Canonical Allele Identifier: CA2697549580
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2761884
ClinVar RCV Id: RCV003512502

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084996_2084997insGGGCGACGAG , CM000678.2:g.2084996_2084997insGGGCGACGAG GRCh38
NC_000016.9:g.2134997_2134998insGGGCGACGAG , CM000678.1:g.2134997_2134998insGGGCGACGAG GRCh37
NC_000016.8:g.2074998_2074999insGGGCGACGAG NCBI36
NG_005895.1:g.40691_40692insGGGCGACGAG , LRG_487:g.40691_40692insGGGCGACGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2888_*2889insGGGCGACGAG ENSP00000455997.2:n.*2888_*2889insGGGCGAC...
ENST00000642206.2:c.4386_4387insGGGCGACGAG ENSP00000495146.2:p.Ser1463GlyfsTer13
ENST00000642365.2:c.4536_4537insGGGCGACGAG ENSP00000495459.2:p.Ser1513GlyfsTer13
ENST00000644417.2:c.*4919_*4920insGGGCGACGAG ENSP00000493912.2:n.*4919_*4920insGGGCGAC...
ENST00000646464.2:c.*7288_*7289insGGGCGACGAG ENSP00000496610.2:n.*7288_*7289insGGGCGAC...
ENST00000219476.9:c.4539_4540insGGGCGACGAG MANE Select ENSP00000219476.3:p.Ser1514GlyfsTer13
ENST00000350773.9:c.4470_4471insGGGCGACGAG ENSP00000344383.4:p.Ser1491GlyfsTer13
ENST00000401874.7:c.4338_4339insGGGCGACGAG ENSP00000384468.2:p.Ser1447GlyfsTer13
ENST00000568454.6:c.4371_4372insGGGCGACGAG ENSP00000454487.1:p.Ser1458GlyfsTer13
ENST00000569110.2:c.762_763insGGGCGACGAG
ENST00000569930.2:n.2421_2422insGGGCGACGAG
ENST00000642365.1:c.3193_3194insGGGCGACGAG
ENST00000642561.1:c.4410_4411insGGGCGACGAG ENSP00000495099.1:p.Ser1471GlyfsTer13
ENST00000642728.1:n.721_722insGGGCGACGAG
ENST00000642797.1:c.4341_4342insGGGCGACGAG ENSP00000493846.1:p.Ser1448GlyfsTer13
ENST00000642936.1:c.4407_4408insGGGCGACGAG ENSP00000494514.1:p.Ser1470GlyfsTer13
ENST00000643088.1:c.4338_4339insGGGCGACGAG ENSP00000494747.1:p.Ser1447GlyfsTer13
ENST00000643177.1:n.553_554insGGGCGACGAG
ENST00000643426.1:n.2187_2188insGGGCGACGAG
ENST00000643946.1:c.4470_4471insGGGCGACGAG ENSP00000495927.1:p.Ser1491GlyfsTer13
ENST00000644043.1:c.4410_4411insGGGCGACGAG ENSP00000496262.1:p.Ser1471GlyfsTer13
ENST00000644329.1:c.4338_4339insGGGCGACGAG ENSP00000496611.1:p.Ser1447GlyfsTer13
ENST00000644335.1:c.4341_4342insGGGCGACGAG ENSP00000496317.1:p.Ser1448GlyfsTer13
ENST00000644399.1:c.4460_4461insGGGCGACGAG
ENST00000645024.1:n.2623_2624insGGGCGACGAG
ENST00000646388.1:c.4539_4540insGGGCGACGAG ENSP00000495921.1:p.Ser1514GlyfsTer13
ENST00000646634.1:n.3354_3355insGGGCGACGAG
ENST00000646674.1:n.1791_1792insGGGCGACGAG
ENST00000647042.1:n.1762_1763insGGGCGACGAG
ENST00000647180.1:n.1652_1653insGGGCGACGAG
ENST00000219476.7:c.4539_4540insGGGCGACGAG ENSP00000219476.3:p.Ser1514GlyfsTer13
ENST00000350773.8:c.4470_4471insGGGCGACGAG ENSP00000344383.4:p.Ser1491GlyfsTer13
ENST00000382538.10:c.4194_4195insGGGCGACGAG ENSP00000371978.6:p.Ser1399GlyfsTer13
ENST00000401874.6:c.4338_4339insGGGCGACGAG ENSP00000384468.2:p.Ser1447GlyfsTer13
ENST00000439117.6:c.*3706_*3707insGGGCGACGAG ENSP00000406980.2:n.*3706_*3707insGGGCGAC...
