Canonical Allele Identifier: CA394312112
Community Standard Title: NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088071A>C , CM000678.2:g.2088071A>C GRCh38
NC_000016.9:g.2138072A>C , CM000678.1:g.2138072A>C GRCh37
NC_000016.8:g.2078073A>C NCBI36
NG_005895.1:g.43766A>C , LRG_487:g.43766A>C
NG_008617.1:g.55150T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5092A>C MANE Select NP_000539.2:p.Ser1698Arg
ENST00000219476.9:c.5092A>C MANE Select ENSP00000219476.3:p.Ser1698Arg
NM_000548.3:c.5092A>C , LRG_487t1:c.5092A>C NP_000539.2:p.Ser1698Arg
NM_000548.4:c.5092A>C NP_000539.2:p.Ser1698Arg
NM_001077183.1:c.4891A>C NP_001070651.1:p.Ser1631Arg
NM_001077183.2:c.4891A>C NP_001070651.1:p.Ser1631Arg
NM_001077183.3:c.4891A>C NP_001070651.1:p.Ser1631Arg
NM_001114382.1:c.5023A>C NP_001107854.1:p.Ser1675Arg
NM_001114382.2:c.5023A>C NP_001107854.1:p.Ser1675Arg
NM_001114382.3:c.5023A>C NP_001107854.1:p.Ser1675Arg
NM_001318827.1:c.4783A>C NP_001305756.1:p.Ser1595Arg
NM_001318827.2:c.4783A>C NP_001305756.1:p.Ser1595Arg
NM_001318829.1:c.4747A>C NP_001305758.1:p.Ser1583Arg
NM_001318829.2:c.4747A>C NP_001305758.1:p.Ser1583Arg
NM_001318831.1:c.4360A>C NP_001305760.1:p.Ser1454Arg
NM_001318831.2:c.4360A>C NP_001305760.1:p.Ser1454Arg
NM_001318832.1:c.4924A>C NP_001305761.1:p.Ser1642Arg
NM_001318832.2:c.4924A>C NP_001305761.1:p.Ser1642Arg
NM_001363528.1:c.4894A>C NP_001350457.1:p.Ser1632Arg
NM_001363528.2:c.4894A>C NP_001350457.1:p.Ser1632Arg
NM_001370404.1:c.4960A>C NP_001357333.1:p.Ser1654Arg
NM_001370405.1:c.4963A>C NP_001357334.1:p.Ser1655Arg
NM_021055.2:c.4963A>C NP_066399.2:p.Ser1655Arg
NM_021055.3:c.4963A>C NP_066399.2:p.Ser1655Arg
ENST00000219476.7:c.5092A>C ENSP00000219476.3:p.Ser1698Arg
ENST00000350773.8:c.5023A>C ENSP00000344383.4:p.Ser1675Arg
ENST00000350773.9:c.5023A>C ENSP00000344383.4:p.Ser1675Arg
ENST00000382538.10:c.4747A>C ENSP00000371978.6:p.Ser1583Arg
ENST00000401874.6:c.4891A>C ENSP00000384468.2:p.Ser1631Arg
ENST00000401874.7:c.4891A>C ENSP00000384468.2:p.Ser1631Arg
ENST00000439117.6:c.*4259A>C ENSP00000406980.2:n.*4259A>C
ENST00000439673.6:c.4783A>C ENSP00000399232.2:p.Ser1595Arg
ENST00000497886.5:n.2815A>C
ENST00000568454.5:c.4924A>C ENSP00000454487.1:p.Ser1642Arg
ENST00000568454.6:c.4924A>C ENSP00000454487.1:p.Ser1642Arg
ENST00000568566.6:c.*3441A>C ENSP00000455997.2:n.*3441A>C
ENST00000569110.1:c.1274A>C
ENST00000569110.2:c.1315A>C
ENST00000569930.1:n.2207A>C
ENST00000569930.2:n.2974A>C
ENST00000642206.2:c.4939A>C ENSP00000495146.2:p.Ser1647Arg
ENST00000642365.1:c.3746A>C
ENST00000642365.2:c.5089A>C ENSP00000495459.2:p.Ser1697Arg
ENST00000642561.1:c.4963A>C ENSP00000495099.1:p.Ser1655Arg
ENST00000642791.1:n.689A>C
ENST00000642797.1:c.4894A>C ENSP00000493846.1:p.Ser1632Arg
ENST00000642936.1:c.4960A>C ENSP00000494514.1:p.Ser1654Arg
ENST00000643088.1:c.4885A>C ENSP00000494747.1:p.Ser1629Arg
ENST00000643426.1:n.2740A>C
ENST00000643946.1:c.5017A>C ENSP00000495927.1:p.Ser1673Arg
ENST00000644043.1:c.4963A>C ENSP00000496262.1:p.Ser1655Arg
ENST00000644329.1:c.4891A>C ENSP00000496611.1:p.Ser1631Arg
ENST00000644335.1:c.4888A>C ENSP00000496317.1:p.Ser1630Arg
ENST00000644399.1:c.5013A>C
ENST00000644417.2:c.*5605A>C ENSP00000493912.2:n.*5605A>C
ENST00000645024.1:n.3176A>C
ENST00000646388.1:c.5086A>C ENSP00000495921.1:p.Ser1696Arg
ENST00000646464.2:c.*7841A>C ENSP00000496610.2:n.*7841A>C
ENST00000646634.1:n.3907A>C
ENST00000646674.1:n.2344A>C
ENST00000647042.1:n.2315A>C
ENST00000647180.1:n.2205A>C
XM_005255529.3:c.4963A>C XP_005255586.2:p.Ser1655Arg
XM_005255531.3:c.4894A>C XP_005255588.2:p.Ser1632Arg
XM_005255531.4:c.4894A>C XP_005255588.2:p.Ser1632Arg
XM_011522636.1:c.5146A>C XP_011520938.1:p.Ser1716Arg
XM_011522636.2:c.5146A>C XP_011520938.1:p.Ser1716Arg
XM_011522637.1:c.5143A>C XP_011520939.1:p.Ser1715Arg
XM_011522637.2:c.5143A>C XP_011520939.1:p.Ser1715Arg
XM_011522638.1:c.5035A>C XP_011520940.1:p.Ser1679Arg
XM_011522638.2:c.5308A>C XP_011520940.2:p.Ser1770Arg
XM_011522639.1:c.5017A>C XP_011520941.1:p.Ser1673Arg
XM_011522639.2:c.5017A>C XP_011520941.1:p.Ser1673Arg
XM_011522640.1:c.5014A>C XP_011520942.1:p.Ser1672Arg
XM_011522640.2:c.5014A>C XP_011520942.1:p.Ser1672Arg
XM_011522641.1:c.4783A>C XP_011520943.1:p.Ser1595Arg
XM_017023615.1:c.5089A>C XP_016879104.1:p.Ser1697Arg
XM_017023616.1:c.4960A>C XP_016879105.1:p.Ser1654Arg
XM_017023617.1:c.5056A>C XP_016879106.1:p.Ser1686Arg
XM_017023618.1:c.3802A>C XP_016879107.1:p.Ser1268Arg
XM_024450413.1:c.4891A>C XP_024306181.1:p.Ser1631Arg