Canonical Allele Identifier: CA2202025395
Community Standard Title: NM_000548.5(TSC2):c.4936G= (p.Val1646=)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086818G= , CM000678.2:g.2086818G= GRCh38
NC_000016.9:g.2136819G= , CM000678.1:g.2136819G= GRCh37
NC_000016.8:g.2076820G= NCBI36
NG_005895.1:g.42513G= , LRG_487:g.42513G=
NG_008617.1:g.56403C=

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4936G= MANE Select NP_000539.2:p.Val1646=
ENST00000219476.9:c.4936G= MANE Select ENSP00000219476.3:p.Val1646=
NM_000548.3:c.4936G= , LRG_487t1:c.4936G= NP_000539.2:p.Val1646=
NM_000548.4:c.4936G= NP_000539.2:p.Val1646=
NM_001077183.1:c.4735G= NP_001070651.1:p.Val1579=
NM_001077183.2:c.4735G= NP_001070651.1:p.Val1579=
NM_001077183.3:c.4735G= NP_001070651.1:p.Val1579=
NM_001114382.1:c.4867G= NP_001107854.1:p.Val1623=
NM_001114382.2:c.4867G= NP_001107854.1:p.Val1623=
NM_001114382.3:c.4867G= NP_001107854.1:p.Val1623=
NM_001318827.1:c.4627G= NP_001305756.1:p.Val1543=
NM_001318827.2:c.4627G= NP_001305756.1:p.Val1543=
NM_001318829.1:c.4591G= NP_001305758.1:p.Val1531=
NM_001318829.2:c.4591G= NP_001305758.1:p.Val1531=
NM_001318831.1:c.4204G= NP_001305760.1:p.Val1402=
NM_001318831.2:c.4204G= NP_001305760.1:p.Val1402=
NM_001318832.1:c.4768G= NP_001305761.1:p.Val1590=
NM_001318832.2:c.4768G= NP_001305761.1:p.Val1590=
NM_001363528.1:c.4738G= NP_001350457.1:p.Val1580=
NM_001363528.2:c.4738G= NP_001350457.1:p.Val1580=
NM_001370404.1:c.4804G= NP_001357333.1:p.Val1602=
NM_001370405.1:c.4807G= NP_001357334.1:p.Val1603=
NM_021055.2:c.4807G= NP_066399.2:p.Val1603=
NM_021055.3:c.4807G= NP_066399.2:p.Val1603=
ENST00000219476.7:c.4936G= ENSP00000219476.3:p.Val1646=
ENST00000350773.8:c.4867G= ENSP00000344383.4:p.Val1623=
ENST00000350773.9:c.4867G= ENSP00000344383.4:p.Val1623=
ENST00000382538.10:c.4591G= ENSP00000371978.6:p.Val1531=
ENST00000401874.6:c.4735G= ENSP00000384468.2:p.Val1579=
ENST00000401874.7:c.4735G= ENSP00000384468.2:p.Val1579=
ENST00000439117.6:c.*4103G= ENSP00000406980.2:n.*4103G=
ENST00000439673.6:c.4627G= ENSP00000399232.2:p.Val1543=
ENST00000497886.5:n.2659G=
ENST00000568454.5:c.4768G= ENSP00000454487.1:p.Val1590=
ENST00000568454.6:c.4768G= ENSP00000454487.1:p.Val1590=
ENST00000568566.6:c.*3285G= ENSP00000455997.2:n.*3285G=
ENST00000569110.1:c.1118G=
ENST00000569110.2:c.1159G=
ENST00000569930.1:n.2051G=
ENST00000569930.2:n.2818G=
ENST00000642206.2:c.4783G= ENSP00000495146.2:p.Val1595=
ENST00000642365.1:c.3590G=
ENST00000642365.2:c.4933G= ENSP00000495459.2:p.Val1645=
ENST00000642561.1:c.4807G= ENSP00000495099.1:p.Val1603=
ENST00000642728.1:n.1118G=
ENST00000642791.1:n.533G=
ENST00000642797.1:c.4738G= ENSP00000493846.1:p.Val1580=
ENST00000642936.1:c.4804G= ENSP00000494514.1:p.Val1602=
ENST00000643088.1:c.4729G= ENSP00000494747.1:p.Val1577=
ENST00000643177.1:n.950G=
ENST00000643426.1:n.2584G=
ENST00000643946.1:c.4861G= ENSP00000495927.1:p.Val1621=
ENST00000644043.1:c.4807G= ENSP00000496262.1:p.Val1603=
ENST00000644278.1:n.418G=
ENST00000644329.1:c.4735G= ENSP00000496611.1:p.Val1579=
ENST00000644335.1:c.4732G= ENSP00000496317.1:p.Val1578=
ENST00000644399.1:c.4857G=
ENST00000644417.2:c.*5449G= ENSP00000493912.2:n.*5449G=
ENST00000645024.1:n.3020G=
ENST00000646388.1:c.4930G= ENSP00000495921.1:p.Val1644=
ENST00000646464.2:c.*7685G= ENSP00000496610.2:n.*7685G=
ENST00000646557.1:n.97G=
ENST00000646634.1:n.3751G=
ENST00000646674.1:n.2188G=
ENST00000647042.1:n.2159G=
ENST00000647180.1:n.2049G=
XM_005255529.3:c.4807G= XP_005255586.2:p.Val1603=
XM_005255531.3:c.4738G= XP_005255588.2:p.Val1580=
XM_005255531.4:c.4738G= XP_005255588.2:p.Val1580=
XM_011522636.1:c.4990G= XP_011520938.1:p.Val1664=
XM_011522636.2:c.4990G= XP_011520938.1:p.Val1664=
XM_011522637.1:c.4987G= XP_011520939.1:p.Val1663=
XM_011522637.2:c.4987G= XP_011520939.1:p.Val1663=
XM_011522638.1:c.4879G= XP_011520940.1:p.Val1627=
XM_011522638.2:c.5152G= XP_011520940.2:p.Val1718=
XM_011522639.1:c.4861G= XP_011520941.1:p.Val1621=
XM_011522639.2:c.4861G= XP_011520941.1:p.Val1621=
XM_011522640.1:c.4858G= XP_011520942.1:p.Val1620=
XM_011522640.2:c.4858G= XP_011520942.1:p.Val1620=
XM_011522641.1:c.4627G= XP_011520943.1:p.Val1543=
XM_017023615.1:c.4933G= XP_016879104.1:p.Val1645=
XM_017023616.1:c.4804G= XP_016879105.1:p.Val1602=
XM_017023617.1:c.4900G= XP_016879106.1:p.Val1634=
XM_017023618.1:c.3646G= XP_016879107.1:p.Val1216=
XM_024450413.1:c.4735G= XP_024306181.1:p.Val1579=