Canonical Allele Identifier: CA16622078
Community Standard Title: NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2088518G>A , CM000678.2:g.2088518G>A GRCh38
NC_000016.9:g.2138519G>A , CM000678.1:g.2138519G>A GRCh37
NC_000016.8:g.2078520G>A NCBI36
NG_005895.1:g.44213G>A , LRG_487:g.44213G>A
NG_008617.1:g.54703C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.5332G>A MANE Select NP_000539.2:p.Ala1778Thr
ENST00000219476.9:c.5332G>A MANE Select ENSP00000219476.3:p.Ala1778Thr
NM_000548.3:c.5332G>A , LRG_487t1:c.5332G>A NP_000539.2:p.Ala1778Thr
NM_000548.4:c.5332G>A NP_000539.2:p.Ala1778Thr
NM_001077183.1:c.5131G>A NP_001070651.1:p.Ala1711Thr
NM_001077183.2:c.5131G>A NP_001070651.1:p.Ala1711Thr
NM_001077183.3:c.5131G>A NP_001070651.1:p.Ala1711Thr
NM_001114382.1:c.5263G>A NP_001107854.1:p.Ala1755Thr
NM_001114382.2:c.5263G>A NP_001107854.1:p.Ala1755Thr
NM_001114382.3:c.5263G>A NP_001107854.1:p.Ala1755Thr
NM_001318827.1:c.5023G>A NP_001305756.1:p.Ala1675Thr
NM_001318827.2:c.5023G>A NP_001305756.1:p.Ala1675Thr
NM_001318829.1:c.4987G>A NP_001305758.1:p.Ala1663Thr
NM_001318829.2:c.4987G>A NP_001305758.1:p.Ala1663Thr
NM_001318831.1:c.4600G>A NP_001305760.1:p.Ala1534Thr
NM_001318831.2:c.4600G>A NP_001305760.1:p.Ala1534Thr
NM_001318832.1:c.5164G>A NP_001305761.1:p.Ala1722Thr
NM_001318832.2:c.5164G>A NP_001305761.1:p.Ala1722Thr
NM_001363528.1:c.5134G>A NP_001350457.1:p.Ala1712Thr
NM_001363528.2:c.5134G>A NP_001350457.1:p.Ala1712Thr
NM_001370404.1:c.5200G>A NP_001357333.1:p.Ala1734Thr
NM_001370405.1:c.5191G>A NP_001357334.1:p.Ala1731Thr
NM_021055.2:c.5203G>A NP_066399.2:p.Ala1735Thr
NM_021055.3:c.5203G>A NP_066399.2:p.Ala1735Thr
ENST00000219476.7:c.5332G>A ENSP00000219476.3:p.Ala1778Thr
ENST00000350773.8:c.5263G>A ENSP00000344383.4:p.Ala1755Thr
ENST00000350773.9:c.5263G>A ENSP00000344383.4:p.Ala1755Thr
ENST00000382538.10:c.4987G>A ENSP00000371978.6:p.Ala1663Thr
ENST00000401874.6:c.5131G>A ENSP00000384468.2:p.Ala1711Thr
ENST00000401874.7:c.5131G>A ENSP00000384468.2:p.Ala1711Thr
ENST00000439117.6:c.*4499G>A ENSP00000406980.2:n.*4499G>A
ENST00000439673.6:c.5023G>A ENSP00000399232.2:p.Ala1675Thr
ENST00000497886.5:n.3055G>A
ENST00000568454.5:c.5164G>A ENSP00000454487.1:p.Ala1722Thr
ENST00000568454.6:c.5164G>A ENSP00000454487.1:p.Ala1722Thr
ENST00000568566.6:c.*3681G>A ENSP00000455997.2:n.*3681G>A
ENST00000569110.1:c.1514G>A
ENST00000569110.2:c.1555G>A
ENST00000569930.1:n.2447G>A
ENST00000569930.2:n.3214G>A
ENST00000642206.2:c.5179G>A ENSP00000495146.2:p.Ala1727Thr
ENST00000642365.1:c.3986G>A
ENST00000642365.2:c.5329G>A ENSP00000495459.2:p.Ala1777Thr
ENST00000642561.1:c.5191G>A ENSP00000495099.1:p.Ala1731Thr
ENST00000642791.1:n.929G>A
ENST00000642797.1:c.5134G>A ENSP00000493846.1:p.Ala1712Thr
ENST00000642936.1:c.5200G>A ENSP00000494514.1:p.Ala1734Thr
ENST00000643088.1:c.5125G>A ENSP00000494747.1:p.Ala1709Thr
ENST00000643426.1:n.2980G>A
ENST00000643946.1:c.5257G>A ENSP00000495927.1:p.Ala1753Thr
ENST00000644043.1:c.5203G>A ENSP00000496262.1:p.Ala1735Thr
ENST00000644329.1:c.5218G>A ENSP00000496611.1:p.Ala1740Thr
ENST00000644335.1:c.5128G>A ENSP00000496317.1:p.Ala1710Thr
ENST00000644399.1:c.5253G>A
ENST00000644417.2:c.*5845G>A ENSP00000493912.2:n.*5845G>A
ENST00000645024.1:n.3416G>A
ENST00000646388.1:c.5326G>A ENSP00000495921.1:p.Ala1776Thr
ENST00000646464.2:c.*8081G>A ENSP00000496610.2:n.*8081G>A
ENST00000646634.1:n.4147G>A
ENST00000646674.1:n.2584G>A
ENST00000647042.1:n.2555G>A
ENST00000647180.1:n.2445G>A
XM_005255529.3:c.5203G>A XP_005255586.2:p.Ala1735Thr
XM_005255531.3:c.5134G>A XP_005255588.2:p.Ala1712Thr
XM_005255531.4:c.5134G>A XP_005255588.2:p.Ala1712Thr
XM_011522636.1:c.5386G>A XP_011520938.1:p.Ala1796Thr
XM_011522636.2:c.5386G>A XP_011520938.1:p.Ala1796Thr
XM_011522637.1:c.5383G>A XP_011520939.1:p.Ala1795Thr
XM_011522637.2:c.5383G>A XP_011520939.1:p.Ala1795Thr
XM_011522638.1:c.5275G>A XP_011520940.1:p.Ala1759Thr
XM_011522638.2:c.5548G>A XP_011520940.2:p.Ala1850Thr
XM_011522639.1:c.5257G>A XP_011520941.1:p.Ala1753Thr
XM_011522639.2:c.5257G>A XP_011520941.1:p.Ala1753Thr
XM_011522640.1:c.5254G>A XP_011520942.1:p.Ala1752Thr
XM_011522640.2:c.5254G>A XP_011520942.1:p.Ala1752Thr
XM_011522641.1:c.5023G>A XP_011520943.1:p.Ala1675Thr
XM_017023615.1:c.5329G>A XP_016879104.1:p.Ala1777Thr
XM_017023616.1:c.5200G>A XP_016879105.1:p.Ala1734Thr
XM_017023617.1:c.5296G>A XP_016879106.1:p.Ala1766Thr
XM_017023618.1:c.4042G>A XP_016879107.1:p.Ala1348Thr
XM_024450413.1:c.5218G>A XP_024306181.1:p.Ala1740Thr