Canonical Allele Identifier: CA394299641
Community Standard Title: NM_000548.5(TSC2):c.4142C>A (p.Pro1381His)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084364C>A , CM000678.2:g.2084364C>A GRCh38
NC_000016.9:g.2134365C>A , CM000678.1:g.2134365C>A GRCh37
NC_000016.8:g.2074366C>A NCBI36
NG_005895.1:g.40059C>A , LRG_487:g.40059C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4142C>A MANE Select NP_000539.2:p.Pro1381His
ENST00000219476.9:c.4142C>A MANE Select ENSP00000219476.3:p.Pro1381His
NM_000548.3:c.4142C>A , LRG_487t1:c.4142C>A NP_000539.2:p.Pro1381His
NM_000548.4:c.4142C>A NP_000539.2:p.Pro1381His
NM_001077183.1:c.3941C>A NP_001070651.1:p.Pro1314His
NM_001077183.2:c.3941C>A NP_001070651.1:p.Pro1314His
NM_001077183.3:c.3941C>A NP_001070651.1:p.Pro1314His
NM_001114382.1:c.4073C>A NP_001107854.1:p.Pro1358His
NM_001114382.2:c.4073C>A NP_001107854.1:p.Pro1358His
NM_001114382.3:c.4073C>A NP_001107854.1:p.Pro1358His
NM_001318827.1:c.3833C>A NP_001305756.1:p.Pro1278His
NM_001318827.2:c.3833C>A NP_001305756.1:p.Pro1278His
NM_001318829.1:c.3797C>A NP_001305758.1:p.Pro1266His
NM_001318829.2:c.3797C>A NP_001305758.1:p.Pro1266His
NM_001318831.1:c.3410C>A NP_001305760.1:p.Pro1137His
NM_001318831.2:c.3410C>A NP_001305760.1:p.Pro1137His
NM_001318832.1:c.3974C>A NP_001305761.1:p.Pro1325His
NM_001318832.2:c.3974C>A NP_001305761.1:p.Pro1325His
NM_001363528.1:c.3944C>A NP_001350457.1:p.Pro1315His
NM_001363528.2:c.3944C>A NP_001350457.1:p.Pro1315His
NM_001370404.1:c.4010C>A NP_001357333.1:p.Pro1337His
NM_001370405.1:c.4013C>A NP_001357334.1:p.Pro1338His
NM_021055.2:c.4013C>A NP_066399.2:p.Pro1338His
NM_021055.3:c.4013C>A NP_066399.2:p.Pro1338His
ENST00000219476.7:c.4142C>A ENSP00000219476.3:p.Pro1381His
ENST00000350773.8:c.4073C>A ENSP00000344383.4:p.Pro1358His
ENST00000350773.9:c.4073C>A ENSP00000344383.4:p.Pro1358His
ENST00000382538.10:c.3797C>A ENSP00000371978.6:p.Pro1266His
ENST00000401874.6:c.3941C>A ENSP00000384468.2:p.Pro1314His
ENST00000401874.7:c.3941C>A ENSP00000384468.2:p.Pro1314His
ENST00000439117.6:c.*3309C>A ENSP00000406980.2:n.*3309C>A
ENST00000439673.6:c.3833C>A ENSP00000399232.2:p.Pro1278His
ENST00000497886.5:n.1900C>A
ENST00000568454.5:c.3974C>A ENSP00000454487.1:p.Pro1325His
ENST00000568454.6:c.3974C>A ENSP00000454487.1:p.Pro1325His
ENST00000568566.6:c.*2491C>A ENSP00000455997.2:n.*2491C>A
ENST00000569110.1:c.324C>A
ENST00000569110.2:c.378C>A
ENST00000569930.1:n.1257C>A
ENST00000569930.2:n.2024C>A
ENST00000642206.2:c.3989C>A ENSP00000495146.2:p.Pro1330His
ENST00000642365.1:c.2796C>A
ENST00000642365.2:c.4139C>A ENSP00000495459.2:p.Pro1380His
ENST00000642561.1:c.4013C>A ENSP00000495099.1:p.Pro1338His
ENST00000642728.1:n.324C>A
ENST00000642797.1:c.3944C>A ENSP00000493846.1:p.Pro1315His
ENST00000642936.1:c.4010C>A ENSP00000494514.1:p.Pro1337His
ENST00000643088.1:c.3941C>A ENSP00000494747.1:p.Pro1314His
ENST00000643177.1:n.156C>A
ENST00000643426.1:n.1790C>A
ENST00000643946.1:c.4073C>A ENSP00000495927.1:p.Pro1358His
ENST00000644043.1:c.4013C>A ENSP00000496262.1:p.Pro1338His
ENST00000644329.1:c.3941C>A ENSP00000496611.1:p.Pro1314His
ENST00000644335.1:c.3944C>A ENSP00000496317.1:p.Pro1315His
ENST00000644399.1:c.4063C>A
ENST00000644417.2:c.*4522C>A ENSP00000493912.2:n.*4522C>A
ENST00000645024.1:n.2226C>A
ENST00000645186.1:c.385C>A
ENST00000646388.1:c.4142C>A ENSP00000495921.1:p.Pro1381His
ENST00000646464.2:c.*6891C>A ENSP00000496610.2:n.*6891C>A
ENST00000646634.1:n.2957C>A
ENST00000646674.1:n.1394C>A
ENST00000647042.1:n.1365C>A
ENST00000647180.1:n.1255C>A
XM_005255529.3:c.4013C>A XP_005255586.2:p.Pro1338His
XM_005255531.3:c.3944C>A XP_005255588.2:p.Pro1315His
XM_005255531.4:c.3944C>A XP_005255588.2:p.Pro1315His
XM_011522636.1:c.4196C>A XP_011520938.1:p.Pro1399His
XM_011522636.2:c.4196C>A XP_011520938.1:p.Pro1399His
XM_011522637.1:c.4193C>A XP_011520939.1:p.Pro1398His
XM_011522637.2:c.4193C>A XP_011520939.1:p.Pro1398His
XM_011522638.1:c.4085C>A XP_011520940.1:p.Pro1362His
XM_011522638.2:c.4358C>A XP_011520940.2:p.Pro1453His
XM_011522639.1:c.4067C>A XP_011520941.1:p.Pro1356His
XM_011522639.2:c.4067C>A XP_011520941.1:p.Pro1356His
XM_011522640.1:c.4064C>A XP_011520942.1:p.Pro1355His
XM_011522640.2:c.4064C>A XP_011520942.1:p.Pro1355His
XM_011522641.1:c.3833C>A XP_011520943.1:p.Pro1278His
XM_017023615.1:c.4139C>A XP_016879104.1:p.Pro1380His
XM_017023616.1:c.4010C>A XP_016879105.1:p.Pro1337His
XM_017023617.1:c.4106C>A XP_016879106.1:p.Pro1369His
XM_017023618.1:c.2852C>A XP_016879107.1:p.Pro951His
XM_024450413.1:c.3941C>A XP_024306181.1:p.Pro1314His