Canonical Allele Identifier: CA394297766
Community Standard Title: NM_000548.5(TSC2):c.3995C>T (p.Ala1332Val)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2083806C>T , CM000678.2:g.2083806C>T GRCh38
NC_000016.9:g.2133807C>T , CM000678.1:g.2133807C>T GRCh37
NC_000016.8:g.2073808C>T NCBI36
NG_005895.1:g.39501C>T , LRG_487:g.39501C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3995C>T MANE Select NP_000539.2:p.Ala1332Val
ENST00000219476.9:c.3995C>T MANE Select ENSP00000219476.3:p.Ala1332Val
NM_000548.3:c.3995C>T , LRG_487t1:c.3995C>T NP_000539.2:p.Ala1332Val
NM_000548.4:c.3995C>T NP_000539.2:p.Ala1332Val
NM_001077183.1:c.3794C>T NP_001070651.1:p.Ala1265Val
NM_001077183.2:c.3794C>T NP_001070651.1:p.Ala1265Val
NM_001077183.3:c.3794C>T NP_001070651.1:p.Ala1265Val
NM_001114382.1:c.3926C>T NP_001107854.1:p.Ala1309Val
NM_001114382.2:c.3926C>T NP_001107854.1:p.Ala1309Val
NM_001114382.3:c.3926C>T NP_001107854.1:p.Ala1309Val
NM_001318827.1:c.3686C>T NP_001305756.1:p.Ala1229Val
NM_001318827.2:c.3686C>T NP_001305756.1:p.Ala1229Val
NM_001318829.1:c.3650C>T NP_001305758.1:p.Ala1217Val
NM_001318829.2:c.3650C>T NP_001305758.1:p.Ala1217Val
NM_001318831.1:c.3263C>T NP_001305760.1:p.Ala1088Val
NM_001318831.2:c.3263C>T NP_001305760.1:p.Ala1088Val
NM_001318832.1:c.3827C>T NP_001305761.1:p.Ala1276Val
NM_001318832.2:c.3827C>T NP_001305761.1:p.Ala1276Val
NM_001363528.1:c.3797C>T NP_001350457.1:p.Ala1266Val
NM_001363528.2:c.3797C>T NP_001350457.1:p.Ala1266Val
NM_001370404.1:c.3863C>T NP_001357333.1:p.Ala1288Val
NM_001370405.1:c.3866C>T NP_001357334.1:p.Ala1289Val
NM_021055.2:c.3866C>T NP_066399.2:p.Ala1289Val
NM_021055.3:c.3866C>T NP_066399.2:p.Ala1289Val
ENST00000219476.7:c.3995C>T ENSP00000219476.3:p.Ala1332Val
ENST00000350773.8:c.3926C>T ENSP00000344383.4:p.Ala1309Val
ENST00000350773.9:c.3926C>T ENSP00000344383.4:p.Ala1309Val
ENST00000382538.10:c.3650C>T ENSP00000371978.6:p.Ala1217Val
ENST00000401874.6:c.3794C>T ENSP00000384468.2:p.Ala1265Val
ENST00000401874.7:c.3794C>T ENSP00000384468.2:p.Ala1265Val
ENST00000439117.6:c.*3162C>T ENSP00000406980.2:n.*3162C>T
ENST00000439673.6:c.3686C>T ENSP00000399232.2:p.Ala1229Val
ENST00000497886.5:n.1753C>T
ENST00000568454.5:c.3827C>T ENSP00000454487.1:p.Ala1276Val
ENST00000568454.6:c.3827C>T ENSP00000454487.1:p.Ala1276Val
ENST00000568566.6:c.*2344C>T ENSP00000455997.2:n.*2344C>T
ENST00000569110.1:c.177C>T
ENST00000569110.2:c.231C>T
ENST00000569930.1:n.1110C>T
ENST00000569930.2:n.1877C>T
ENST00000642206.2:c.3842C>T ENSP00000495146.2:p.Ala1281Val
ENST00000642365.1:c.2649C>T
ENST00000642365.2:c.3992C>T ENSP00000495459.2:p.Ala1331Val
ENST00000642561.1:c.3866C>T ENSP00000495099.1:p.Ala1289Val
ENST00000642728.1:n.177C>T
ENST00000642797.1:c.3797C>T ENSP00000493846.1:p.Ala1266Val
ENST00000642936.1:c.3863C>T ENSP00000494514.1:p.Ala1288Val
ENST00000643088.1:c.3794C>T ENSP00000494747.1:p.Ala1265Val
ENST00000643177.1:n.9C>T
ENST00000643426.1:n.1643C>T
ENST00000643533.1:n.436C>T
ENST00000643946.1:c.3926C>T ENSP00000495927.1:p.Ala1309Val
ENST00000644043.1:c.3866C>T ENSP00000496262.1:p.Ala1289Val
ENST00000644329.1:c.3794C>T ENSP00000496611.1:p.Ala1265Val
ENST00000644335.1:c.3797C>T ENSP00000496317.1:p.Ala1266Val
ENST00000644399.1:c.3916C>T
ENST00000644417.2:c.*4375C>T ENSP00000493912.2:n.*4375C>T
ENST00000645024.1:n.2079C>T
ENST00000645186.1:c.238C>T
ENST00000646388.1:c.3995C>T ENSP00000495921.1:p.Ala1332Val
ENST00000646464.2:c.*6744C>T ENSP00000496610.2:n.*6744C>T
ENST00000646634.1:n.2810C>T
ENST00000646674.1:n.1247C>T
ENST00000647042.1:n.1218C>T
ENST00000647180.1:n.1108C>T
XM_005255529.3:c.3866C>T XP_005255586.2:p.Ala1289Val
XM_005255531.3:c.3797C>T XP_005255588.2:p.Ala1266Val
XM_005255531.4:c.3797C>T XP_005255588.2:p.Ala1266Val
XM_011522636.1:c.4049C>T XP_011520938.1:p.Ala1350Val
XM_011522636.2:c.4049C>T XP_011520938.1:p.Ala1350Val
XM_011522637.1:c.4046C>T XP_011520939.1:p.Ala1349Val
XM_011522637.2:c.4046C>T XP_011520939.1:p.Ala1349Val
XM_011522638.1:c.3938C>T XP_011520940.1:p.Ala1313Val
XM_011522638.2:c.4211C>T XP_011520940.2:p.Ala1404Val
XM_011522639.1:c.3920C>T XP_011520941.1:p.Ala1307Val
XM_011522639.2:c.3920C>T XP_011520941.1:p.Ala1307Val
XM_011522640.1:c.3917C>T XP_011520942.1:p.Ala1306Val
XM_011522640.2:c.3917C>T XP_011520942.1:p.Ala1306Val
XM_011522641.1:c.3686C>T XP_011520943.1:p.Ala1229Val
XM_017023615.1:c.3992C>T XP_016879104.1:p.Ala1331Val
XM_017023616.1:c.3863C>T XP_016879105.1:p.Ala1288Val
XM_017023617.1:c.3959C>T XP_016879106.1:p.Ala1320Val
XM_017023618.1:c.2705C>T XP_016879107.1:p.Ala902Val
XM_024450413.1:c.3794C>T XP_024306181.1:p.Ala1265Val