Canonical Allele Identifier: CA718919571
Gene: TSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1467043390
MyVariant Identifiers: chr16:g.2135055_2135056insAT (hg19) chr16:g.2085054_2085055insAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085054_2085055insAT , CM000678.2:g.2085054_2085055insAT GRCh38
NC_000016.9:g.2135055_2135056insAT , CM000678.1:g.2135055_2135056insAT GRCh37
NC_000016.8:g.2075056_2075057insAT NCBI36
NG_005895.1:g.40749_40750insAT , LRG_487:g.40749_40750insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2918+28_*2918+29insAT ENSP00000455997.2:n.*2918+28_*2918+29insAT
ENST00000642206.2:c.4416+28_4416+29insAT ENSP00000495146.2:n.4416+28_4416+29insAT
ENST00000642365.2:c.4566+28_4566+29insAT ENSP00000495459.2:n.4566+28_4566+29insAT
ENST00000644417.2:c.*4949+28_*4949+29insAT ENSP00000493912.2:n.*4949+28_*4949+29insAT
ENST00000646464.2:c.*7318+28_*7318+29insAT ENSP00000496610.2:n.*7318+28_*7318+29insAT
ENST00000219476.9:c.4569+28_4569+29insAT MANE Select ENSP00000219476.3:n.4569+28_4569+29insAT
ENST00000350773.9:c.4500+28_4500+29insAT ENSP00000344383.4:n.4500+28_4500+29insAT
ENST00000401874.7:c.4368+28_4368+29insAT ENSP00000384468.2:n.4368+28_4368+29insAT
ENST00000568454.6:c.4401+28_4401+29insAT ENSP00000454487.1:n.4401+28_4401+29insAT
ENST00000569110.2:c.792+28_792+29insAT
ENST00000569930.2:n.2451+28_2451+29insAT
ENST00000642365.1:c.3223+28_3223+29insAT
ENST00000642561.1:c.4440+28_4440+29insAT ENSP00000495099.1:n.4440+28_4440+29insAT
ENST00000642728.1:n.751+28_751+29insAT
ENST00000642797.1:c.4371+28_4371+29insAT ENSP00000493846.1:n.4371+28_4371+29insAT
ENST00000642936.1:c.4437+28_4437+29insAT ENSP00000494514.1:n.4437+28_4437+29insAT
ENST00000643088.1:c.4368+28_4368+29insAT ENSP00000494747.1:n.4368+28_4368+29insAT
ENST00000643177.1:n.583+28_583+29insAT
ENST00000643426.1:n.2217+28_2217+29insAT
ENST00000643946.1:c.4500+28_4500+29insAT ENSP00000495927.1:n.4500+28_4500+29insAT
ENST00000644043.1:c.4440+28_4440+29insAT ENSP00000496262.1:n.4440+28_4440+29insAT
ENST00000644329.1:c.4368+28_4368+29insAT ENSP00000496611.1:n.4368+28_4368+29insAT
ENST00000644335.1:c.4371+28_4371+29insAT ENSP00000496317.1:n.4371+28_4371+29insAT
ENST00000644399.1:c.4490+28_4490+29insAT
ENST00000645024.1:n.2653+28_2653+29insAT
ENST00000646388.1:c.4569+28_4569+29insAT ENSP00000495921.1:n.4569+28_4569+29insAT
ENST00000646634.1:n.3384+28_3384+29insAT
ENST00000646674.1:n.1821+28_1821+29insAT
ENST00000647042.1:n.1792+28_1792+29insAT
ENST00000647180.1:n.1682+28_1682+29insAT
ENST00000219476.7:c.4569+28_4569+29insAT ENSP00000219476.3:n.4569+28_4569+29insAT
ENST00000350773.8:c.4500+28_4500+29insAT ENSP00000344383.4:n.4500+28_4500+29insAT
ENST00000382538.10:c.4224+28_4224+29insAT ENSP00000371978.6:n.4224+28_4224+29insAT
ENST00000401874.6:c.4368+28_4368+29insAT ENSP00000384468.2:n.4368+28_4368+29insAT
ENST00000439117.6:c.*3736+28_*3736+29insAT ENSP00000406980.2:n.*3736+28_*3736+29insAT
ENST00000439673.6:c.4260+28_4260+29insAT ENSP00000399232.2:n.4260+28_4260+29insAT
ENST00000497886.5:n.2327+28_2327+29insAT
ENST00000568454.5:c.4401+28_4401+29insAT ENSP00000454487.1:n.4401+28_4401+29insAT
ENST00000569110.1:c.751+28_751+29insAT
ENST00000569930.1:n.1684+28_1684+29insAT
