Canonical Allele Identifier: CA2202029128
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079363_2079365delinsGGG , CM000678.2:g.2079363_2079365delinsGGG GRCh38
NC_000016.9:g.2129364_2129366delinsGGG , CM000678.1:g.2129364_2129366delinsGGG GRCh37
NC_000016.8:g.2069365_2069367delinsGGG NCBI36
NG_005895.1:g.35058_35060delinsGGG , LRG_487:g.35058_35060delinsGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1637_*1639delinsGGG ENSP00000455997.2:n.*1637_*1639delinsGGG
ENST00000642206.2:c.3135_3137delinsGGG ENSP00000495146.2:p.Val1045=
ENST00000642365.2:c.3216_3218delinsGGG ENSP00000495459.2:p.Val1072=
ENST00000644417.2:c.*3668_*3670delinsGGG ENSP00000493912.2:n.*3668_*3670delinsGGG
ENST00000646464.2:c.*4141_*4143delinsGGG ENSP00000496610.2:n.*4141_*4143delinsGGG
ENST00000219476.9:c.3219_3221delinsGGG MANE Select ENSP00000219476.3:p.Val1073=
ENST00000350773.9:c.3219_3221delinsGGG ENSP00000344383.4:p.Val1073=
ENST00000401874.7:c.3087_3089delinsGGG ENSP00000384468.2:p.Val1029=
ENST00000471143.6:c.447_449delinsGGG ENSP00000458541.2:n.447_449delinsGGG
ENST00000568454.6:c.3120_3122delinsGGG ENSP00000454487.1:p.Val1040=
ENST00000642365.1:c.1873_1875delinsGGG
ENST00000642561.1:c.3090_3092delinsGGG ENSP00000495099.1:p.Val1030=
ENST00000642797.1:c.3090_3092delinsGGG ENSP00000493846.1:p.Val1030=
ENST00000642936.1:c.3087_3089delinsGGG ENSP00000494514.1:p.Val1029=
ENST00000643088.1:c.3087_3089delinsGGG ENSP00000494747.1:p.Val1029=
ENST00000643946.1:c.3219_3221delinsGGG ENSP00000495927.1:p.Val1073=
ENST00000644043.1:c.3090_3092delinsGGG ENSP00000496262.1:p.Val1030=
ENST00000644329.1:c.3087_3089delinsGGG ENSP00000496611.1:p.Val1029=
ENST00000644335.1:c.3090_3092delinsGGG ENSP00000496317.1:p.Val1030=
ENST00000644399.1:c.3209_3211delinsGGG
ENST00000644722.1:n.365_367delinsGGG
ENST00000645024.1:n.1372_1374delinsGGG
ENST00000646388.1:c.3219_3221delinsGGG ENSP00000495921.1:p.Val1073=
ENST00000646634.1:n.2103_2105delinsGGG
ENST00000647042.1:n.511_513delinsGGG
ENST00000219476.7:c.3219_3221delinsGGG ENSP00000219476.3:p.Val1073=
ENST00000350773.8:c.3219_3221delinsGGG ENSP00000344383.4:p.Val1073=
ENST00000382538.10:c.2943_2945delinsGGG ENSP00000371978.6:p.Val981=
ENST00000401874.6:c.3087_3089delinsGGG ENSP00000384468.2:p.Val1029=
ENST00000439117.6:c.*2386_*2388delinsGGG ENSP00000406980.2:n.*2386_*2388delinsGGG
ENST00000439673.6:c.2979_2981delinsGGG ENSP00000399232.2:p.Val993=
ENST00000471143.5:c.445_447delinsGGG
ENST00000483020.5:c.459_461delinsGGG ENSP00000460310.1:n.459_461delinsGGG
ENST00000497886.5:n.1046_1048delinsGGG
ENST00000561695.1:n.444_446delinsGGG
ENST00000568366.5:n.576_578delinsGGG
