Canonical Allele Identifier: CA053177
Community Standard Title: NM_000548.5(TSC2):c.4982C>T (p.Thr1661Ile)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086864C>T , CM000678.2:g.2086864C>T GRCh38
NC_000016.9:g.2136865C>T , CM000678.1:g.2136865C>T GRCh37
NC_000016.8:g.2076866C>T NCBI36
NG_005895.1:g.42559C>T , LRG_487:g.42559C>T
NG_008617.1:g.56357G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4982C>T MANE Select NP_000539.2:p.Thr1661Ile
ENST00000219476.9:c.4982C>T MANE Select ENSP00000219476.3:p.Thr1661Ile
NM_000548.3:c.4982C>T , LRG_487t1:c.4982C>T NP_000539.2:p.Thr1661Ile
NM_000548.4:c.4982C>T NP_000539.2:p.Thr1661Ile
NM_001077183.1:c.4781C>T NP_001070651.1:p.Thr1594Ile
NM_001077183.2:c.4781C>T NP_001070651.1:p.Thr1594Ile
NM_001077183.3:c.4781C>T NP_001070651.1:p.Thr1594Ile
NM_001114382.1:c.4913C>T NP_001107854.1:p.Thr1638Ile
NM_001114382.2:c.4913C>T NP_001107854.1:p.Thr1638Ile
NM_001114382.3:c.4913C>T NP_001107854.1:p.Thr1638Ile
NM_001318827.1:c.4673C>T NP_001305756.1:p.Thr1558Ile
NM_001318827.2:c.4673C>T NP_001305756.1:p.Thr1558Ile
NM_001318829.1:c.4637C>T NP_001305758.1:p.Thr1546Ile
NM_001318829.2:c.4637C>T NP_001305758.1:p.Thr1546Ile
NM_001318831.1:c.4250C>T NP_001305760.1:p.Thr1417Ile
NM_001318831.2:c.4250C>T NP_001305760.1:p.Thr1417Ile
NM_001318832.1:c.4814C>T NP_001305761.1:p.Thr1605Ile
NM_001318832.2:c.4814C>T NP_001305761.1:p.Thr1605Ile
NM_001363528.1:c.4784C>T NP_001350457.1:p.Thr1595Ile
NM_001363528.2:c.4784C>T NP_001350457.1:p.Thr1595Ile
NM_001370404.1:c.4850C>T NP_001357333.1:p.Thr1617Ile
NM_001370405.1:c.4853C>T NP_001357334.1:p.Thr1618Ile
NM_021055.2:c.4853C>T NP_066399.2:p.Thr1618Ile
NM_021055.3:c.4853C>T NP_066399.2:p.Thr1618Ile
ENST00000219476.7:c.4982C>T ENSP00000219476.3:p.Thr1661Ile
ENST00000350773.8:c.4913C>T ENSP00000344383.4:p.Thr1638Ile
ENST00000350773.9:c.4913C>T ENSP00000344383.4:p.Thr1638Ile
ENST00000382538.10:c.4637C>T ENSP00000371978.6:p.Thr1546Ile
ENST00000401874.6:c.4781C>T ENSP00000384468.2:p.Thr1594Ile
ENST00000401874.7:c.4781C>T ENSP00000384468.2:p.Thr1594Ile
ENST00000439117.6:c.*4149C>T ENSP00000406980.2:n.*4149C>T
ENST00000439673.6:c.4673C>T ENSP00000399232.2:p.Thr1558Ile
ENST00000497886.5:n.2705C>T
ENST00000568454.5:c.4814C>T ENSP00000454487.1:p.Thr1605Ile
ENST00000568454.6:c.4814C>T ENSP00000454487.1:p.Thr1605Ile
ENST00000568566.6:c.*3331C>T ENSP00000455997.2:n.*3331C>T
ENST00000569110.1:c.1164C>T
ENST00000569110.2:c.1205C>T
ENST00000569930.1:n.2097C>T
ENST00000569930.2:n.2864C>T
ENST00000642206.2:c.4829C>T ENSP00000495146.2:p.Thr1610Ile
ENST00000642365.1:c.3636C>T
ENST00000642365.2:c.4979C>T ENSP00000495459.2:p.Thr1660Ile
ENST00000642561.1:c.4853C>T ENSP00000495099.1:p.Thr1618Ile
ENST00000642728.1:n.1164C>T
ENST00000642791.1:n.579C>T
ENST00000642797.1:c.4784C>T ENSP00000493846.1:p.Thr1595Ile
ENST00000642936.1:c.4850C>T ENSP00000494514.1:p.Thr1617Ile
ENST00000643088.1:c.4775C>T ENSP00000494747.1:p.Thr1592Ile
ENST00000643177.1:n.996C>T
ENST00000643426.1:n.2630C>T
ENST00000643946.1:c.4907C>T ENSP00000495927.1:p.Thr1636Ile
ENST00000644043.1:c.4853C>T ENSP00000496262.1:p.Thr1618Ile
ENST00000644278.1:n.464C>T
ENST00000644329.1:c.4781C>T ENSP00000496611.1:p.Thr1594Ile
ENST00000644335.1:c.4778C>T ENSP00000496317.1:p.Thr1593Ile
ENST00000644399.1:c.4903C>T
ENST00000644417.2:c.*5495C>T ENSP00000493912.2:n.*5495C>T
ENST00000645024.1:n.3066C>T
ENST00000646388.1:c.4976C>T ENSP00000495921.1:p.Thr1659Ile
ENST00000646464.2:c.*7731C>T ENSP00000496610.2:n.*7731C>T
ENST00000646557.1:n.143C>T
ENST00000646634.1:n.3797C>T
ENST00000646674.1:n.2234C>T
ENST00000647042.1:n.2205C>T
ENST00000647180.1:n.2095C>T
XM_005255529.3:c.4853C>T XP_005255586.2:p.Thr1618Ile
XM_005255531.3:c.4784C>T XP_005255588.2:p.Thr1595Ile
XM_005255531.4:c.4784C>T XP_005255588.2:p.Thr1595Ile
XM_011522636.1:c.5036C>T XP_011520938.1:p.Thr1679Ile
XM_011522636.2:c.5036C>T XP_011520938.1:p.Thr1679Ile
XM_011522637.1:c.5033C>T XP_011520939.1:p.Thr1678Ile
XM_011522637.2:c.5033C>T XP_011520939.1:p.Thr1678Ile
XM_011522638.1:c.4925C>T XP_011520940.1:p.Thr1642Ile
XM_011522638.2:c.5198C>T XP_011520940.2:p.Thr1733Ile
XM_011522639.1:c.4907C>T XP_011520941.1:p.Thr1636Ile
XM_011522639.2:c.4907C>T XP_011520941.1:p.Thr1636Ile
XM_011522640.1:c.4904C>T XP_011520942.1:p.Thr1635Ile
XM_011522640.2:c.4904C>T XP_011520942.1:p.Thr1635Ile
XM_011522641.1:c.4673C>T XP_011520943.1:p.Thr1558Ile
XM_017023615.1:c.4979C>T XP_016879104.1:p.Thr1660Ile
XM_017023616.1:c.4850C>T XP_016879105.1:p.Thr1617Ile
XM_017023617.1:c.4946C>T XP_016879106.1:p.Thr1649Ile
XM_017023618.1:c.3692C>T XP_016879107.1:p.Thr1231Ile
XM_024450413.1:c.4781C>T XP_024306181.1:p.Thr1594Ile