Canonical Allele Identifier: CA394297796
Community Standard Title: NM_000548.5(TSC2):c.3999C>A (p.Tyr1333Ter)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083810C>A , CM000678.2:g.2083810C>A GRCh38
NC_000016.9:g.2133811C>A , CM000678.1:g.2133811C>A GRCh37
NC_000016.8:g.2073812C>A NCBI36
NG_005895.1:g.39505C>A , LRG_487:g.39505C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3999C>A MANE Select NP_000539.2:p.Tyr1333Ter
ENST00000219476.9:c.3999C>A MANE Select ENSP00000219476.3:p.Tyr1333Ter
NM_000548.3:c.3999C>A , LRG_487t1:c.3999C>A NP_000539.2:p.Tyr1333Ter
NM_000548.4:c.3999C>A NP_000539.2:p.Tyr1333Ter
NM_001077183.1:c.3798C>A NP_001070651.1:p.Tyr1266Ter
NM_001077183.2:c.3798C>A NP_001070651.1:p.Tyr1266Ter
NM_001077183.3:c.3798C>A NP_001070651.1:p.Tyr1266Ter
NM_001114382.1:c.3930C>A NP_001107854.1:p.Tyr1310Ter
NM_001114382.2:c.3930C>A NP_001107854.1:p.Tyr1310Ter
NM_001114382.3:c.3930C>A NP_001107854.1:p.Tyr1310Ter
NM_001318827.1:c.3690C>A NP_001305756.1:p.Tyr1230Ter
NM_001318827.2:c.3690C>A NP_001305756.1:p.Tyr1230Ter
NM_001318829.1:c.3654C>A NP_001305758.1:p.Tyr1218Ter
NM_001318829.2:c.3654C>A NP_001305758.1:p.Tyr1218Ter
NM_001318831.1:c.3267C>A NP_001305760.1:p.Tyr1089Ter
NM_001318831.2:c.3267C>A NP_001305760.1:p.Tyr1089Ter
NM_001318832.1:c.3831C>A NP_001305761.1:p.Tyr1277Ter
NM_001318832.2:c.3831C>A NP_001305761.1:p.Tyr1277Ter
NM_001363528.1:c.3801C>A NP_001350457.1:p.Tyr1267Ter
NM_001363528.2:c.3801C>A NP_001350457.1:p.Tyr1267Ter
NM_001370404.1:c.3867C>A NP_001357333.1:p.Tyr1289Ter
NM_001370405.1:c.3870C>A NP_001357334.1:p.Tyr1290Ter
NM_021055.2:c.3870C>A NP_066399.2:p.Tyr1290Ter
NM_021055.3:c.3870C>A NP_066399.2:p.Tyr1290Ter
ENST00000219476.7:c.3999C>A ENSP00000219476.3:p.Tyr1333Ter
ENST00000350773.8:c.3930C>A ENSP00000344383.4:p.Tyr1310Ter
ENST00000350773.9:c.3930C>A ENSP00000344383.4:p.Tyr1310Ter
ENST00000382538.10:c.3654C>A ENSP00000371978.6:p.Tyr1218Ter
ENST00000401874.6:c.3798C>A ENSP00000384468.2:p.Tyr1266Ter
ENST00000401874.7:c.3798C>A ENSP00000384468.2:p.Tyr1266Ter
ENST00000439117.6:c.*3166C>A ENSP00000406980.2:n.*3166C>A
ENST00000439673.6:c.3690C>A ENSP00000399232.2:p.Tyr1230Ter
ENST00000497886.5:n.1757C>A
ENST00000568454.5:c.3831C>A ENSP00000454487.1:p.Tyr1277Ter
ENST00000568454.6:c.3831C>A ENSP00000454487.1:p.Tyr1277Ter
ENST00000568566.6:c.*2348C>A ENSP00000455997.2:n.*2348C>A
ENST00000569110.1:c.181C>A
ENST00000569110.2:c.235C>A
ENST00000569930.1:n.1114C>A
ENST00000569930.2:n.1881C>A
ENST00000642206.2:c.3846C>A ENSP00000495146.2:p.Tyr1282Ter
ENST00000642365.1:c.2653C>A
ENST00000642365.2:c.3996C>A ENSP00000495459.2:p.Tyr1332Ter
ENST00000642561.1:c.3870C>A ENSP00000495099.1:p.Tyr1290Ter
ENST00000642728.1:n.181C>A
ENST00000642797.1:c.3801C>A ENSP00000493846.1:p.Tyr1267Ter
ENST00000642936.1:c.3867C>A ENSP00000494514.1:p.Tyr1289Ter
ENST00000643088.1:c.3798C>A ENSP00000494747.1:p.Tyr1266Ter
ENST00000643177.1:n.13C>A
ENST00000643426.1:n.1647C>A
ENST00000643533.1:n.440C>A
ENST00000643946.1:c.3930C>A ENSP00000495927.1:p.Tyr1310Ter
ENST00000644043.1:c.3870C>A ENSP00000496262.1:p.Tyr1290Ter
ENST00000644329.1:c.3798C>A ENSP00000496611.1:p.Tyr1266Ter
ENST00000644335.1:c.3801C>A ENSP00000496317.1:p.Tyr1267Ter
ENST00000644399.1:c.3920C>A
ENST00000644417.2:c.*4379C>A ENSP00000493912.2:n.*4379C>A
ENST00000645024.1:n.2083C>A
ENST00000645186.1:c.242C>A
ENST00000646388.1:c.3999C>A ENSP00000495921.1:p.Tyr1333Ter
ENST00000646464.2:c.*6748C>A ENSP00000496610.2:n.*6748C>A
ENST00000646634.1:n.2814C>A
ENST00000646674.1:n.1251C>A
ENST00000647042.1:n.1222C>A
ENST00000647180.1:n.1112C>A
XM_005255529.3:c.3870C>A XP_005255586.2:p.Tyr1290Ter
XM_005255531.3:c.3801C>A XP_005255588.2:p.Tyr1267Ter
XM_005255531.4:c.3801C>A XP_005255588.2:p.Tyr1267Ter
XM_011522636.1:c.4053C>A XP_011520938.1:p.Tyr1351Ter
XM_011522636.2:c.4053C>A XP_011520938.1:p.Tyr1351Ter
XM_011522637.1:c.4050C>A XP_011520939.1:p.Tyr1350Ter
XM_011522637.2:c.4050C>A XP_011520939.1:p.Tyr1350Ter
XM_011522638.1:c.3942C>A XP_011520940.1:p.Tyr1314Ter
XM_011522638.2:c.4215C>A XP_011520940.2:p.Tyr1405Ter
XM_011522639.1:c.3924C>A XP_011520941.1:p.Tyr1308Ter
XM_011522639.2:c.3924C>A XP_011520941.1:p.Tyr1308Ter
XM_011522640.1:c.3921C>A XP_011520942.1:p.Tyr1307Ter
XM_011522640.2:c.3921C>A XP_011520942.1:p.Tyr1307Ter
XM_011522641.1:c.3690C>A XP_011520943.1:p.Tyr1230Ter
XM_017023615.1:c.3996C>A XP_016879104.1:p.Tyr1332Ter
XM_017023616.1:c.3867C>A XP_016879105.1:p.Tyr1289Ter
XM_017023617.1:c.3963C>A XP_016879106.1:p.Tyr1321Ter
XM_017023618.1:c.2709C>A XP_016879107.1:p.Tyr903Ter
XM_024450413.1:c.3798C>A XP_024306181.1:p.Tyr1266Ter