Canonical Allele Identifier: CA2202018492
Gene: TSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2076085_2076124delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG , CM000678.2:g.2076085_2076124delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG GRCh38
NC_000016.9:g.2126086_2126125delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG , CM000678.1:g.2126086_2126125delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG GRCh37
NC_000016.8:g.2066087_2066126delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NCBI36
NG_005895.1:g.31780_31819delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG , LRG_487:g.31780_31819delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1204_*1243delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000455997.2:n.*1204_*1243delinsTGTG...
ENST00000642206.2:c.2702_2741delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000495146.2:p.Val901=
ENST00000642365.2:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000495459.2:p.Val886=
ENST00000644417.2:c.*2094_*2133delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000493912.2:n.*2094_*2133delinsTGTG...
ENST00000646464.2:c.*3711_*3750delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000496610.2:n.*3711_*3750delinsTGTG...
ENST00000219476.9:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG MANE Select ENSP00000219476.3:p.Val886=
ENST00000350773.9:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000344383.4:p.Val886=
ENST00000401874.7:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000384468.2:p.Val886=
ENST00000568454.6:c.2690_2729delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000454487.1:p.Val897=
ENST00000642365.1:c.1314_1353delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG
ENST00000642561.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000495099.1:p.Val886=
ENST00000642797.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000493846.1:p.Val886=
ENST00000642936.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000494514.1:p.Val886=
ENST00000643088.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000494747.1:p.Val886=
ENST00000643946.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000495927.1:p.Val886=
ENST00000644043.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000496262.1:p.Val886=
ENST00000644329.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000496611.1:p.Val886=
ENST00000644335.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000496317.1:p.Val886=
ENST00000644399.1:c.2650_2689delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG
ENST00000645024.1:n.939_978delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG
ENST00000646388.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000495921.1:p.Val886=
ENST00000646634.1:n.1670_1709delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG
ENST00000219476.7:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000219476.3:p.Val886=
ENST00000350773.8:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000344383.4:p.Val886=
ENST00000382538.10:c.2510_2549delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000371978.6:p.Val837=
ENST00000401874.6:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000384468.2:p.Val886=
ENST00000439117.6:c.*1956_*1995delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000406980.2:n.*1956_*1995delinsTGTG...
ENST00000439673.6:c.2546_2585delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000399232.2:p.Val849=
ENST00000568454.5:c.2690_2729delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG ENSP00000454487.1:p.Val897=
NM_000548.3:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG , LRG_487t1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_000539.2:p.Val886=
NM_001077183.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001070651.1:p.Val886=
NM_001114382.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001107854.1:p.Val886=
XM_005255529.3:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_005255586.2:p.Val886=
XM_005255531.3:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_005255588.2:p.Val886=
XM_011522636.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520938.1:p.Val886=
XM_011522637.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520939.1:p.Val886=
XM_011522638.1:c.2546_2585delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520940.1:p.Val849=
XM_011522639.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520941.1:p.Val886=
XM_011522640.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520942.1:p.Val886=
XM_011522641.1:c.2546_2585delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520943.1:p.Val849=
NM_000548.4:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_000539.2:p.Val886=
NM_001077183.2:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001070651.1:p.Val886=
NM_001114382.2:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001107854.1:p.Val886=
NM_001318827.1:c.2546_2585delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001305756.1:p.Val849=
NM_001318829.1:c.2510_2549delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001305758.1:p.Val837=
NM_001318831.1:c.2057_2096delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001305760.1:p.Val686=
NM_001318832.1:c.2690_2729delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001305761.1:p.Val897=
NM_001363528.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001350457.1:p.Val886=
NM_021055.2:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_066399.2:p.Val886=
XM_005255531.4:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_005255588.2:p.Val886=
XM_011522636.2:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520938.1:p.Val886=
XM_011522637.2:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520939.1:p.Val886=
XM_011522638.2:c.2819_2858delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520940.2:p.Val940=
XM_011522639.2:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520941.1:p.Val886=
XM_011522640.2:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_011520942.1:p.Val886=
XM_017023615.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_016879104.1:p.Val886=
XM_017023616.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_016879105.1:p.Val886=
XM_017023617.1:c.2819_2858delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_016879106.1:p.Val940=
XM_017023618.1:c.1313_1352delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_016879107.1:p.Val438=
XM_024450413.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG XP_024306181.1:p.Val886=
NM_000548.5:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG MANE Select NP_000539.2:p.Val886=
NM_001370404.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001357333.1:p.Val886=
NM_001370405.1:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001357334.1:p.Val886=
NM_001077183.3:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001070651.1:p.Val886=
NM_001114382.3:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001107854.1:p.Val886=
NM_001318827.2:c.2546_2585delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001305756.1:p.Val849=
NM_001318829.2:c.2510_2549delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001305758.1:p.Val837=
NM_001318831.2:c.2057_2096delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001305760.1:p.Val686=
NM_001318832.2:c.2690_2729delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001305761.1:p.Val897=
NM_001363528.2:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_001350457.1:p.Val886=
NM_021055.3:c.2657_2696delinsTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAG NP_066399.2:p.Val886=
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