Canonical Allele Identifier: CA394297507
Community Standard Title: NM_000548.5(TSC2):c.3967G>A (p.Ala1323Thr)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083778G>A , CM000678.2:g.2083778G>A GRCh38
NC_000016.9:g.2133779G>A , CM000678.1:g.2133779G>A GRCh37
NC_000016.8:g.2073780G>A NCBI36
NG_005895.1:g.39473G>A , LRG_487:g.39473G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3967G>A MANE Select NP_000539.2:p.Ala1323Thr
ENST00000219476.9:c.3967G>A MANE Select ENSP00000219476.3:p.Ala1323Thr
NM_000548.3:c.3967G>A , LRG_487t1:c.3967G>A NP_000539.2:p.Ala1323Thr
NM_000548.4:c.3967G>A NP_000539.2:p.Ala1323Thr
NM_001077183.1:c.3766G>A NP_001070651.1:p.Ala1256Thr
NM_001077183.2:c.3766G>A NP_001070651.1:p.Ala1256Thr
NM_001077183.3:c.3766G>A NP_001070651.1:p.Ala1256Thr
NM_001114382.1:c.3898G>A NP_001107854.1:p.Ala1300Thr
NM_001114382.2:c.3898G>A NP_001107854.1:p.Ala1300Thr
NM_001114382.3:c.3898G>A NP_001107854.1:p.Ala1300Thr
NM_001318827.1:c.3658G>A NP_001305756.1:p.Ala1220Thr
NM_001318827.2:c.3658G>A NP_001305756.1:p.Ala1220Thr
NM_001318829.1:c.3622G>A NP_001305758.1:p.Ala1208Thr
NM_001318829.2:c.3622G>A NP_001305758.1:p.Ala1208Thr
NM_001318831.1:c.3235G>A NP_001305760.1:p.Ala1079Thr
NM_001318831.2:c.3235G>A NP_001305760.1:p.Ala1079Thr
NM_001318832.1:c.3799G>A NP_001305761.1:p.Ala1267Thr
NM_001318832.2:c.3799G>A NP_001305761.1:p.Ala1267Thr
NM_001363528.1:c.3769G>A NP_001350457.1:p.Ala1257Thr
NM_001363528.2:c.3769G>A NP_001350457.1:p.Ala1257Thr
NM_001370404.1:c.3835G>A NP_001357333.1:p.Ala1279Thr
NM_001370405.1:c.3838G>A NP_001357334.1:p.Ala1280Thr
NM_021055.2:c.3838G>A NP_066399.2:p.Ala1280Thr
NM_021055.3:c.3838G>A NP_066399.2:p.Ala1280Thr
ENST00000219476.7:c.3967G>A ENSP00000219476.3:p.Ala1323Thr
ENST00000350773.8:c.3898G>A ENSP00000344383.4:p.Ala1300Thr
ENST00000350773.9:c.3898G>A ENSP00000344383.4:p.Ala1300Thr
ENST00000382538.10:c.3622G>A ENSP00000371978.6:p.Ala1208Thr
ENST00000401874.6:c.3766G>A ENSP00000384468.2:p.Ala1256Thr
ENST00000401874.7:c.3766G>A ENSP00000384468.2:p.Ala1256Thr
ENST00000439117.6:c.*3134G>A ENSP00000406980.2:n.*3134G>A
ENST00000439673.6:c.3658G>A ENSP00000399232.2:p.Ala1220Thr
ENST00000497886.5:n.1725G>A
ENST00000568454.5:c.3799G>A ENSP00000454487.1:p.Ala1267Thr
ENST00000568454.6:c.3799G>A ENSP00000454487.1:p.Ala1267Thr
ENST00000568566.6:c.*2316G>A ENSP00000455997.2:n.*2316G>A
ENST00000569110.1:c.149G>A
ENST00000569110.2:c.203G>A
ENST00000569930.1:n.1082G>A
ENST00000569930.2:n.1849G>A
ENST00000642206.2:c.3814G>A ENSP00000495146.2:p.Ala1272Thr
ENST00000642365.1:c.2621G>A
ENST00000642365.2:c.3964G>A ENSP00000495459.2:p.Ala1322Thr
ENST00000642561.1:c.3838G>A ENSP00000495099.1:p.Ala1280Thr
ENST00000642728.1:n.149G>A
ENST00000642797.1:c.3769G>A ENSP00000493846.1:p.Ala1257Thr
ENST00000642936.1:c.3835G>A ENSP00000494514.1:p.Ala1279Thr
ENST00000643088.1:c.3766G>A ENSP00000494747.1:p.Ala1256Thr
ENST00000643426.1:n.1615G>A
ENST00000643533.1:n.408G>A
ENST00000643946.1:c.3898G>A ENSP00000495927.1:p.Ala1300Thr
ENST00000644043.1:c.3838G>A ENSP00000496262.1:p.Ala1280Thr
ENST00000644329.1:c.3766G>A ENSP00000496611.1:p.Ala1256Thr
ENST00000644335.1:c.3769G>A ENSP00000496317.1:p.Ala1257Thr
ENST00000644399.1:c.3888G>A
ENST00000644417.2:c.*4347G>A ENSP00000493912.2:n.*4347G>A
ENST00000645024.1:n.2051G>A
ENST00000645186.1:c.210G>A
ENST00000646388.1:c.3967G>A ENSP00000495921.1:p.Ala1323Thr
ENST00000646464.2:c.*6716G>A ENSP00000496610.2:n.*6716G>A
ENST00000646634.1:n.2782G>A
ENST00000646674.1:n.1219G>A
ENST00000647042.1:n.1190G>A
ENST00000647180.1:n.1080G>A
XM_005255529.3:c.3838G>A XP_005255586.2:p.Ala1280Thr
XM_005255531.3:c.3769G>A XP_005255588.2:p.Ala1257Thr
XM_005255531.4:c.3769G>A XP_005255588.2:p.Ala1257Thr
XM_011522636.1:c.4021G>A XP_011520938.1:p.Ala1341Thr
XM_011522636.2:c.4021G>A XP_011520938.1:p.Ala1341Thr
XM_011522637.1:c.4018G>A XP_011520939.1:p.Ala1340Thr
XM_011522637.2:c.4018G>A XP_011520939.1:p.Ala1340Thr
XM_011522638.1:c.3910G>A XP_011520940.1:p.Ala1304Thr
XM_011522638.2:c.4183G>A XP_011520940.2:p.Ala1395Thr
XM_011522639.1:c.3892G>A XP_011520941.1:p.Ala1298Thr
XM_011522639.2:c.3892G>A XP_011520941.1:p.Ala1298Thr
XM_011522640.1:c.3889G>A XP_011520942.1:p.Ala1297Thr
XM_011522640.2:c.3889G>A XP_011520942.1:p.Ala1297Thr
XM_011522641.1:c.3658G>A XP_011520943.1:p.Ala1220Thr
XM_017023615.1:c.3964G>A XP_016879104.1:p.Ala1322Thr
XM_017023616.1:c.3835G>A XP_016879105.1:p.Ala1279Thr
XM_017023617.1:c.3931G>A XP_016879106.1:p.Ala1311Thr
XM_017023618.1:c.2677G>A XP_016879107.1:p.Ala893Thr
XM_024450413.1:c.3766G>A XP_024306181.1:p.Ala1256Thr