Canonical Allele Identifier: CA493042776
Gene: TSC2 HGNC NCBI

Linked Data

dbSNP Id: rs2151436926
MyVariant Identifiers: chr16:g.2129280T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079279T>A , CM000678.2:g.2079279T>A GRCh38
NC_000016.9:g.2129280T>A , CM000678.1:g.2129280T>A GRCh37
NC_000016.8:g.2069281T>A NCBI36
NG_005895.1:g.34974T>A , LRG_487:g.34974T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*1553T>A ENSP00000455997.2:n.*1553T>A
ENST00000642206.2:c.3051T>A ENSP00000495146.2:p.Ser1017=
ENST00000642365.2:c.3132T>A ENSP00000495459.2:p.Ser1044=
ENST00000644417.2:c.*3584T>A ENSP00000493912.2:n.*3584T>A
ENST00000646464.2:c.*4057T>A ENSP00000496610.2:n.*4057T>A
ENST00000219476.9:c.3135T>A MANE Select ENSP00000219476.3:p.Ser1045=
ENST00000350773.9:c.3135T>A ENSP00000344383.4:p.Ser1045=
ENST00000401874.7:c.3003T>A ENSP00000384468.2:p.Ser1001=
ENST00000471143.6:c.363T>A ENSP00000458541.2:n.363T>A
ENST00000568366.6:n.492T>A
ENST00000568454.6:c.3036T>A ENSP00000454487.1:p.Ser1012=
ENST00000642365.1:c.1789T>A
ENST00000642561.1:c.3006T>A ENSP00000495099.1:p.Ser1002=
ENST00000642797.1:c.3006T>A ENSP00000493846.1:p.Ser1002=
ENST00000642936.1:c.3003T>A ENSP00000494514.1:p.Ser1001=
ENST00000643088.1:c.3003T>A ENSP00000494747.1:p.Ser1001=
ENST00000643946.1:c.3135T>A ENSP00000495927.1:p.Ser1045=
ENST00000644043.1:c.3006T>A ENSP00000496262.1:p.Ser1002=
ENST00000644329.1:c.3003T>A ENSP00000496611.1:p.Ser1001=
ENST00000644335.1:c.3006T>A ENSP00000496317.1:p.Ser1002=
ENST00000644399.1:c.3125T>A
ENST00000644722.1:n.281T>A
ENST00000645024.1:n.1288T>A
ENST00000646388.1:c.3135T>A ENSP00000495921.1:p.Ser1045=
ENST00000646634.1:n.2019T>A
ENST00000647042.1:n.427T>A
ENST00000219476.7:c.3135T>A ENSP00000219476.3:p.Ser1045=
ENST00000350773.8:c.3135T>A ENSP00000344383.4:p.Ser1045=
ENST00000382538.10:c.2859T>A ENSP00000371978.6:p.Ser953=
ENST00000401874.6:c.3003T>A ENSP00000384468.2:p.Ser1001=
ENST00000439117.6:c.*2302T>A ENSP00000406980.2:n.*2302T>A
ENST00000439673.6:c.2895T>A ENSP00000399232.2:p.Ser965=
ENST00000471143.5:c.361T>A
ENST00000483020.5:c.375T>A ENSP00000460310.1:n.375T>A
ENST00000497886.5:n.962T>A
ENST00000561695.1:n.360T>A
ENST00000568366.5:n.492T>A
ENST00000568454.5:c.3036T>A ENSP00000454487.1:p.Ser1012=
NM_000548.3:c.3135T>A , LRG_487t1:c.3135T>A NP_000539.2:p.Ser1045=
NM_001077183.1:c.3003T>A NP_001070651.1:p.Ser1001=
NM_001114382.1:c.3135T>A NP_001107854.1:p.Ser1045=
XM_005255529.3:c.3006T>A XP_005255586.2:p.Ser1002=
XM_005255531.3:c.3006T>A XP_005255588.2:p.Ser1002=
XM_011522636.1:c.3135T>A XP_011520938.1:p.Ser1045=
XM_011522637.1:c.3132T>A XP_011520939.1:p.Ser1044=
XM_011522638.1:c.3024T>A XP_011520940.1:p.Ser1008=
XM_011522639.1:c.3006T>A XP_011520941.1:p.Ser1002=
XM_011522640.1:c.3003T>A XP_011520942.1:p.Ser1001=
XM_011522641.1:c.2895T>A XP_011520943.1:p.Ser965=
NM_000548.4:c.3135T>A NP_000539.2:p.Ser1045=
NM_001077183.2:c.3003T>A NP_001070651.1:p.Ser1001=
NM_001114382.2:c.3135T>A NP_001107854.1:p.Ser1045=
NM_001318827.1:c.2895T>A NP_001305756.1:p.Ser965=
NM_001318829.1:c.2859T>A NP_001305758.1:p.Ser953=
NM_001318831.1:c.2403T>A NP_001305760.1:p.Ser801=
NM_001318832.1:c.3036T>A NP_001305761.1:p.Ser1012=
NM_001363528.1:c.3006T>A NP_001350457.1:p.Ser1002=
NM_021055.2:c.3006T>A NP_066399.2:p.Ser1002=
XM_005255531.4:c.3006T>A XP_005255588.2:p.Ser1002=
XM_011522636.2:c.3135T>A XP_011520938.1:p.Ser1045=
XM_011522637.2:c.3132T>A XP_011520939.1:p.Ser1044=
XM_011522638.2:c.3297T>A XP_011520940.2:p.Ser1099=
XM_011522639.2:c.3006T>A XP_011520941.1:p.Ser1002=
XM_011522640.2:c.3003T>A XP_011520942.1:p.Ser1001=
XM_017023615.1:c.3132T>A XP_016879104.1:p.Ser1044=
XM_017023616.1:c.3003T>A XP_016879105.1:p.Ser1001=
XM_017023617.1:c.3168T>A XP_016879106.1:p.Ser1056=
XM_017023618.1:c.1791T>A XP_016879107.1:p.Ser597=
XM_024450413.1:c.3003T>A XP_024306181.1:p.Ser1001=
NM_000548.5:c.3135T>A MANE Select NP_000539.2:p.Ser1045=
NM_001370404.1:c.3003T>A NP_001357333.1:p.Ser1001=
NM_001370405.1:c.3006T>A NP_001357334.1:p.Ser1002=
NM_001077183.3:c.3003T>A NP_001070651.1:p.Ser1001=
NM_001114382.3:c.3135T>A NP_001107854.1:p.Ser1045=
NM_001318827.2:c.2895T>A NP_001305756.1:p.Ser965=
NM_001318829.2:c.2859T>A NP_001305758.1:p.Ser953=
NM_001318831.2:c.2403T>A NP_001305760.1:p.Ser801=
NM_001318832.2:c.3036T>A NP_001305761.1:p.Ser1012=
NM_001363528.2:c.3006T>A NP_001350457.1:p.Ser1002=
NM_021055.3:c.3006T>A NP_066399.2:p.Ser1002=