ENST00000439673.6:c.4230_4231insGGGCGACGAG ENSP00000399232.2:p.Ser1411GlyfsTer13
ENST00000497886.5:n.2297_2298insGGGCGACGAG
ENST00000568454.5:c.4371_4372insGGGCGACGAG ENSP00000454487.1:p.Ser1458GlyfsTer13
ENST00000569110.1:c.721_722insGGGCGACGAG
ENST00000569930.1:n.1654_1655insGGGCGACGAG
NM_000548.3:c.4539_4540insGGGCGACGAG , LRG_487t1:c.4539_4540insGGGCGACGAG NP_000539.2:p.Ser1514GlyfsTer13
NM_001077183.1:c.4338_4339insGGGCGACGAG NP_001070651.1:p.Ser1447GlyfsTer13
NM_001114382.1:c.4470_4471insGGGCGACGAG NP_001107854.1:p.Ser1491GlyfsTer13
XM_005255529.3:c.4410_4411insGGGCGACGAG XP_005255586.2:p.Ser1471GlyfsTer13
XM_005255531.3:c.4341_4342insGGGCGACGAG XP_005255588.2:p.Ser1448GlyfsTer13
XM_011522636.1:c.4593_4594insGGGCGACGAG XP_011520938.1:p.Ser1532GlyfsTer13
XM_011522637.1:c.4590_4591insGGGCGACGAG XP_011520939.1:p.Ser1531GlyfsTer13
XM_011522638.1:c.4482_4483insGGGCGACGAG XP_011520940.1:p.Ser1495GlyfsTer13
XM_011522639.1:c.4464_4465insGGGCGACGAG XP_011520941.1:p.Ser1489GlyfsTer13
XM_011522640.1:c.4461_4462insGGGCGACGAG XP_011520942.1:p.Ser1488GlyfsTer13
XM_011522641.1:c.4230_4231insGGGCGACGAG XP_011520943.1:p.Ser1411GlyfsTer13
NM_000548.4:c.4539_4540insGGGCGACGAG NP_000539.2:p.Ser1514GlyfsTer13
NM_001077183.2:c.4338_4339insGGGCGACGAG NP_001070651.1:p.Ser1447GlyfsTer13
NM_001114382.2:c.4470_4471insGGGCGACGAG NP_001107854.1:p.Ser1491GlyfsTer13
NM_001318827.1:c.4230_4231insGGGCGACGAG NP_001305756.1:p.Ser1411GlyfsTer13
NM_001318829.1:c.4194_4195insGGGCGACGAG NP_001305758.1:p.Ser1399GlyfsTer13
NM_001318831.1:c.3807_3808insGGGCGACGAG NP_001305760.1:p.Ser1270GlyfsTer13
NM_001318832.1:c.4371_4372insGGGCGACGAG NP_001305761.1:p.Ser1458GlyfsTer13
NM_001363528.1:c.4341_4342insGGGCGACGAG NP_001350457.1:p.Ser1448GlyfsTer13
NM_021055.2:c.4410_4411insGGGCGACGAG NP_066399.2:p.Ser1471GlyfsTer13
XM_005255531.4:c.4341_4342insGGGCGACGAG XP_005255588.2:p.Ser1448GlyfsTer13
XM_011522636.2:c.4593_4594insGGGCGACGAG XP_011520938.1:p.Ser1532GlyfsTer13
XM_011522637.2:c.4590_4591insGGGCGACGAG XP_011520939.1:p.Ser1531GlyfsTer13
XM_011522638.2:c.4755_4756insGGGCGACGAG XP_011520940.2:p.Ser1586GlyfsTer13
XM_011522639.2:c.4464_4465insGGGCGACGAG XP_011520941.1:p.Ser1489GlyfsTer13
XM_011522640.2:c.4461_4462insGGGCGACGAG XP_011520942.1:p.Ser1488GlyfsTer13
XM_017023615.1:c.4536_4537insGGGCGACGAG XP_016879104.1:p.Ser1513GlyfsTer13
XM_017023616.1:c.4407_4408insGGGCGACGAG XP_016879105.1:p.Ser1470GlyfsTer13
XM_017023617.1:c.4503_4504insGGGCGACGAG XP_016879106.1:p.Ser1502GlyfsTer13
XM_017023618.1:c.3249_3250insGGGCGACGAG XP_016879107.1:p.Ser1084GlyfsTer13
XM_024450413.1:c.4338_4339insGGGCGACGAG XP_024306181.1:p.Ser1447GlyfsTer13
NM_000548.5:c.4539_4540insGGGCGACGAG MANE Select NP_000539.2:p.Ser1514GlyfsTer13
NM_001370404.1:c.4407_4408insGGGCGACGAG NP_001357333.1:p.Ser1470GlyfsTer13
NM_001370405.1:c.4410_4411insGGGCGACGAG NP_001357334.1:p.Ser1471GlyfsTer13
NM_001077183.3:c.4338_4339insGGGCGACGAG NP_001070651.1:p.Ser1447GlyfsTer13
NM_001114382.3:c.4470_4471insGGGCGACGAG NP_001107854.1:p.Ser1491GlyfsTer13
NM_001318827.2:c.4230_4231insGGGCGACGAG NP_001305756.1:p.Ser1411GlyfsTer13
NM_001318829.2:c.4194_4195insGGGCGACGAG NP_001305758.1:p.Ser1399GlyfsTer13
NM_001318831.2:c.3807_3808insGGGCGACGAG NP_001305760.1:p.Ser1270GlyfsTer13
NM_001318832.2:c.4371_4372insGGGCGACGAG NP_001305761.1:p.Ser1458GlyfsTer13
NM_001363528.2:c.4341_4342insGGGCGACGAG NP_001350457.1:p.Ser1448GlyfsTer13
NM_021055.3:c.4410_4411insGGGCGACGAG NP_066399.2:p.Ser1471GlyfsTer13