?
NM_001318827.1:c.4925_4928del	NP_001305756.1:p.Arg1642ProfsTer?
NM_001318829.1:c.4889_4892del	NP_001305758.1:p.Arg1630ProfsTer?
NM_001318831.1:c.4502_4505del	NP_001305760.1:p.Arg1501ProfsTer?
NM_001318832.1:c.5066_5069del	NP_001305761.1:p.Arg1689ProfsTer?
NM_001363528.1:c.5036_5039del	NP_001350457.1:p.Arg1679ProfsTer?
NM_021055.2:c.5105_5108del	NP_066399.2:p.Arg1702ProfsTer?
XM_005255531.4:c.5036_5039del	XP_005255588.2:p.Arg1679ProfsTer?
XM_011522636.2:c.5288_5291del	XP_011520938.1:p.Arg1763ProfsTer?
XM_011522637.2:c.5285_5288del	XP_011520939.1:p.Arg1762ProfsTer?
XM_011522638.2:c.5450_5453del	XP_011520940.2:p.Arg1817ProfsTer?
XM_011522639.2:c.5159_5162del	XP_011520941.1:p.Arg1720ProfsTer?
XM_011522640.2:c.5156_5159del	XP_011520942.1:p.Arg1719ProfsTer?
XM_017023615.1:c.5231_5234del	XP_016879104.1:p.Arg1744ProfsTer?
XM_017023616.1:c.5102_5105del	XP_016879105.1:p.Arg1701ProfsTer?
XM_017023617.1:c.5198_5201del	XP_016879106.1:p.Arg1733ProfsTer?
XM_017023618.1:c.3944_3947del	XP_016879107.1:p.Arg1315ProfsTer?
XM_024450413.1:c.5120_5123del	XP_024306181.1:p.Arg1707ProfsTer?
NM_000548.5:c.5234_5237del MANE Select	NP_000539.2:p.Arg1745ProfsTer?
NM_001370404.1:c.5102_5105del	NP_001357333.1:p.Arg1701ProfsTer?
NM_001370405.1:c.5093_5096del	NP_001357334.1:p.Arg1698ProfsTer?
NM_001077183.3:c.5033_5036del	NP_001070651.1:p.Arg1678ProfsTer?
NM_001114382.3:c.5165_5168del	NP_001107854.1:p.Arg1722ProfsTer?
NM_001318827.2:c.4925_4928del	NP_001305756.1:p.Arg1642ProfsTer?
NM_001318829.2:c.4889_4892del	NP_001305758.1:p.Arg1630ProfsTer?
NM_001318831.2:c.4502_4505del	NP_001305760.1:p.Arg1501ProfsTer?
NM_001318832.2:c.5066_5069del	NP_001305761.1:p.Arg1689ProfsTer?
NM_001363528.2:c.5036_5039del	NP_001350457.1:p.Arg1679ProfsTer?
NM_021055.3:c.5105_5108del	NP_066399.2:p.Arg1702ProfsTer?