Canonical Allele Identifier: CA049677
Community Standard Title: NM_000548.5(TSC2):c.3940C>T (p.Pro1314Ser)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083751C>T , CM000678.2:g.2083751C>T GRCh38
NC_000016.9:g.2133752C>T , CM000678.1:g.2133752C>T GRCh37
NC_000016.8:g.2073753C>T NCBI36
NG_005895.1:g.39446C>T , LRG_487:g.39446C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3940C>T MANE Select NP_000539.2:p.Pro1314Ser
ENST00000219476.9:c.3940C>T MANE Select ENSP00000219476.3:p.Pro1314Ser
NM_000548.3:c.3940C>T , LRG_487t1:c.3940C>T NP_000539.2:p.Pro1314Ser
NM_000548.4:c.3940C>T NP_000539.2:p.Pro1314Ser
NM_001077183.1:c.3739C>T NP_001070651.1:p.Pro1247Ser
NM_001077183.2:c.3739C>T NP_001070651.1:p.Pro1247Ser
NM_001077183.3:c.3739C>T NP_001070651.1:p.Pro1247Ser
NM_001114382.1:c.3871C>T NP_001107854.1:p.Pro1291Ser
NM_001114382.2:c.3871C>T NP_001107854.1:p.Pro1291Ser
NM_001114382.3:c.3871C>T NP_001107854.1:p.Pro1291Ser
NM_001318827.1:c.3631C>T NP_001305756.1:p.Pro1211Ser
NM_001318827.2:c.3631C>T NP_001305756.1:p.Pro1211Ser
NM_001318829.1:c.3595C>T NP_001305758.1:p.Pro1199Ser
NM_001318829.2:c.3595C>T NP_001305758.1:p.Pro1199Ser
NM_001318831.1:c.3208C>T NP_001305760.1:p.Pro1070Ser
NM_001318831.2:c.3208C>T NP_001305760.1:p.Pro1070Ser
NM_001318832.1:c.3772C>T NP_001305761.1:p.Pro1258Ser
NM_001318832.2:c.3772C>T NP_001305761.1:p.Pro1258Ser
NM_001363528.1:c.3742C>T NP_001350457.1:p.Pro1248Ser
NM_001363528.2:c.3742C>T NP_001350457.1:p.Pro1248Ser
NM_001370404.1:c.3808C>T NP_001357333.1:p.Pro1270Ser
NM_001370405.1:c.3811C>T NP_001357334.1:p.Pro1271Ser
NM_021055.2:c.3811C>T NP_066399.2:p.Pro1271Ser
NM_021055.3:c.3811C>T NP_066399.2:p.Pro1271Ser
ENST00000219476.7:c.3940C>T ENSP00000219476.3:p.Pro1314Ser
ENST00000350773.8:c.3871C>T ENSP00000344383.4:p.Pro1291Ser
ENST00000350773.9:c.3871C>T ENSP00000344383.4:p.Pro1291Ser
ENST00000382538.10:c.3595C>T ENSP00000371978.6:p.Pro1199Ser
ENST00000401874.6:c.3739C>T ENSP00000384468.2:p.Pro1247Ser
ENST00000401874.7:c.3739C>T ENSP00000384468.2:p.Pro1247Ser
ENST00000439117.6:c.*3107C>T ENSP00000406980.2:n.*3107C>T
ENST00000439673.6:c.3631C>T ENSP00000399232.2:p.Pro1211Ser
ENST00000497886.5:n.1698C>T
ENST00000568454.5:c.3772C>T ENSP00000454487.1:p.Pro1258Ser
ENST00000568454.6:c.3772C>T ENSP00000454487.1:p.Pro1258Ser
ENST00000568566.6:c.*2289C>T ENSP00000455997.2:n.*2289C>T
ENST00000569110.1:c.122C>T
ENST00000569110.2:c.176C>T
ENST00000569930.1:n.1055C>T
ENST00000569930.2:n.1822C>T
ENST00000642206.2:c.3787C>T ENSP00000495146.2:p.Pro1263Ser
ENST00000642365.1:c.2594C>T
ENST00000642365.2:c.3937C>T ENSP00000495459.2:p.Pro1313Ser
ENST00000642561.1:c.3811C>T ENSP00000495099.1:p.Pro1271Ser
ENST00000642728.1:n.122C>T
ENST00000642797.1:c.3742C>T ENSP00000493846.1:p.Pro1248Ser
ENST00000642936.1:c.3808C>T ENSP00000494514.1:p.Pro1270Ser
ENST00000643088.1:c.3739C>T ENSP00000494747.1:p.Pro1247Ser
ENST00000643426.1:n.1588C>T
ENST00000643533.1:n.381C>T
ENST00000643946.1:c.3871C>T ENSP00000495927.1:p.Pro1291Ser
ENST00000644043.1:c.3811C>T ENSP00000496262.1:p.Pro1271Ser
ENST00000644329.1:c.3739C>T ENSP00000496611.1:p.Pro1247Ser
ENST00000644335.1:c.3742C>T ENSP00000496317.1:p.Pro1248Ser
ENST00000644399.1:c.3861C>T
ENST00000644417.2:c.*4320C>T ENSP00000493912.2:n.*4320C>T
ENST00000645024.1:n.2024C>T
ENST00000645186.1:c.183C>T
ENST00000646388.1:c.3940C>T ENSP00000495921.1:p.Pro1314Ser
ENST00000646464.2:c.*6689C>T ENSP00000496610.2:n.*6689C>T
ENST00000646634.1:n.2755C>T
ENST00000646674.1:n.1192C>T
ENST00000647042.1:n.1163C>T
ENST00000647180.1:n.1053C>T
XM_005255529.3:c.3811C>T XP_005255586.2:p.Pro1271Ser
XM_005255531.3:c.3742C>T XP_005255588.2:p.Pro1248Ser
XM_005255531.4:c.3742C>T XP_005255588.2:p.Pro1248Ser
XM_011522636.1:c.3994C>T XP_011520938.1:p.Pro1332Ser
XM_011522636.2:c.3994C>T XP_011520938.1:p.Pro1332Ser
XM_011522637.1:c.3991C>T XP_011520939.1:p.Pro1331Ser
XM_011522637.2:c.3991C>T XP_011520939.1:p.Pro1331Ser
XM_011522638.1:c.3883C>T XP_011520940.1:p.Pro1295Ser
XM_011522638.2:c.4156C>T XP_011520940.2:p.Pro1386Ser
XM_011522639.1:c.3865C>T XP_011520941.1:p.Pro1289Ser
XM_011522639.2:c.3865C>T XP_011520941.1:p.Pro1289Ser
XM_011522640.1:c.3862C>T XP_011520942.1:p.Pro1288Ser
XM_011522640.2:c.3862C>T XP_011520942.1:p.Pro1288Ser
XM_011522641.1:c.3631C>T XP_011520943.1:p.Pro1211Ser
XM_017023615.1:c.3937C>T XP_016879104.1:p.Pro1313Ser
XM_017023616.1:c.3808C>T XP_016879105.1:p.Pro1270Ser
XM_017023617.1:c.3904C>T XP_016879106.1:p.Pro1302Ser
XM_017023618.1:c.2650C>T XP_016879107.1:p.Pro884Ser
XM_024450413.1:c.3739C>T XP_024306181.1:p.Pro1247Ser