Canonical Allele Identifier: CA021398
Community Standard Title: NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086840C>T , CM000678.2:g.2086840C>T GRCh38
NC_000016.9:g.2136841C>T , CM000678.1:g.2136841C>T GRCh37
NC_000016.8:g.2076842C>T NCBI36
NG_005895.1:g.42535C>T , LRG_487:g.42535C>T
NG_008617.1:g.56381G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4958C>T MANE Select NP_000539.2:p.Ser1653Phe
ENST00000219476.9:c.4958C>T MANE Select ENSP00000219476.3:p.Ser1653Phe
NM_000548.3:c.4958C>T , LRG_487t1:c.4958C>T NP_000539.2:p.Ser1653Phe
NM_000548.4:c.4958C>T NP_000539.2:p.Ser1653Phe
NM_001077183.1:c.4757C>T NP_001070651.1:p.Ser1586Phe
NM_001077183.2:c.4757C>T NP_001070651.1:p.Ser1586Phe
NM_001077183.3:c.4757C>T NP_001070651.1:p.Ser1586Phe
NM_001114382.1:c.4889C>T NP_001107854.1:p.Ser1630Phe
NM_001114382.2:c.4889C>T NP_001107854.1:p.Ser1630Phe
NM_001114382.3:c.4889C>T NP_001107854.1:p.Ser1630Phe
NM_001318827.1:c.4649C>T NP_001305756.1:p.Ser1550Phe
NM_001318827.2:c.4649C>T NP_001305756.1:p.Ser1550Phe
NM_001318829.1:c.4613C>T NP_001305758.1:p.Ser1538Phe
NM_001318829.2:c.4613C>T NP_001305758.1:p.Ser1538Phe
NM_001318831.1:c.4226C>T NP_001305760.1:p.Ser1409Phe
NM_001318831.2:c.4226C>T NP_001305760.1:p.Ser1409Phe
NM_001318832.1:c.4790C>T NP_001305761.1:p.Ser1597Phe
NM_001318832.2:c.4790C>T NP_001305761.1:p.Ser1597Phe
NM_001363528.1:c.4760C>T NP_001350457.1:p.Ser1587Phe
NM_001363528.2:c.4760C>T NP_001350457.1:p.Ser1587Phe
NM_001370404.1:c.4826C>T NP_001357333.1:p.Ser1609Phe
NM_001370405.1:c.4829C>T NP_001357334.1:p.Ser1610Phe
NM_021055.2:c.4829C>T NP_066399.2:p.Ser1610Phe
NM_021055.3:c.4829C>T NP_066399.2:p.Ser1610Phe
ENST00000219476.7:c.4958C>T ENSP00000219476.3:p.Ser1653Phe
ENST00000350773.8:c.4889C>T ENSP00000344383.4:p.Ser1630Phe
ENST00000350773.9:c.4889C>T ENSP00000344383.4:p.Ser1630Phe
ENST00000382538.10:c.4613C>T ENSP00000371978.6:p.Ser1538Phe
ENST00000401874.6:c.4757C>T ENSP00000384468.2:p.Ser1586Phe
ENST00000401874.7:c.4757C>T ENSP00000384468.2:p.Ser1586Phe
ENST00000439117.6:c.*4125C>T ENSP00000406980.2:n.*4125C>T
ENST00000439673.6:c.4649C>T ENSP00000399232.2:p.Ser1550Phe
ENST00000497886.5:n.2681C>T
ENST00000568454.5:c.4790C>T ENSP00000454487.1:p.Ser1597Phe
ENST00000568454.6:c.4790C>T ENSP00000454487.1:p.Ser1597Phe
ENST00000568566.6:c.*3307C>T ENSP00000455997.2:n.*3307C>T
ENST00000569110.1:c.1140C>T
ENST00000569110.2:c.1181C>T
ENST00000569930.1:n.2073C>T
ENST00000569930.2:n.2840C>T
ENST00000642206.2:c.4805C>T ENSP00000495146.2:p.Ser1602Phe
ENST00000642365.1:c.3612C>T
ENST00000642365.2:c.4955C>T ENSP00000495459.2:p.Ser1652Phe
ENST00000642561.1:c.4829C>T ENSP00000495099.1:p.Ser1610Phe
ENST00000642728.1:n.1140C>T
ENST00000642791.1:n.555C>T
ENST00000642797.1:c.4760C>T ENSP00000493846.1:p.Ser1587Phe
ENST00000642936.1:c.4826C>T ENSP00000494514.1:p.Ser1609Phe
ENST00000643088.1:c.4751C>T ENSP00000494747.1:p.Ser1584Phe
ENST00000643177.1:n.972C>T
ENST00000643426.1:n.2606C>T
ENST00000643946.1:c.4883C>T ENSP00000495927.1:p.Ser1628Phe
ENST00000644043.1:c.4829C>T ENSP00000496262.1:p.Ser1610Phe
ENST00000644278.1:n.440C>T
ENST00000644329.1:c.4757C>T ENSP00000496611.1:p.Ser1586Phe
ENST00000644335.1:c.4754C>T ENSP00000496317.1:p.Ser1585Phe
ENST00000644399.1:c.4879C>T
ENST00000644417.2:c.*5471C>T ENSP00000493912.2:n.*5471C>T
ENST00000645024.1:n.3042C>T
ENST00000646388.1:c.4952C>T ENSP00000495921.1:p.Ser1651Phe
ENST00000646464.2:c.*7707C>T ENSP00000496610.2:n.*7707C>T
ENST00000646557.1:n.119C>T
ENST00000646634.1:n.3773C>T
ENST00000646674.1:n.2210C>T
ENST00000647042.1:n.2181C>T
ENST00000647180.1:n.2071C>T
XM_005255529.3:c.4829C>T XP_005255586.2:p.Ser1610Phe
XM_005255531.3:c.4760C>T XP_005255588.2:p.Ser1587Phe
XM_005255531.4:c.4760C>T XP_005255588.2:p.Ser1587Phe
XM_011522636.1:c.5012C>T XP_011520938.1:p.Ser1671Phe
XM_011522636.2:c.5012C>T XP_011520938.1:p.Ser1671Phe
XM_011522637.1:c.5009C>T XP_011520939.1:p.Ser1670Phe
XM_011522637.2:c.5009C>T XP_011520939.1:p.Ser1670Phe
XM_011522638.1:c.4901C>T XP_011520940.1:p.Ser1634Phe
XM_011522638.2:c.5174C>T XP_011520940.2:p.Ser1725Phe
XM_011522639.1:c.4883C>T XP_011520941.1:p.Ser1628Phe
XM_011522639.2:c.4883C>T XP_011520941.1:p.Ser1628Phe
XM_011522640.1:c.4880C>T XP_011520942.1:p.Ser1627Phe
XM_011522640.2:c.4880C>T XP_011520942.1:p.Ser1627Phe
XM_011522641.1:c.4649C>T XP_011520943.1:p.Ser1550Phe
XM_017023615.1:c.4955C>T XP_016879104.1:p.Ser1652Phe
XM_017023616.1:c.4826C>T XP_016879105.1:p.Ser1609Phe
XM_017023617.1:c.4922C>T XP_016879106.1:p.Ser1641Phe
XM_017023618.1:c.3668C>T XP_016879107.1:p.Ser1223Phe
XM_024450413.1:c.4757C>T XP_024306181.1:p.Ser1586Phe