Canonical Allele Identifier: CA645573330

Gene: TSC2

Linked Data

• COSMIC: COSM4517347 ; COSM4517348

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079375_2079376delinsTT , CM000678.2:g.2079375_2079376delinsTT	GRCh38
NC_000016.9:g.2129376_2129377delinsTT , CM000678.1:g.2129376_2129377delinsTT	GRCh37
NC_000016.8:g.2069377_2069378delinsTT	NCBI36
NG_005895.1:g.35070_35071delinsTT , LRG_487:g.35070_35071delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1649_*1650delinsTT	ENSP00000455997.2:n.*1649_*1650delinsTT
ENST00000642206.2:c.3147_3148delinsTT	ENSP00000495146.2:p.Arg1050Trp
ENST00000642365.2:c.3228_3229delinsTT	ENSP00000495459.2:p.Arg1077Trp
ENST00000644417.2:c.*3680_*3681delinsTT	ENSP00000493912.2:n.*3680_*3681delinsTT
ENST00000646464.2:c.*4153_*4154delinsTT	ENSP00000496610.2:n.*4153_*4154delinsTT
ENST00000219476.9:c.3231_3232delinsTT MANE Select	ENSP00000219476.3:p.Arg1078Trp
ENST00000350773.9:c.3231_3232delinsTT	ENSP00000344383.4:p.Arg1078Trp
ENST00000401874.7:c.3099_3100delinsTT	ENSP00000384468.2:p.Arg1034Trp
ENST00000471143.6:c.459_460delinsTT	ENSP00000458541.2:n.459_460delinsTT
ENST00000568454.6:c.3132_3133delinsTT	ENSP00000454487.1:p.Arg1045Trp
ENST00000642365.1:c.1885_1886delinsTT
ENST00000642561.1:c.3102_3103delinsTT	ENSP00000495099.1:p.Arg1035Trp
ENST00000642797.1:c.3102_3103delinsTT	ENSP00000493846.1:p.Arg1035Trp
ENST00000642936.1:c.3099_3100delinsTT	ENSP00000494514.1:p.Arg1034Trp
ENST00000643088.1:c.3099_3100delinsTT	ENSP00000494747.1:p.Arg1034Trp
ENST00000643946.1:c.3231_3232delinsTT	ENSP00000495927.1:p.Arg1078Trp
ENST00000644043.1:c.3102_3103delinsTT	ENSP00000496262.1:p.Arg1035Trp
ENST00000644329.1:c.3099_3100delinsTT	ENSP00000496611.1:p.Arg1034Trp
ENST00000644335.1:c.3102_3103delinsTT	ENSP00000496317.1:p.Arg1035Trp
ENST00000644399.1:c.3221_3222delinsTT
ENST00000644722.1:n.377_378delinsTT
ENST00000645024.1:n.1384_1385delinsTT
ENST00000646388.1:c.3231_3232delinsTT	ENSP00000495921.1:p.Arg1078Trp
ENST00000646634.1:n.2115_2116delinsTT
ENST00000647042.1:n.523_524delinsTT
ENST00000219476.7:c.3231_3232delinsTT	ENSP00000219476.3:p.Arg1078Trp
ENST00000350773.8:c.3231_3232delinsTT	ENSP00000344383.4:p.Arg1078Trp
ENST00000382538.10:c.2955_2956delinsTT	ENSP00000371978.6:p.Arg986Trp
ENST00000401874.6:c.3099_3100delinsTT	ENSP00000384468.2:p.Arg1034Trp
ENST00000439117.6:c.*2398_*2399delinsTT	ENSP00000406980.2:n.*2398_*2399delinsTT
ENST00000439673.6:c.2991_2992delinsTT	ENSP00000399232.2:p.Arg998Trp
ENST00000471143.5:c.457_458delinsTT
ENST00000483020.5:c.471_472delinsTT	ENSP00000460310.1:n.471_472delinsTT
ENST00000497886.5:n.1058_1059delinsTT
ENST00000561695.1:n.456_457delinsTT
ENST00000568366.5:n.588_589delinsTT
