Canonical Allele Identifier: CA021019
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64857
dbSNP Id: rs397514888

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086343C>T , CM000678.2:g.2086343C>T GRCh38
NC_000016.9:g.2136344C>T , CM000678.1:g.2136344C>T GRCh37
NC_000016.8:g.2076345C>T NCBI36
NG_005895.1:g.42038C>T , LRG_487:g.42038C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3162C>T ENSP00000455997.2:n.*3162C>T
ENST00000642206.2:c.4660C>T ENSP00000495146.2:p.Gln1554Ter
ENST00000642365.2:c.4810C>T ENSP00000495459.2:p.Gln1604Ter
ENST00000644417.2:c.*5326C>T ENSP00000493912.2:n.*5326C>T
ENST00000646464.2:c.*7562C>T ENSP00000496610.2:n.*7562C>T
ENST00000219476.9:c.4813C>T MANE Select ENSP00000219476.3:p.Gln1605Ter
ENST00000350773.9:c.4744C>T ENSP00000344383.4:p.Gln1582Ter
ENST00000401874.7:c.4612C>T ENSP00000384468.2:p.Gln1538Ter
ENST00000568454.6:c.4645C>T ENSP00000454487.1:p.Gln1549Ter
ENST00000569110.2:c.1036C>T
ENST00000569930.2:n.2695C>T
ENST00000642365.1:c.3467C>T
ENST00000642561.1:c.4684C>T ENSP00000495099.1:p.Gln1562Ter
ENST00000642728.1:n.995C>T
ENST00000642791.1:n.410C>T
ENST00000642797.1:c.4615C>T ENSP00000493846.1:p.Gln1539Ter
ENST00000642936.1:c.4681C>T ENSP00000494514.1:p.Gln1561Ter
ENST00000643088.1:c.4606C>T ENSP00000494747.1:p.Gln1536Ter
ENST00000643177.1:n.827C>T
ENST00000643426.1:n.2461C>T
ENST00000643946.1:c.4738C>T ENSP00000495927.1:p.Gln1580Ter
ENST00000644043.1:c.4684C>T ENSP00000496262.1:p.Gln1562Ter
ENST00000644278.1:n.295C>T
ENST00000644329.1:c.4612C>T ENSP00000496611.1:p.Gln1538Ter
ENST00000644335.1:c.4609C>T ENSP00000496317.1:p.Gln1537Ter
ENST00000644399.1:c.4734C>T
ENST00000645024.1:n.2897C>T
ENST00000646388.1:c.4807C>T ENSP00000495921.1:p.Gln1603Ter
ENST00000646634.1:n.3628C>T
ENST00000646674.1:n.2065C>T
ENST00000647042.1:n.2036C>T
ENST00000647180.1:n.1926C>T
ENST00000219476.7:c.4813C>T ENSP00000219476.3:p.Gln1605Ter
ENST00000350773.8:c.4744C>T ENSP00000344383.4:p.Gln1582Ter
ENST00000382538.10:c.4468C>T ENSP00000371978.6:p.Gln1490Ter
ENST00000401874.6:c.4612C>T ENSP00000384468.2:p.Gln1538Ter
ENST00000439117.6:c.*3980C>T ENSP00000406980.2:n.*3980C>T
ENST00000439673.6:c.4504C>T ENSP00000399232.2:p.Gln1502Ter
ENST00000497886.5:n.2571C>T
ENST00000568454.5:c.4645C>T ENSP00000454487.1:p.Gln1549Ter
ENST00000569110.1:c.995C>T
ENST00000569930.1:n.1928C>T
NM_000548.3:c.4813C>T , LRG_487t1:c.4813C>T NP_000539.2:p.Gln1605Ter
NM_001077183.1:c.4612C>T NP_001070651.1:p.Gln1538Ter
NM_001114382.1:c.4744C>T NP_001107854.1:p.Gln1582Ter
XM_005255529.3:c.4684C>T XP_005255586.2:p.Gln1562Ter
XM_005255531.3:c.4615C>T XP_005255588.2:p.Gln1539Ter
XM_011522636.1:c.4867C>T XP_011520938.1:p.Gln1623Ter
XM_011522637.1:c.4864C>T XP_011520939.1:p.Gln1622Ter
XM_011522638.1:c.4756C>T XP_011520940.1:p.Gln1586Ter
XM_011522639.1:c.4738C>T XP_011520941.1:p.Gln1580Ter
XM_011522640.1:c.4735C>T XP_011520942.1:p.Gln1579Ter
XM_011522641.1:c.4504C>T XP_011520943.1:p.Gln1502Ter
NM_000548.4:c.4813C>T NP_000539.2:p.Gln1605Ter
NM_001077183.2:c.4612C>T NP_001070651.1:p.Gln1538Ter
NM_001114382.2:c.4744C>T NP_001107854.1:p.Gln1582Ter
NM_001318827.1:c.4504C>T NP_001305756.1:p.Gln1502Ter
NM_001318829.1:c.4468C>T NP_001305758.1:p.Gln1490Ter
NM_001318831.1:c.4081C>T NP_001305760.1:p.Gln1361Ter
NM_001318832.1:c.4645C>T NP_001305761.1:p.Gln1549Ter
NM_001363528.1:c.4615C>T NP_001350457.1:p.Gln1539Ter
NM_021055.2:c.4684C>T NP_066399.2:p.Gln1562Ter
XM_005255531.4:c.4615C>T XP_005255588.2:p.Gln1539Ter
XM_011522636.2:c.4867C>T XP_011520938.1:p.Gln1623Ter
XM_011522637.2:c.4864C>T XP_011520939.1:p.Gln1622Ter
XM_011522638.2:c.5029C>T XP_011520940.2:p.Gln1677Ter
XM_011522639.2:c.4738C>T XP_011520941.1:p.Gln1580Ter
XM_011522640.2:c.4735C>T XP_011520942.1:p.Gln1579Ter
XM_017023615.1:c.4810C>T XP_016879104.1:p.Gln1604Ter
XM_017023616.1:c.4681C>T XP_016879105.1:p.Gln1561Ter
XM_017023617.1:c.4777C>T XP_016879106.1:p.Gln1593Ter
XM_017023618.1:c.3523C>T XP_016879107.1:p.Gln1175Ter
XM_024450413.1:c.4612C>T XP_024306181.1:p.Gln1538Ter
NM_000548.5:c.4813C>T MANE Select NP_000539.2:p.Gln1605Ter
NM_001370404.1:c.4681C>T NP_001357333.1:p.Gln1561Ter
NM_001370405.1:c.4684C>T NP_001357334.1:p.Gln1562Ter
NM_001077183.3:c.4612C>T NP_001070651.1:p.Gln1538Ter
NM_001114382.3:c.4744C>T NP_001107854.1:p.Gln1582Ter
NM_001318827.2:c.4504C>T NP_001305756.1:p.Gln1502Ter
NM_001318829.2:c.4468C>T NP_001305758.1:p.Gln1490Ter
NM_001318831.2:c.4081C>T NP_001305760.1:p.Gln1361Ter
NM_001318832.2:c.4645C>T NP_001305761.1:p.Gln1549Ter
NM_001363528.2:c.4615C>T NP_001350457.1:p.Gln1539Ter
NM_021055.3:c.4684C>T NP_066399.2:p.Gln1562Ter