Canonical Allele Identifier: CA394307370
Community Standard Title: NM_000548.5(TSC2):c.4710G>C (p.Arg1570Ser)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086240G>C , CM000678.2:g.2086240G>C GRCh38
NC_000016.9:g.2136241G>C , CM000678.1:g.2136241G>C GRCh37
NC_000016.8:g.2076242G>C NCBI36
NG_005895.1:g.41935G>C , LRG_487:g.41935G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4710G>C MANE Select NP_000539.2:p.Arg1570Ser
ENST00000219476.9:c.4710G>C MANE Select ENSP00000219476.3:p.Arg1570Ser
NM_000548.3:c.4710G>C , LRG_487t1:c.4710G>C NP_000539.2:p.Arg1570Ser
NM_000548.4:c.4710G>C NP_000539.2:p.Arg1570Ser
NM_001077183.1:c.4509G>C NP_001070651.1:p.Arg1503Ser
NM_001077183.2:c.4509G>C NP_001070651.1:p.Arg1503Ser
NM_001077183.3:c.4509G>C NP_001070651.1:p.Arg1503Ser
NM_001114382.1:c.4641G>C NP_001107854.1:p.Arg1547Ser
NM_001114382.2:c.4641G>C NP_001107854.1:p.Arg1547Ser
NM_001114382.3:c.4641G>C NP_001107854.1:p.Arg1547Ser
NM_001318827.1:c.4401G>C NP_001305756.1:p.Arg1467Ser
NM_001318827.2:c.4401G>C NP_001305756.1:p.Arg1467Ser
NM_001318829.1:c.4365G>C NP_001305758.1:p.Arg1455Ser
NM_001318829.2:c.4365G>C NP_001305758.1:p.Arg1455Ser
NM_001318831.1:c.3978G>C NP_001305760.1:p.Arg1326Ser
NM_001318831.2:c.3978G>C NP_001305760.1:p.Arg1326Ser
NM_001318832.1:c.4542G>C NP_001305761.1:p.Arg1514Ser
NM_001318832.2:c.4542G>C NP_001305761.1:p.Arg1514Ser
NM_001363528.1:c.4512G>C NP_001350457.1:p.Arg1504Ser
NM_001363528.2:c.4512G>C NP_001350457.1:p.Arg1504Ser
NM_001370404.1:c.4578G>C NP_001357333.1:p.Arg1526Ser
NM_001370405.1:c.4581G>C NP_001357334.1:p.Arg1527Ser
NM_021055.2:c.4581G>C NP_066399.2:p.Arg1527Ser
NM_021055.3:c.4581G>C NP_066399.2:p.Arg1527Ser
ENST00000219476.7:c.4710G>C ENSP00000219476.3:p.Arg1570Ser
ENST00000350773.8:c.4641G>C ENSP00000344383.4:p.Arg1547Ser
ENST00000350773.9:c.4641G>C ENSP00000344383.4:p.Arg1547Ser
ENST00000382538.10:c.4365G>C ENSP00000371978.6:p.Arg1455Ser
ENST00000401874.6:c.4509G>C ENSP00000384468.2:p.Arg1503Ser
ENST00000401874.7:c.4509G>C ENSP00000384468.2:p.Arg1503Ser
ENST00000439117.6:c.*3877G>C ENSP00000406980.2:n.*3877G>C
ENST00000439673.6:c.4401G>C ENSP00000399232.2:p.Arg1467Ser
ENST00000497886.5:n.2468G>C
ENST00000568454.5:c.4542G>C ENSP00000454487.1:p.Arg1514Ser
ENST00000568454.6:c.4542G>C ENSP00000454487.1:p.Arg1514Ser
ENST00000568566.6:c.*3059G>C ENSP00000455997.2:n.*3059G>C
ENST00000569110.1:c.892G>C
ENST00000569110.2:c.933G>C
ENST00000569930.1:n.1825G>C
ENST00000569930.2:n.2592G>C
ENST00000642206.2:c.4557G>C ENSP00000495146.2:p.Arg1519Ser
ENST00000642365.1:c.3364G>C
ENST00000642365.2:c.4707G>C ENSP00000495459.2:p.Arg1569Ser
ENST00000642561.1:c.4581G>C ENSP00000495099.1:p.Arg1527Ser
ENST00000642728.1:n.892G>C
ENST00000642791.1:n.307G>C
ENST00000642797.1:c.4512G>C ENSP00000493846.1:p.Arg1504Ser
ENST00000642936.1:c.4578G>C ENSP00000494514.1:p.Arg1526Ser
ENST00000643088.1:c.4503G>C ENSP00000494747.1:p.Arg1501Ser
ENST00000643177.1:n.724G>C
ENST00000643426.1:n.2358G>C
ENST00000643946.1:c.4635G>C ENSP00000495927.1:p.Arg1545Ser
ENST00000644043.1:c.4581G>C ENSP00000496262.1:p.Arg1527Ser
ENST00000644278.1:n.192G>C
ENST00000644329.1:c.4509G>C ENSP00000496611.1:p.Arg1503Ser
ENST00000644335.1:c.4506G>C ENSP00000496317.1:p.Arg1502Ser
ENST00000644399.1:c.4631G>C
ENST00000644417.2:c.*5223G>C ENSP00000493912.2:n.*5223G>C
ENST00000645024.1:n.2794G>C
ENST00000646388.1:c.4704G>C ENSP00000495921.1:p.Arg1568Ser
ENST00000646464.2:c.*7459G>C ENSP00000496610.2:n.*7459G>C
ENST00000646634.1:n.3525G>C
ENST00000646674.1:n.1962G>C
ENST00000647042.1:n.1933G>C
ENST00000647180.1:n.1823G>C
XM_005255529.3:c.4581G>C XP_005255586.2:p.Arg1527Ser
XM_005255531.3:c.4512G>C XP_005255588.2:p.Arg1504Ser
XM_005255531.4:c.4512G>C XP_005255588.2:p.Arg1504Ser
XM_011522636.1:c.4764G>C XP_011520938.1:p.Arg1588Ser
XM_011522636.2:c.4764G>C XP_011520938.1:p.Arg1588Ser
XM_011522637.1:c.4761G>C XP_011520939.1:p.Arg1587Ser
XM_011522637.2:c.4761G>C XP_011520939.1:p.Arg1587Ser
XM_011522638.1:c.4653G>C XP_011520940.1:p.Arg1551Ser
XM_011522638.2:c.4926G>C XP_011520940.2:p.Arg1642Ser
XM_011522639.1:c.4635G>C XP_011520941.1:p.Arg1545Ser
XM_011522639.2:c.4635G>C XP_011520941.1:p.Arg1545Ser
XM_011522640.1:c.4632G>C XP_011520942.1:p.Arg1544Ser
XM_011522640.2:c.4632G>C XP_011520942.1:p.Arg1544Ser
XM_011522641.1:c.4401G>C XP_011520943.1:p.Arg1467Ser
XM_017023615.1:c.4707G>C XP_016879104.1:p.Arg1569Ser
XM_017023616.1:c.4578G>C XP_016879105.1:p.Arg1526Ser
XM_017023617.1:c.4674G>C XP_016879106.1:p.Arg1558Ser
XM_017023618.1:c.3420G>C XP_016879107.1:p.Arg1140Ser
XM_024450413.1:c.4509G>C XP_024306181.1:p.Arg1503Ser