NM_000548.3:c.4569+28_4569+29insAT , LRG_487t1:c.4569+28_4569+29insAT NP_000539.2:n.4569+28_4569+29insAT
NM_001077183.1:c.4368+28_4368+29insAT NP_001070651.1:n.4368+28_4368+29insAT
NM_001114382.1:c.4500+28_4500+29insAT NP_001107854.1:n.4500+28_4500+29insAT
XM_005255529.3:c.4440+28_4440+29insAT XP_005255586.2:n.4440+28_4440+29insAT
XM_005255531.3:c.4371+28_4371+29insAT XP_005255588.2:n.4371+28_4371+29insAT
XM_011522636.1:c.4623+28_4623+29insAT XP_011520938.1:n.4623+28_4623+29insAT
XM_011522637.1:c.4620+28_4620+29insAT XP_011520939.1:n.4620+28_4620+29insAT
XM_011522638.1:c.4512+28_4512+29insAT XP_011520940.1:n.4512+28_4512+29insAT
XM_011522639.1:c.4494+28_4494+29insAT XP_011520941.1:n.4494+28_4494+29insAT
XM_011522640.1:c.4491+28_4491+29insAT XP_011520942.1:n.4491+28_4491+29insAT
XM_011522641.1:c.4260+28_4260+29insAT XP_011520943.1:n.4260+28_4260+29insAT
NM_000548.4:c.4569+28_4569+29insAT NP_000539.2:n.4569+28_4569+29insAT
NM_001077183.2:c.4368+28_4368+29insAT NP_001070651.1:n.4368+28_4368+29insAT
NM_001114382.2:c.4500+28_4500+29insAT NP_001107854.1:n.4500+28_4500+29insAT
NM_001318827.1:c.4260+28_4260+29insAT NP_001305756.1:n.4260+28_4260+29insAT
NM_001318829.1:c.4224+28_4224+29insAT NP_001305758.1:n.4224+28_4224+29insAT
NM_001318831.1:c.3837+28_3837+29insAT NP_001305760.1:n.3837+28_3837+29insAT
NM_001318832.1:c.4401+28_4401+29insAT NP_001305761.1:n.4401+28_4401+29insAT
NM_001363528.1:c.4371+28_4371+29insAT NP_001350457.1:n.4371+28_4371+29insAT
NM_021055.2:c.4440+28_4440+29insAT NP_066399.2:n.4440+28_4440+29insAT
XM_005255531.4:c.4371+28_4371+29insAT XP_005255588.2:n.4371+28_4371+29insAT
XM_011522636.2:c.4623+28_4623+29insAT XP_011520938.1:n.4623+28_4623+29insAT
XM_011522637.2:c.4620+28_4620+29insAT XP_011520939.1:n.4620+28_4620+29insAT
XM_011522638.2:c.4785+28_4785+29insAT XP_011520940.2:n.4785+28_4785+29insAT
XM_011522639.2:c.4494+28_4494+29insAT XP_011520941.1:n.4494+28_4494+29insAT
XM_011522640.2:c.4491+28_4491+29insAT XP_011520942.1:n.4491+28_4491+29insAT
XM_017023615.1:c.4566+28_4566+29insAT XP_016879104.1:n.4566+28_4566+29insAT
XM_017023616.1:c.4437+28_4437+29insAT XP_016879105.1:n.4437+28_4437+29insAT
XM_017023617.1:c.4533+28_4533+29insAT XP_016879106.1:n.4533+28_4533+29insAT
XM_017023618.1:c.3279+28_3279+29insAT XP_016879107.1:n.3279+28_3279+29insAT
XM_024450413.1:c.4368+28_4368+29insAT XP_024306181.1:n.4368+28_4368+29insAT
NM_000548.5:c.4569+28_4569+29insAT MANE Select NP_000539.2:n.4569+28_4569+29insAT
NM_001370404.1:c.4437+28_4437+29insAT NP_001357333.1:n.4437+28_4437+29insAT
NM_001370405.1:c.4440+28_4440+29insAT NP_001357334.1:n.4440+28_4440+29insAT
NM_001077183.3:c.4368+28_4368+29insAT NP_001070651.1:n.4368+28_4368+29insAT
NM_001114382.3:c.4500+28_4500+29insAT NP_001107854.1:n.4500+28_4500+29insAT
NM_001318827.2:c.4260+28_4260+29insAT NP_001305756.1:n.4260+28_4260+29insAT
NM_001318829.2:c.4224+28_4224+29insAT NP_001305758.1:n.4224+28_4224+29insAT
NM_001318831.2:c.3837+28_3837+29insAT NP_001305760.1:n.3837+28_3837+29insAT
NM_001318832.2:c.4401+28_4401+29insAT NP_001305761.1:n.4401+28_4401+29insAT
NM_001363528.2:c.4371+28_4371+29insAT NP_001350457.1:n.4371+28_4371+29insAT
NM_021055.3:c.4440+28_4440+29insAT NP_066399.2:n.4440+28_4440+29insAT
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