Canonical Allele Identifier: CA021705
Community Standard Title: NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088073C>A , CM000678.2:g.2088073C>A GRCh38
NC_000016.9:g.2138074C>A , CM000678.1:g.2138074C>A GRCh37
NC_000016.8:g.2078075C>A NCBI36
NG_005895.1:g.43768C>A , LRG_487:g.43768C>A
NG_008617.1:g.55148G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5094C>A MANE Select NP_000539.2:p.Ser1698Arg
ENST00000219476.9:c.5094C>A MANE Select ENSP00000219476.3:p.Ser1698Arg
NM_000548.3:c.5094C>A , LRG_487t1:c.5094C>A NP_000539.2:p.Ser1698Arg
NM_000548.4:c.5094C>A NP_000539.2:p.Ser1698Arg
NM_001077183.1:c.4893C>A NP_001070651.1:p.Ser1631Arg
NM_001077183.2:c.4893C>A NP_001070651.1:p.Ser1631Arg
NM_001077183.3:c.4893C>A NP_001070651.1:p.Ser1631Arg
NM_001114382.1:c.5025C>A NP_001107854.1:p.Ser1675Arg
NM_001114382.2:c.5025C>A NP_001107854.1:p.Ser1675Arg
NM_001114382.3:c.5025C>A NP_001107854.1:p.Ser1675Arg
NM_001318827.1:c.4785C>A NP_001305756.1:p.Ser1595Arg
NM_001318827.2:c.4785C>A NP_001305756.1:p.Ser1595Arg
NM_001318829.1:c.4749C>A NP_001305758.1:p.Ser1583Arg
NM_001318829.2:c.4749C>A NP_001305758.1:p.Ser1583Arg
NM_001318831.1:c.4362C>A NP_001305760.1:p.Ser1454Arg
NM_001318831.2:c.4362C>A NP_001305760.1:p.Ser1454Arg
NM_001318832.1:c.4926C>A NP_001305761.1:p.Ser1642Arg
NM_001318832.2:c.4926C>A NP_001305761.1:p.Ser1642Arg
NM_001363528.1:c.4896C>A NP_001350457.1:p.Ser1632Arg
NM_001363528.2:c.4896C>A NP_001350457.1:p.Ser1632Arg
NM_001370404.1:c.4962C>A NP_001357333.1:p.Ser1654Arg
NM_001370405.1:c.4965C>A NP_001357334.1:p.Ser1655Arg
NM_021055.2:c.4965C>A NP_066399.2:p.Ser1655Arg
NM_021055.3:c.4965C>A NP_066399.2:p.Ser1655Arg
ENST00000219476.7:c.5094C>A ENSP00000219476.3:p.Ser1698Arg
ENST00000350773.8:c.5025C>A ENSP00000344383.4:p.Ser1675Arg
ENST00000350773.9:c.5025C>A ENSP00000344383.4:p.Ser1675Arg
ENST00000382538.10:c.4749C>A ENSP00000371978.6:p.Ser1583Arg
ENST00000401874.6:c.4893C>A ENSP00000384468.2:p.Ser1631Arg
ENST00000401874.7:c.4893C>A ENSP00000384468.2:p.Ser1631Arg
ENST00000439117.6:c.*4261C>A ENSP00000406980.2:n.*4261C>A
ENST00000439673.6:c.4785C>A ENSP00000399232.2:p.Ser1595Arg
ENST00000497886.5:n.2817C>A
ENST00000568454.5:c.4926C>A ENSP00000454487.1:p.Ser1642Arg
ENST00000568454.6:c.4926C>A ENSP00000454487.1:p.Ser1642Arg
ENST00000568566.6:c.*3443C>A ENSP00000455997.2:n.*3443C>A
ENST00000569110.1:c.1276C>A
ENST00000569110.2:c.1317C>A
ENST00000569930.1:n.2209C>A
ENST00000569930.2:n.2976C>A
ENST00000642206.2:c.4941C>A ENSP00000495146.2:p.Ser1647Arg
ENST00000642365.1:c.3748C>A
ENST00000642365.2:c.5091C>A ENSP00000495459.2:p.Ser1697Arg
ENST00000642561.1:c.4965C>A ENSP00000495099.1:p.Ser1655Arg
ENST00000642791.1:n.691C>A
ENST00000642797.1:c.4896C>A ENSP00000493846.1:p.Ser1632Arg
ENST00000642936.1:c.4962C>A ENSP00000494514.1:p.Ser1654Arg
ENST00000643088.1:c.4887C>A ENSP00000494747.1:p.Ser1629Arg
ENST00000643426.1:n.2742C>A
ENST00000643946.1:c.5019C>A ENSP00000495927.1:p.Ser1673Arg
ENST00000644043.1:c.4965C>A ENSP00000496262.1:p.Ser1655Arg
ENST00000644329.1:c.4893C>A ENSP00000496611.1:p.Ser1631Arg
ENST00000644335.1:c.4890C>A ENSP00000496317.1:p.Ser1630Arg
ENST00000644399.1:c.5015C>A
ENST00000644417.2:c.*5607C>A ENSP00000493912.2:n.*5607C>A
ENST00000645024.1:n.3178C>A
ENST00000646388.1:c.5088C>A ENSP00000495921.1:p.Ser1696Arg
ENST00000646464.2:c.*7843C>A ENSP00000496610.2:n.*7843C>A
ENST00000646634.1:n.3909C>A
ENST00000646674.1:n.2346C>A
ENST00000647042.1:n.2317C>A
ENST00000647180.1:n.2207C>A
XM_005255529.3:c.4965C>A XP_005255586.2:p.Ser1655Arg
XM_005255531.3:c.4896C>A XP_005255588.2:p.Ser1632Arg
XM_005255531.4:c.4896C>A XP_005255588.2:p.Ser1632Arg
XM_011522636.1:c.5148C>A XP_011520938.1:p.Ser1716Arg
XM_011522636.2:c.5148C>A XP_011520938.1:p.Ser1716Arg
XM_011522637.1:c.5145C>A XP_011520939.1:p.Ser1715Arg
XM_011522637.2:c.5145C>A XP_011520939.1:p.Ser1715Arg
XM_011522638.1:c.5037C>A XP_011520940.1:p.Ser1679Arg
XM_011522638.2:c.5310C>A XP_011520940.2:p.Ser1770Arg
XM_011522639.1:c.5019C>A XP_011520941.1:p.Ser1673Arg
XM_011522639.2:c.5019C>A XP_011520941.1:p.Ser1673Arg
XM_011522640.1:c.5016C>A XP_011520942.1:p.Ser1672Arg
XM_011522640.2:c.5016C>A XP_011520942.1:p.Ser1672Arg
XM_011522641.1:c.4785C>A XP_011520943.1:p.Ser1595Arg
XM_017023615.1:c.5091C>A XP_016879104.1:p.Ser1697Arg
XM_017023616.1:c.4962C>A XP_016879105.1:p.Ser1654Arg
XM_017023617.1:c.5058C>A XP_016879106.1:p.Ser1686Arg
XM_017023618.1:c.3804C>A XP_016879107.1:p.Ser1268Arg
XM_024450413.1:c.4893C>A XP_024306181.1:p.Ser1631Arg