ENST00000568454.5:c.3132_3133delinsTT	ENSP00000454487.1:p.Arg1045Trp
NM_000548.3:c.3231_3232delinsTT , LRG_487t1:c.3231_3232delinsTT	NP_000539.2:p.Arg1078Trp
NM_001077183.1:c.3099_3100delinsTT	NP_001070651.1:p.Arg1034Trp
NM_001114382.1:c.3231_3232delinsTT	NP_001107854.1:p.Arg1078Trp
XM_005255529.3:c.3102_3103delinsTT	XP_005255586.2:p.Arg1035Trp
XM_005255531.3:c.3102_3103delinsTT	XP_005255588.2:p.Arg1035Trp
XM_011522636.1:c.3231_3232delinsTT	XP_011520938.1:p.Arg1078Trp
XM_011522637.1:c.3228_3229delinsTT	XP_011520939.1:p.Arg1077Trp
XM_011522638.1:c.3120_3121delinsTT	XP_011520940.1:p.Arg1041Trp
XM_011522639.1:c.3102_3103delinsTT	XP_011520941.1:p.Arg1035Trp
XM_011522640.1:c.3099_3100delinsTT	XP_011520942.1:p.Arg1034Trp
XM_011522641.1:c.2991_2992delinsTT	XP_011520943.1:p.Arg998Trp
NM_000548.4:c.3231_3232delinsTT	NP_000539.2:p.Arg1078Trp
NM_001077183.2:c.3099_3100delinsTT	NP_001070651.1:p.Arg1034Trp
NM_001114382.2:c.3231_3232delinsTT	NP_001107854.1:p.Arg1078Trp
NM_001318827.1:c.2991_2992delinsTT	NP_001305756.1:p.Arg998Trp
NM_001318829.1:c.2955_2956delinsTT	NP_001305758.1:p.Arg986Trp
NM_001318831.1:c.2499_2500delinsTT	NP_001305760.1:p.Arg834Trp
NM_001318832.1:c.3132_3133delinsTT	NP_001305761.1:p.Arg1045Trp
NM_001363528.1:c.3102_3103delinsTT	NP_001350457.1:p.Arg1035Trp
NM_021055.2:c.3102_3103delinsTT	NP_066399.2:p.Arg1035Trp
XM_005255531.4:c.3102_3103delinsTT	XP_005255588.2:p.Arg1035Trp
XM_011522636.2:c.3231_3232delinsTT	XP_011520938.1:p.Arg1078Trp
XM_011522637.2:c.3228_3229delinsTT	XP_011520939.1:p.Arg1077Trp
XM_011522638.2:c.3393_3394delinsTT	XP_011520940.2:p.Arg1132Trp
XM_011522639.2:c.3102_3103delinsTT	XP_011520941.1:p.Arg1035Trp
XM_011522640.2:c.3099_3100delinsTT	XP_011520942.1:p.Arg1034Trp
XM_017023615.1:c.3228_3229delinsTT	XP_016879104.1:p.Arg1077Trp
XM_017023616.1:c.3099_3100delinsTT	XP_016879105.1:p.Arg1034Trp
XM_017023617.1:c.3264_3265delinsTT	XP_016879106.1:p.Arg1089Trp
XM_017023618.1:c.1887_1888delinsTT	XP_016879107.1:p.Arg630Trp
XM_024450413.1:c.3099_3100delinsTT	XP_024306181.1:p.Arg1034Trp
NM_000548.5:c.3231_3232delinsTT MANE Select	NP_000539.2:p.Arg1078Trp
NM_001370404.1:c.3099_3100delinsTT	NP_001357333.1:p.Arg1034Trp
NM_001370405.1:c.3102_3103delinsTT	NP_001357334.1:p.Arg1035Trp
NM_001077183.3:c.3099_3100delinsTT	NP_001070651.1:p.Arg1034Trp
NM_001114382.3:c.3231_3232delinsTT	NP_001107854.1:p.Arg1078Trp
NM_001318827.2:c.2991_2992delinsTT	NP_001305756.1:p.Arg998Trp
NM_001318829.2:c.2955_2956delinsTT	NP_001305758.1:p.Arg986Trp
NM_001318831.2:c.2499_2500delinsTT	NP_001305760.1:p.Arg834Trp
NM_001318832.2:c.3132_3133delinsTT	NP_001305761.1:p.Arg1045Trp
NM_001363528.2:c.3102_3103delinsTT	NP_001350457.1:p.Arg1035Trp
NM_021055.3:c.3102_3103delinsTT	NP_066399.2:p.Arg1035Trp