Canonical Allele Identifier: CA493043452
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084551T>G , CM000678.2:g.2084551T>G GRCh38
NC_000016.9:g.2134552T>G , CM000678.1:g.2134552T>G GRCh37
NC_000016.8:g.2074553T>G NCBI36
NG_005895.1:g.40246T>G , LRG_487:g.40246T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2678T>G ENSP00000455997.2:n.*2678T>G
ENST00000642206.2:c.4176T>G ENSP00000495146.2:p.Gly1392=
ENST00000642365.2:c.4326T>G ENSP00000495459.2:p.Gly1442=
ENST00000644417.2:c.*4709T>G ENSP00000493912.2:n.*4709T>G
ENST00000646464.2:c.*7078T>G ENSP00000496610.2:n.*7078T>G
ENST00000219476.9:c.4329T>G MANE Select ENSP00000219476.3:p.Gly1443=
ENST00000350773.9:c.4260T>G ENSP00000344383.4:p.Gly1420=
ENST00000401874.7:c.4128T>G ENSP00000384468.2:p.Gly1376=
ENST00000568454.6:c.4161T>G ENSP00000454487.1:p.Gly1387=
ENST00000569110.2:c.565T>G
ENST00000569930.2:n.2211T>G
ENST00000642365.1:c.2983T>G
ENST00000642561.1:c.4200T>G ENSP00000495099.1:p.Gly1400=
ENST00000642728.1:n.511T>G
ENST00000642797.1:c.4131T>G ENSP00000493846.1:p.Gly1377=
ENST00000642936.1:c.4197T>G ENSP00000494514.1:p.Gly1399=
ENST00000643088.1:c.4128T>G ENSP00000494747.1:p.Gly1376=
ENST00000643177.1:n.343T>G
ENST00000643426.1:n.1977T>G
ENST00000643946.1:c.4260T>G ENSP00000495927.1:p.Gly1420=
ENST00000644043.1:c.4200T>G ENSP00000496262.1:p.Gly1400=
ENST00000644329.1:c.4128T>G ENSP00000496611.1:p.Gly1376=
ENST00000644335.1:c.4131T>G ENSP00000496317.1:p.Gly1377=
ENST00000644399.1:c.4250T>G
ENST00000645024.1:n.2413T>G
ENST00000646388.1:c.4329T>G ENSP00000495921.1:p.Gly1443=
ENST00000646634.1:n.3144T>G
ENST00000646674.1:n.1581T>G
ENST00000647042.1:n.1552T>G
ENST00000647180.1:n.1442T>G
ENST00000219476.7:c.4329T>G ENSP00000219476.3:p.Gly1443=
ENST00000350773.8:c.4260T>G ENSP00000344383.4:p.Gly1420=
ENST00000382538.10:c.3984T>G ENSP00000371978.6:p.Gly1328=
ENST00000401874.6:c.4128T>G ENSP00000384468.2:p.Gly1376=
ENST00000439117.6:c.*3496T>G ENSP00000406980.2:n.*3496T>G
ENST00000439673.6:c.4020T>G ENSP00000399232.2:p.Gly1340=
ENST00000497886.5:n.2087T>G
ENST00000568454.5:c.4161T>G ENSP00000454487.1:p.Gly1387=
ENST00000569110.1:c.511T>G
ENST00000569930.1:n.1444T>G
NM_000548.3:c.4329T>G , LRG_487t1:c.4329T>G NP_000539.2:p.Gly1443=
NM_001077183.1:c.4128T>G NP_001070651.1:p.Gly1376=
NM_001114382.1:c.4260T>G NP_001107854.1:p.Gly1420=
XM_005255529.3:c.4200T>G XP_005255586.2:p.Gly1400=
XM_005255531.3:c.4131T>G XP_005255588.2:p.Gly1377=
XM_011522636.1:c.4383T>G XP_011520938.1:p.Gly1461=
XM_011522637.1:c.4380T>G XP_011520939.1:p.Gly1460=
XM_011522638.1:c.4272T>G XP_011520940.1:p.Gly1424=
XM_011522639.1:c.4254T>G XP_011520941.1:p.Gly1418=
XM_011522640.1:c.4251T>G XP_011520942.1:p.Gly1417=
XM_011522641.1:c.4020T>G XP_011520943.1:p.Gly1340=
NM_000548.4:c.4329T>G NP_000539.2:p.Gly1443=
NM_001077183.2:c.4128T>G NP_001070651.1:p.Gly1376=
NM_001114382.2:c.4260T>G NP_001107854.1:p.Gly1420=
NM_001318827.1:c.4020T>G NP_001305756.1:p.Gly1340=
NM_001318829.1:c.3984T>G NP_001305758.1:p.Gly1328=
NM_001318831.1:c.3597T>G NP_001305760.1:p.Gly1199=
NM_001318832.1:c.4161T>G NP_001305761.1:p.Gly1387=
NM_001363528.1:c.4131T>G NP_001350457.1:p.Gly1377=
NM_021055.2:c.4200T>G NP_066399.2:p.Gly1400=
XM_005255531.4:c.4131T>G XP_005255588.2:p.Gly1377=
XM_011522636.2:c.4383T>G XP_011520938.1:p.Gly1461=
XM_011522637.2:c.4380T>G XP_011520939.1:p.Gly1460=
XM_011522638.2:c.4545T>G XP_011520940.2:p.Gly1515=
XM_011522639.2:c.4254T>G XP_011520941.1:p.Gly1418=
XM_011522640.2:c.4251T>G XP_011520942.1:p.Gly1417=
XM_017023615.1:c.4326T>G XP_016879104.1:p.Gly1442=
XM_017023616.1:c.4197T>G XP_016879105.1:p.Gly1399=
XM_017023617.1:c.4293T>G XP_016879106.1:p.Gly1431=
XM_017023618.1:c.3039T>G XP_016879107.1:p.Gly1013=
XM_024450413.1:c.4128T>G XP_024306181.1:p.Gly1376=
NM_000548.5:c.4329T>G MANE Select NP_000539.2:p.Gly1443=
NM_001370404.1:c.4197T>G NP_001357333.1:p.Gly1399=
NM_001370405.1:c.4200T>G NP_001357334.1:p.Gly1400=
NM_001077183.3:c.4128T>G NP_001070651.1:p.Gly1376=
NM_001114382.3:c.4260T>G NP_001107854.1:p.Gly1420=
NM_001318827.2:c.4020T>G NP_001305756.1:p.Gly1340=
NM_001318829.2:c.3984T>G NP_001305758.1:p.Gly1328=
NM_001318831.2:c.3597T>G NP_001305760.1:p.Gly1199=
NM_001318832.2:c.4161T>G NP_001305761.1:p.Gly1387=
NM_001363528.2:c.4131T>G NP_001350457.1:p.Gly1377=
NM_021055.3:c.4200T>G NP_066399.2:p.Gly1400=