ENST00000568454.5:c.3120_3122delinsGGG ENSP00000454487.1:p.Val1040=
NM_000548.3:c.3219_3221delinsGGG , LRG_487t1:c.3219_3221delinsGGG NP_000539.2:p.Val1073=
NM_001077183.1:c.3087_3089delinsGGG NP_001070651.1:p.Val1029=
NM_001114382.1:c.3219_3221delinsGGG NP_001107854.1:p.Val1073=
XM_005255529.3:c.3090_3092delinsGGG XP_005255586.2:p.Val1030=
XM_005255531.3:c.3090_3092delinsGGG XP_005255588.2:p.Val1030=
XM_011522636.1:c.3219_3221delinsGGG XP_011520938.1:p.Val1073=
XM_011522637.1:c.3216_3218delinsGGG XP_011520939.1:p.Val1072=
XM_011522638.1:c.3108_3110delinsGGG XP_011520940.1:p.Val1036=
XM_011522639.1:c.3090_3092delinsGGG XP_011520941.1:p.Val1030=
XM_011522640.1:c.3087_3089delinsGGG XP_011520942.1:p.Val1029=
XM_011522641.1:c.2979_2981delinsGGG XP_011520943.1:p.Val993=
NM_000548.4:c.3219_3221delinsGGG NP_000539.2:p.Val1073=
NM_001077183.2:c.3087_3089delinsGGG NP_001070651.1:p.Val1029=
NM_001114382.2:c.3219_3221delinsGGG NP_001107854.1:p.Val1073=
NM_001318827.1:c.2979_2981delinsGGG NP_001305756.1:p.Val993=
NM_001318829.1:c.2943_2945delinsGGG NP_001305758.1:p.Val981=
NM_001318831.1:c.2487_2489delinsGGG NP_001305760.1:p.Val829=
NM_001318832.1:c.3120_3122delinsGGG NP_001305761.1:p.Val1040=
NM_001363528.1:c.3090_3092delinsGGG NP_001350457.1:p.Val1030=
NM_021055.2:c.3090_3092delinsGGG NP_066399.2:p.Val1030=
XM_005255531.4:c.3090_3092delinsGGG XP_005255588.2:p.Val1030=
XM_011522636.2:c.3219_3221delinsGGG XP_011520938.1:p.Val1073=
XM_011522637.2:c.3216_3218delinsGGG XP_011520939.1:p.Val1072=
XM_011522638.2:c.3381_3383delinsGGG XP_011520940.2:p.Val1127=
XM_011522639.2:c.3090_3092delinsGGG XP_011520941.1:p.Val1030=
XM_011522640.2:c.3087_3089delinsGGG XP_011520942.1:p.Val1029=
XM_017023615.1:c.3216_3218delinsGGG XP_016879104.1:p.Val1072=
XM_017023616.1:c.3087_3089delinsGGG XP_016879105.1:p.Val1029=
XM_017023617.1:c.3252_3254delinsGGG XP_016879106.1:p.Val1084=
XM_017023618.1:c.1875_1877delinsGGG XP_016879107.1:p.Val625=
XM_024450413.1:c.3087_3089delinsGGG XP_024306181.1:p.Val1029=
NM_000548.5:c.3219_3221delinsGGG MANE Select NP_000539.2:p.Val1073=
NM_001370404.1:c.3087_3089delinsGGG NP_001357333.1:p.Val1029=
NM_001370405.1:c.3090_3092delinsGGG NP_001357334.1:p.Val1030=
NM_001077183.3:c.3087_3089delinsGGG NP_001070651.1:p.Val1029=
NM_001114382.3:c.3219_3221delinsGGG NP_001107854.1:p.Val1073=
NM_001318827.2:c.2979_2981delinsGGG NP_001305756.1:p.Val993=
NM_001318829.2:c.2943_2945delinsGGG NP_001305758.1:p.Val981=
NM_001318831.2:c.2487_2489delinsGGG NP_001305760.1:p.Val829=
NM_001318832.2:c.3120_3122delinsGGG NP_001305761.1:p.Val1040=
NM_001363528.2:c.3090_3092delinsGGG NP_001350457.1:p.Val1030=
NM_021055.3:c.3090_3092delinsGGG NP_066399.2:p.Val1030=