Canonical Allele Identifier: CA493043006
Community Standard Title: NM_000548.5(TSC2):c.4014A>G (p.Ser1338=)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084236A>G , CM000678.2:g.2084236A>G GRCh38
NC_000016.9:g.2134237A>G , CM000678.1:g.2134237A>G GRCh37
NC_000016.8:g.2074238A>G NCBI36
NG_005895.1:g.39931A>G , LRG_487:g.39931A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4014A>G MANE Select NP_000539.2:p.Ser1338=
ENST00000219476.9:c.4014A>G MANE Select ENSP00000219476.3:p.Ser1338=
NM_000548.3:c.4014A>G , LRG_487t1:c.4014A>G NP_000539.2:p.Ser1338=
NM_000548.4:c.4014A>G NP_000539.2:p.Ser1338=
NM_001077183.1:c.3813A>G NP_001070651.1:p.Ser1271=
NM_001077183.2:c.3813A>G NP_001070651.1:p.Ser1271=
NM_001077183.3:c.3813A>G NP_001070651.1:p.Ser1271=
NM_001114382.1:c.3945A>G NP_001107854.1:p.Ser1315=
NM_001114382.2:c.3945A>G NP_001107854.1:p.Ser1315=
NM_001114382.3:c.3945A>G NP_001107854.1:p.Ser1315=
NM_001318827.1:c.3705A>G NP_001305756.1:p.Ser1235=
NM_001318827.2:c.3705A>G NP_001305756.1:p.Ser1235=
NM_001318829.1:c.3669A>G NP_001305758.1:p.Ser1223=
NM_001318829.2:c.3669A>G NP_001305758.1:p.Ser1223=
NM_001318831.1:c.3282A>G NP_001305760.1:p.Ser1094=
NM_001318831.2:c.3282A>G NP_001305760.1:p.Ser1094=
NM_001318832.1:c.3846A>G NP_001305761.1:p.Ser1282=
NM_001318832.2:c.3846A>G NP_001305761.1:p.Ser1282=
NM_001363528.1:c.3816A>G NP_001350457.1:p.Ser1272=
NM_001363528.2:c.3816A>G NP_001350457.1:p.Ser1272=
NM_001370404.1:c.3882A>G NP_001357333.1:p.Ser1294=
NM_001370405.1:c.3885A>G NP_001357334.1:p.Ser1295=
NM_021055.2:c.3885A>G NP_066399.2:p.Ser1295=
NM_021055.3:c.3885A>G NP_066399.2:p.Ser1295=
ENST00000219476.7:c.4014A>G ENSP00000219476.3:p.Ser1338=
ENST00000350773.8:c.3945A>G ENSP00000344383.4:p.Ser1315=
ENST00000350773.9:c.3945A>G ENSP00000344383.4:p.Ser1315=
ENST00000382538.10:c.3669A>G ENSP00000371978.6:p.Ser1223=
ENST00000401874.6:c.3813A>G ENSP00000384468.2:p.Ser1271=
ENST00000401874.7:c.3813A>G ENSP00000384468.2:p.Ser1271=
ENST00000439117.6:c.*3181A>G ENSP00000406980.2:n.*3181A>G
ENST00000439673.6:c.3705A>G ENSP00000399232.2:p.Ser1235=
ENST00000497886.5:n.1772A>G
ENST00000568454.5:c.3846A>G ENSP00000454487.1:p.Ser1282=
ENST00000568454.6:c.3846A>G ENSP00000454487.1:p.Ser1282=
ENST00000568566.6:c.*2363A>G ENSP00000455997.2:n.*2363A>G
ENST00000569110.1:c.196A>G
ENST00000569110.2:c.250A>G
ENST00000569930.1:n.1129A>G
ENST00000569930.2:n.1896A>G
ENST00000642206.2:c.3861A>G ENSP00000495146.2:p.Ser1287=
ENST00000642365.1:c.2668A>G
ENST00000642365.2:c.4011A>G ENSP00000495459.2:p.Ser1337=
ENST00000642561.1:c.3885A>G ENSP00000495099.1:p.Ser1295=
ENST00000642728.1:n.196A>G
ENST00000642797.1:c.3816A>G ENSP00000493846.1:p.Ser1272=
ENST00000642936.1:c.3882A>G ENSP00000494514.1:p.Ser1294=
ENST00000643088.1:c.3813A>G ENSP00000494747.1:p.Ser1271=
ENST00000643177.1:n.28A>G
ENST00000643426.1:n.1662A>G
ENST00000643533.1:n.455A>G
ENST00000643946.1:c.3945A>G ENSP00000495927.1:p.Ser1315=
ENST00000644043.1:c.3885A>G ENSP00000496262.1:p.Ser1295=
ENST00000644329.1:c.3813A>G ENSP00000496611.1:p.Ser1271=
ENST00000644335.1:c.3816A>G ENSP00000496317.1:p.Ser1272=
ENST00000644399.1:c.3935A>G
ENST00000644417.2:c.*4394A>G ENSP00000493912.2:n.*4394A>G
ENST00000645024.1:n.2098A>G
ENST00000645186.1:c.257A>G
ENST00000646388.1:c.4014A>G ENSP00000495921.1:p.Ser1338=
ENST00000646464.2:c.*6763A>G ENSP00000496610.2:n.*6763A>G
ENST00000646634.1:n.2829A>G
ENST00000646674.1:n.1266A>G
ENST00000647042.1:n.1237A>G
ENST00000647180.1:n.1127A>G
XM_005255529.3:c.3885A>G XP_005255586.2:p.Ser1295=
XM_005255531.3:c.3816A>G XP_005255588.2:p.Ser1272=
XM_005255531.4:c.3816A>G XP_005255588.2:p.Ser1272=
XM_011522636.1:c.4068A>G XP_011520938.1:p.Ser1356=
XM_011522636.2:c.4068A>G XP_011520938.1:p.Ser1356=
XM_011522637.1:c.4065A>G XP_011520939.1:p.Ser1355=
XM_011522637.2:c.4065A>G XP_011520939.1:p.Ser1355=
XM_011522638.1:c.3957A>G XP_011520940.1:p.Ser1319=
XM_011522638.2:c.4230A>G XP_011520940.2:p.Ser1410=
XM_011522639.1:c.3939A>G XP_011520941.1:p.Ser1313=
XM_011522639.2:c.3939A>G XP_011520941.1:p.Ser1313=
XM_011522640.1:c.3936A>G XP_011520942.1:p.Ser1312=
XM_011522640.2:c.3936A>G XP_011520942.1:p.Ser1312=
XM_011522641.1:c.3705A>G XP_011520943.1:p.Ser1235=
XM_017023615.1:c.4011A>G XP_016879104.1:p.Ser1337=
XM_017023616.1:c.3882A>G XP_016879105.1:p.Ser1294=
XM_017023617.1:c.3978A>G XP_016879106.1:p.Ser1326=
XM_017023618.1:c.2724A>G XP_016879107.1:p.Ser908=
XM_024450413.1:c.3813A>G XP_024306181.1:p.Ser1271=