Canonical Allele Identifier: CA394316159
Community Standard Title: NM_000548.5(TSC2):c.5401G>A (p.Glu1801Lys)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088587G>A , CM000678.2:g.2088587G>A GRCh38
NC_000016.9:g.2138588G>A , CM000678.1:g.2138588G>A GRCh37
NC_000016.8:g.2078589G>A NCBI36
NG_005895.1:g.44282G>A , LRG_487:g.44282G>A
NG_008617.1:g.54634C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5401G>A MANE Select NP_000539.2:p.Glu1801Lys
ENST00000219476.9:c.5401G>A MANE Select ENSP00000219476.3:p.Glu1801Lys
NM_000548.3:c.5401G>A , LRG_487t1:c.5401G>A NP_000539.2:p.Glu1801Lys
NM_000548.4:c.5401G>A NP_000539.2:p.Glu1801Lys
NM_001077183.1:c.5200G>A NP_001070651.1:p.Glu1734Lys
NM_001077183.2:c.5200G>A NP_001070651.1:p.Glu1734Lys
NM_001077183.3:c.5200G>A NP_001070651.1:p.Glu1734Lys
NM_001114382.1:c.5332G>A NP_001107854.1:p.Glu1778Lys
NM_001114382.2:c.5332G>A NP_001107854.1:p.Glu1778Lys
NM_001114382.3:c.5332G>A NP_001107854.1:p.Glu1778Lys
NM_001318827.1:c.5092G>A NP_001305756.1:p.Glu1698Lys
NM_001318827.2:c.5092G>A NP_001305756.1:p.Glu1698Lys
NM_001318829.1:c.5056G>A NP_001305758.1:p.Glu1686Lys
NM_001318829.2:c.5056G>A NP_001305758.1:p.Glu1686Lys
NM_001318831.1:c.4669G>A NP_001305760.1:p.Glu1557Lys
NM_001318831.2:c.4669G>A NP_001305760.1:p.Glu1557Lys
NM_001318832.1:c.5233G>A NP_001305761.1:p.Glu1745Lys
NM_001318832.2:c.5233G>A NP_001305761.1:p.Glu1745Lys
NM_001363528.1:c.5203G>A NP_001350457.1:p.Glu1735Lys
NM_001363528.2:c.5203G>A NP_001350457.1:p.Glu1735Lys
NM_001370404.1:c.5269G>A NP_001357333.1:p.Glu1757Lys
NM_001370405.1:c.5260G>A NP_001357334.1:p.Glu1754Lys
NM_021055.2:c.5272G>A NP_066399.2:p.Glu1758Lys
NM_021055.3:c.5272G>A NP_066399.2:p.Glu1758Lys
ENST00000219476.7:c.5401G>A ENSP00000219476.3:p.Glu1801Lys
ENST00000350773.8:c.5332G>A ENSP00000344383.4:p.Glu1778Lys
ENST00000350773.9:c.5332G>A ENSP00000344383.4:p.Glu1778Lys
ENST00000382538.10:c.5056G>A ENSP00000371978.6:p.Glu1686Lys
ENST00000401874.6:c.5200G>A ENSP00000384468.2:p.Glu1734Lys
ENST00000401874.7:c.5200G>A ENSP00000384468.2:p.Glu1734Lys
ENST00000439117.6:c.*4568G>A ENSP00000406980.2:n.*4568G>A
ENST00000439673.6:c.5092G>A ENSP00000399232.2:p.Glu1698Lys
ENST00000497886.5:n.3124G>A
ENST00000568454.5:c.5233G>A ENSP00000454487.1:p.Glu1745Lys
ENST00000568454.6:c.5233G>A ENSP00000454487.1:p.Glu1745Lys
ENST00000568566.6:c.*3750G>A ENSP00000455997.2:n.*3750G>A
ENST00000569110.1:c.1583G>A
ENST00000569110.2:c.1624G>A
ENST00000569930.1:n.2516G>A
ENST00000569930.2:n.3283G>A
ENST00000642206.2:c.5248G>A ENSP00000495146.2:p.Glu1750Lys
ENST00000642365.1:c.4055G>A
ENST00000642365.2:c.5398G>A ENSP00000495459.2:p.Glu1800Lys
ENST00000642561.1:c.5260G>A ENSP00000495099.1:p.Glu1754Lys
ENST00000642791.1:n.998G>A
ENST00000642797.1:c.5203G>A ENSP00000493846.1:p.Glu1735Lys
ENST00000642936.1:c.5269G>A ENSP00000494514.1:p.Glu1757Lys
ENST00000643088.1:c.5194G>A ENSP00000494747.1:p.Glu1732Lys
ENST00000643426.1:n.3049G>A
ENST00000643946.1:c.5326G>A ENSP00000495927.1:p.Glu1776Lys
ENST00000644043.1:c.5272G>A ENSP00000496262.1:p.Glu1758Lys
ENST00000644329.1:c.5287G>A ENSP00000496611.1:p.Glu1763Lys
ENST00000644335.1:c.5197G>A ENSP00000496317.1:p.Glu1733Lys
ENST00000644399.1:c.5322G>A
ENST00000644417.2:c.*5914G>A ENSP00000493912.2:n.*5914G>A
ENST00000646388.1:c.5395G>A ENSP00000495921.1:p.Glu1799Lys
ENST00000646464.2:c.*8150G>A ENSP00000496610.2:n.*8150G>A
ENST00000646634.1:n.4216G>A
ENST00000646674.1:n.2653G>A
ENST00000647042.1:n.2624G>A
ENST00000647180.1:n.2514G>A
XM_005255529.3:c.5272G>A XP_005255586.2:p.Glu1758Lys
XM_005255531.3:c.5203G>A XP_005255588.2:p.Glu1735Lys
XM_005255531.4:c.5203G>A XP_005255588.2:p.Glu1735Lys
XM_011522636.1:c.5455G>A XP_011520938.1:p.Glu1819Lys
XM_011522636.2:c.5455G>A XP_011520938.1:p.Glu1819Lys
XM_011522637.1:c.5452G>A XP_011520939.1:p.Glu1818Lys
XM_011522637.2:c.5452G>A XP_011520939.1:p.Glu1818Lys
XM_011522638.1:c.5344G>A XP_011520940.1:p.Glu1782Lys
XM_011522638.2:c.5617G>A XP_011520940.2:p.Glu1873Lys
XM_011522639.1:c.5326G>A XP_011520941.1:p.Glu1776Lys
XM_011522639.2:c.5326G>A XP_011520941.1:p.Glu1776Lys
XM_011522640.1:c.5323G>A XP_011520942.1:p.Glu1775Lys
XM_011522640.2:c.5323G>A XP_011520942.1:p.Glu1775Lys
XM_011522641.1:c.5092G>A XP_011520943.1:p.Glu1698Lys
XM_017023615.1:c.5398G>A XP_016879104.1:p.Glu1800Lys
XM_017023616.1:c.5269G>A XP_016879105.1:p.Glu1757Lys
XM_017023617.1:c.5365G>A XP_016879106.1:p.Glu1789Lys
XM_017023618.1:c.4111G>A XP_016879107.1:p.Glu1371Lys
XM_024450413.1:c.5287G>A XP_024306181.1:p.Glu1763Lys