Canonical Allele Identifier: CA2202032378
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088283G= , CM000678.2:g.2088283G= GRCh38
NC_000016.9:g.2138284G= , CM000678.1:g.2138284G= GRCh37
NC_000016.8:g.2078285G= NCBI36
NG_005895.1:g.43978G= , LRG_487:g.43978G=
NG_008617.1:g.54938C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*3566G= ENSP00000455997.2:n.*3566G=
ENST00000642206.2:c.5064G= ENSP00000495146.2:p.Lys1688=
ENST00000642365.2:c.5214G= ENSP00000495459.2:p.Lys1738=
ENST00000644417.2:c.*5730G= ENSP00000493912.2:n.*5730G=
ENST00000646464.2:c.*7966G= ENSP00000496610.2:n.*7966G=
ENST00000219476.9:c.5217G= MANE Select ENSP00000219476.3:p.Lys1739=
ENST00000350773.9:c.5148G= ENSP00000344383.4:p.Lys1716=
ENST00000401874.7:c.5016G= ENSP00000384468.2:p.Lys1672=
ENST00000568454.6:c.5049G= ENSP00000454487.1:p.Lys1683=
ENST00000569110.2:c.1440G=
ENST00000569930.2:n.3099G=
ENST00000642365.1:c.3871G=
ENST00000642561.1:c.5076G= ENSP00000495099.1:p.Lys1692=
ENST00000642791.1:n.814G=
ENST00000642797.1:c.5019G= ENSP00000493846.1:p.Lys1673=
ENST00000642936.1:c.5085G= ENSP00000494514.1:p.Lys1695=
ENST00000643088.1:c.5010G= ENSP00000494747.1:p.Lys1670=
ENST00000643426.1:n.2865G=
ENST00000643946.1:c.5142G= ENSP00000495927.1:p.Lys1714=
ENST00000644043.1:c.5088G= ENSP00000496262.1:p.Lys1696=
ENST00000644329.1:c.5103G= ENSP00000496611.1:p.Lys1701=
ENST00000644335.1:c.5013G= ENSP00000496317.1:p.Lys1671=
ENST00000644399.1:c.5138G=
ENST00000645024.1:n.3301G=
ENST00000646388.1:c.5211G= ENSP00000495921.1:p.Lys1737=
ENST00000646634.1:n.4032G=
ENST00000646674.1:n.2469G=
ENST00000647042.1:n.2440G=
ENST00000647180.1:n.2330G=
ENST00000219476.7:c.5217G= ENSP00000219476.3:p.Lys1739=
ENST00000350773.8:c.5148G= ENSP00000344383.4:p.Lys1716=
ENST00000382538.10:c.4872G= ENSP00000371978.6:p.Lys1624=
ENST00000401874.6:c.5016G= ENSP00000384468.2:p.Lys1672=
ENST00000439117.6:c.*4384G= ENSP00000406980.2:n.*4384G=
ENST00000439673.6:c.4908G= ENSP00000399232.2:p.Lys1636=
ENST00000497886.5:n.2940G=
ENST00000568454.5:c.5049G= ENSP00000454487.1:p.Lys1683=
ENST00000569110.1:c.1399G=
ENST00000569930.1:n.2332G=
NM_000548.3:c.5217G= , LRG_487t1:c.5217G= NP_000539.2:p.Lys1739=
NM_001077183.1:c.5016G= NP_001070651.1:p.Lys1672=
NM_001114382.1:c.5148G= NP_001107854.1:p.Lys1716=
XM_005255529.3:c.5088G= XP_005255586.2:p.Lys1696=
XM_005255531.3:c.5019G= XP_005255588.2:p.Lys1673=
XM_011522636.1:c.5271G= XP_011520938.1:p.Lys1757=
XM_011522637.1:c.5268G= XP_011520939.1:p.Lys1756=
XM_011522638.1:c.5160G= XP_011520940.1:p.Lys1720=
XM_011522639.1:c.5142G= XP_011520941.1:p.Lys1714=
XM_011522640.1:c.5139G= XP_011520942.1:p.Lys1713=
XM_011522641.1:c.4908G= XP_011520943.1:p.Lys1636=
NM_000548.4:c.5217G= NP_000539.2:p.Lys1739=
NM_001077183.2:c.5016G= NP_001070651.1:p.Lys1672=
NM_001114382.2:c.5148G= NP_001107854.1:p.Lys1716=
NM_001318827.1:c.4908G= NP_001305756.1:p.Lys1636=
NM_001318829.1:c.4872G= NP_001305758.1:p.Lys1624=
NM_001318831.1:c.4485G= NP_001305760.1:p.Lys1495=
NM_001318832.1:c.5049G= NP_001305761.1:p.Lys1683=
NM_001363528.1:c.5019G= NP_001350457.1:p.Lys1673=
NM_021055.2:c.5088G= NP_066399.2:p.Lys1696=
XM_005255531.4:c.5019G= XP_005255588.2:p.Lys1673=
XM_011522636.2:c.5271G= XP_011520938.1:p.Lys1757=
XM_011522637.2:c.5268G= XP_011520939.1:p.Lys1756=
XM_011522638.2:c.5433G= XP_011520940.2:p.Lys1811=
XM_011522639.2:c.5142G= XP_011520941.1:p.Lys1714=
XM_011522640.2:c.5139G= XP_011520942.1:p.Lys1713=
XM_017023615.1:c.5214G= XP_016879104.1:p.Lys1738=
XM_017023616.1:c.5085G= XP_016879105.1:p.Lys1695=
XM_017023617.1:c.5181G= XP_016879106.1:p.Lys1727=
XM_017023618.1:c.3927G= XP_016879107.1:p.Lys1309=
XM_024450413.1:c.5103G= XP_024306181.1:p.Lys1701=
NM_000548.5:c.5217G= MANE Select NP_000539.2:p.Lys1739=
NM_001370404.1:c.5085G= NP_001357333.1:p.Lys1695=
NM_001370405.1:c.5076G= NP_001357334.1:p.Lys1692=
NM_001077183.3:c.5016G= NP_001070651.1:p.Lys1672=
NM_001114382.3:c.5148G= NP_001107854.1:p.Lys1716=
NM_001318827.2:c.4908G= NP_001305756.1:p.Lys1636=
NM_001318829.2:c.4872G= NP_001305758.1:p.Lys1624=
NM_001318831.2:c.4485G= NP_001305760.1:p.Lys1495=
NM_001318832.2:c.5049G= NP_001305761.1:p.Lys1683=
NM_001363528.2:c.5019G= NP_001350457.1:p.Lys1673=
NM_021055.3:c.5088G= NP_066399.2:p.Lys1696=