Canonical Allele Identifier: CA2202019413
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2085282A= , CM000678.2:g.2085282A= GRCh38
NC_000016.9:g.2135283A= , CM000678.1:g.2135283A= GRCh37
NC_000016.8:g.2075284A= NCBI36
NG_005895.1:g.40977A= , LRG_487:g.40977A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2971A= ENSP00000455997.2:n.*2971A=
ENST00000642206.2:c.4469A= ENSP00000495146.2:p.Asp1490=
ENST00000642365.2:c.4619A= ENSP00000495459.2:p.Asp1540=
ENST00000644417.2:c.*5002A= ENSP00000493912.2:n.*5002A=
ENST00000646464.2:c.*7371A= ENSP00000496610.2:n.*7371A=
ENST00000219476.9:c.4622A= MANE Select ENSP00000219476.3:p.Asp1541=
ENST00000350773.9:c.4553A= ENSP00000344383.4:p.Asp1518=
ENST00000401874.7:c.4421A= ENSP00000384468.2:p.Asp1474=
ENST00000568454.6:c.4454A= ENSP00000454487.1:p.Asp1485=
ENST00000569110.2:c.845A=
ENST00000569930.2:n.2504A=
ENST00000642365.1:c.3276A=
ENST00000642561.1:c.4493A= ENSP00000495099.1:p.Asp1498=
ENST00000642728.1:n.804A=
ENST00000642791.1:n.219A=
ENST00000642797.1:c.4424A= ENSP00000493846.1:p.Asp1475=
ENST00000642936.1:c.4490A= ENSP00000494514.1:p.Asp1497=
ENST00000643088.1:c.4415A= ENSP00000494747.1:p.Asp1472=
ENST00000643177.1:n.636A=
ENST00000643426.1:n.2270A=
ENST00000643946.1:c.4547A= ENSP00000495927.1:p.Asp1516=
ENST00000644043.1:c.4493A= ENSP00000496262.1:p.Asp1498=
ENST00000644278.1:n.104A=
ENST00000644329.1:c.4421A= ENSP00000496611.1:p.Asp1474=
ENST00000644335.1:c.4418A= ENSP00000496317.1:p.Asp1473=
ENST00000644399.1:c.4543A=
ENST00000645024.1:n.2706A=
ENST00000646388.1:c.4616A= ENSP00000495921.1:p.Asp1539=
ENST00000646634.1:n.3437A=
ENST00000646674.1:n.1874A=
ENST00000647042.1:n.1845A=
ENST00000647180.1:n.1735A=
ENST00000219476.7:c.4622A= ENSP00000219476.3:p.Asp1541=
ENST00000350773.8:c.4553A= ENSP00000344383.4:p.Asp1518=
ENST00000382538.10:c.4277A= ENSP00000371978.6:p.Asp1426=
ENST00000401874.6:c.4421A= ENSP00000384468.2:p.Asp1474=
ENST00000439117.6:c.*3789A= ENSP00000406980.2:n.*3789A=
ENST00000439673.6:c.4313A= ENSP00000399232.2:p.Asp1438=
ENST00000497886.5:n.2380A=
ENST00000568454.5:c.4454A= ENSP00000454487.1:p.Asp1485=
ENST00000569110.1:c.804A=
ENST00000569930.1:n.1737A=
NM_000548.3:c.4622A= , LRG_487t1:c.4622A= NP_000539.2:p.Asp1541=
NM_001077183.1:c.4421A= NP_001070651.1:p.Asp1474=
NM_001114382.1:c.4553A= NP_001107854.1:p.Asp1518=
XM_005255529.3:c.4493A= XP_005255586.2:p.Asp1498=
XM_005255531.3:c.4424A= XP_005255588.2:p.Asp1475=
XM_011522636.1:c.4676A= XP_011520938.1:p.Asp1559=
XM_011522637.1:c.4673A= XP_011520939.1:p.Asp1558=
XM_011522638.1:c.4565A= XP_011520940.1:p.Asp1522=
XM_011522639.1:c.4547A= XP_011520941.1:p.Asp1516=
XM_011522640.1:c.4544A= XP_011520942.1:p.Asp1515=
XM_011522641.1:c.4313A= XP_011520943.1:p.Asp1438=
NM_000548.4:c.4622A= NP_000539.2:p.Asp1541=
NM_001077183.2:c.4421A= NP_001070651.1:p.Asp1474=
NM_001114382.2:c.4553A= NP_001107854.1:p.Asp1518=
NM_001318827.1:c.4313A= NP_001305756.1:p.Asp1438=
NM_001318829.1:c.4277A= NP_001305758.1:p.Asp1426=
NM_001318831.1:c.3890A= NP_001305760.1:p.Asp1297=
NM_001318832.1:c.4454A= NP_001305761.1:p.Asp1485=
NM_001363528.1:c.4424A= NP_001350457.1:p.Asp1475=
NM_021055.2:c.4493A= NP_066399.2:p.Asp1498=
XM_005255531.4:c.4424A= XP_005255588.2:p.Asp1475=
XM_011522636.2:c.4676A= XP_011520938.1:p.Asp1559=
XM_011522637.2:c.4673A= XP_011520939.1:p.Asp1558=
XM_011522638.2:c.4838A= XP_011520940.2:p.Asp1613=
XM_011522639.2:c.4547A= XP_011520941.1:p.Asp1516=
XM_011522640.2:c.4544A= XP_011520942.1:p.Asp1515=
XM_017023615.1:c.4619A= XP_016879104.1:p.Asp1540=
XM_017023616.1:c.4490A= XP_016879105.1:p.Asp1497=
XM_017023617.1:c.4586A= XP_016879106.1:p.Asp1529=
XM_017023618.1:c.3332A= XP_016879107.1:p.Asp1111=
XM_024450413.1:c.4421A= XP_024306181.1:p.Asp1474=
NM_000548.5:c.4622A= MANE Select NP_000539.2:p.Asp1541=
NM_001370404.1:c.4490A= NP_001357333.1:p.Asp1497=
NM_001370405.1:c.4493A= NP_001357334.1:p.Asp1498=
NM_001077183.3:c.4421A= NP_001070651.1:p.Asp1474=
NM_001114382.3:c.4553A= NP_001107854.1:p.Asp1518=
NM_001318827.2:c.4313A= NP_001305756.1:p.Asp1438=
NM_001318829.2:c.4277A= NP_001305758.1:p.Asp1426=
NM_001318831.2:c.3890A= NP_001305760.1:p.Asp1297=
NM_001318832.2:c.4454A= NP_001305761.1:p.Asp1485=
NM_001363528.2:c.4424A= NP_001350457.1:p.Asp1475=
NM_021055.3:c.4493A= NP_066399.2:p.Asp1498=