Canonical Allele Identifier: CA319537
Community Standard Title: NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086259G>A , CM000678.2:g.2086259G>A GRCh38
NC_000016.9:g.2136260G>A , CM000678.1:g.2136260G>A GRCh37
NC_000016.8:g.2076261G>A NCBI36
NG_005895.1:g.41954G>A , LRG_487:g.41954G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4729G>A MANE Select NP_000539.2:p.Gly1577Ser
ENST00000219476.9:c.4729G>A MANE Select ENSP00000219476.3:p.Gly1577Ser
NM_000548.3:c.4729G>A , LRG_487t1:c.4729G>A NP_000539.2:p.Gly1577Ser
NM_000548.4:c.4729G>A NP_000539.2:p.Gly1577Ser
NM_001077183.1:c.4528G>A NP_001070651.1:p.Gly1510Ser
NM_001077183.2:c.4528G>A NP_001070651.1:p.Gly1510Ser
NM_001077183.3:c.4528G>A NP_001070651.1:p.Gly1510Ser
NM_001114382.1:c.4660G>A NP_001107854.1:p.Gly1554Ser
NM_001114382.2:c.4660G>A NP_001107854.1:p.Gly1554Ser
NM_001114382.3:c.4660G>A NP_001107854.1:p.Gly1554Ser
NM_001318827.1:c.4420G>A NP_001305756.1:p.Gly1474Ser
NM_001318827.2:c.4420G>A NP_001305756.1:p.Gly1474Ser
NM_001318829.1:c.4384G>A NP_001305758.1:p.Gly1462Ser
NM_001318829.2:c.4384G>A NP_001305758.1:p.Gly1462Ser
NM_001318831.1:c.3997G>A NP_001305760.1:p.Gly1333Ser
NM_001318831.2:c.3997G>A NP_001305760.1:p.Gly1333Ser
NM_001318832.1:c.4561G>A NP_001305761.1:p.Gly1521Ser
NM_001318832.2:c.4561G>A NP_001305761.1:p.Gly1521Ser
NM_001363528.1:c.4531G>A NP_001350457.1:p.Gly1511Ser
NM_001363528.2:c.4531G>A NP_001350457.1:p.Gly1511Ser
NM_001370404.1:c.4597G>A NP_001357333.1:p.Gly1533Ser
NM_001370405.1:c.4600G>A NP_001357334.1:p.Gly1534Ser
NM_021055.2:c.4600G>A NP_066399.2:p.Gly1534Ser
NM_021055.3:c.4600G>A NP_066399.2:p.Gly1534Ser
ENST00000219476.7:c.4729G>A ENSP00000219476.3:p.Gly1577Ser
ENST00000350773.8:c.4660G>A ENSP00000344383.4:p.Gly1554Ser
ENST00000350773.9:c.4660G>A ENSP00000344383.4:p.Gly1554Ser
ENST00000382538.10:c.4384G>A ENSP00000371978.6:p.Gly1462Ser
ENST00000401874.6:c.4528G>A ENSP00000384468.2:p.Gly1510Ser
ENST00000401874.7:c.4528G>A ENSP00000384468.2:p.Gly1510Ser
ENST00000439117.6:c.*3896G>A ENSP00000406980.2:n.*3896G>A
ENST00000439673.6:c.4420G>A ENSP00000399232.2:p.Gly1474Ser
ENST00000497886.5:n.2487G>A
ENST00000568454.5:c.4561G>A ENSP00000454487.1:p.Gly1521Ser
ENST00000568454.6:c.4561G>A ENSP00000454487.1:p.Gly1521Ser
ENST00000568566.6:c.*3078G>A ENSP00000455997.2:n.*3078G>A
ENST00000569110.1:c.911G>A
ENST00000569110.2:c.952G>A
ENST00000569930.1:n.1844G>A
ENST00000569930.2:n.2611G>A
ENST00000642206.2:c.4576G>A ENSP00000495146.2:p.Gly1526Ser
ENST00000642365.1:c.3383G>A
ENST00000642365.2:c.4726G>A ENSP00000495459.2:p.Gly1576Ser
ENST00000642561.1:c.4600G>A ENSP00000495099.1:p.Gly1534Ser
ENST00000642728.1:n.911G>A
ENST00000642791.1:n.326G>A
ENST00000642797.1:c.4531G>A ENSP00000493846.1:p.Gly1511Ser
ENST00000642936.1:c.4597G>A ENSP00000494514.1:p.Gly1533Ser
ENST00000643088.1:c.4522G>A ENSP00000494747.1:p.Gly1508Ser
ENST00000643177.1:n.743G>A
ENST00000643426.1:n.2377G>A
ENST00000643946.1:c.4654G>A ENSP00000495927.1:p.Gly1552Ser
ENST00000644043.1:c.4600G>A ENSP00000496262.1:p.Gly1534Ser
ENST00000644278.1:n.211G>A
ENST00000644329.1:c.4528G>A ENSP00000496611.1:p.Gly1510Ser
ENST00000644335.1:c.4525G>A ENSP00000496317.1:p.Gly1509Ser
ENST00000644399.1:c.4650G>A
ENST00000644417.2:c.*5242G>A ENSP00000493912.2:n.*5242G>A
ENST00000645024.1:n.2813G>A
ENST00000646388.1:c.4723G>A ENSP00000495921.1:p.Gly1575Ser
ENST00000646464.2:c.*7478G>A ENSP00000496610.2:n.*7478G>A
ENST00000646634.1:n.3544G>A
ENST00000646674.1:n.1981G>A
ENST00000647042.1:n.1952G>A
ENST00000647180.1:n.1842G>A
XM_005255529.3:c.4600G>A XP_005255586.2:p.Gly1534Ser
XM_005255531.3:c.4531G>A XP_005255588.2:p.Gly1511Ser
XM_005255531.4:c.4531G>A XP_005255588.2:p.Gly1511Ser
XM_011522636.1:c.4783G>A XP_011520938.1:p.Gly1595Ser
XM_011522636.2:c.4783G>A XP_011520938.1:p.Gly1595Ser
XM_011522637.1:c.4780G>A XP_011520939.1:p.Gly1594Ser
XM_011522637.2:c.4780G>A XP_011520939.1:p.Gly1594Ser
XM_011522638.1:c.4672G>A XP_011520940.1:p.Gly1558Ser
XM_011522638.2:c.4945G>A XP_011520940.2:p.Gly1649Ser
XM_011522639.1:c.4654G>A XP_011520941.1:p.Gly1552Ser
XM_011522639.2:c.4654G>A XP_011520941.1:p.Gly1552Ser
XM_011522640.1:c.4651G>A XP_011520942.1:p.Gly1551Ser
XM_011522640.2:c.4651G>A XP_011520942.1:p.Gly1551Ser
XM_011522641.1:c.4420G>A XP_011520943.1:p.Gly1474Ser
XM_017023615.1:c.4726G>A XP_016879104.1:p.Gly1576Ser
XM_017023616.1:c.4597G>A XP_016879105.1:p.Gly1533Ser
XM_017023617.1:c.4693G>A XP_016879106.1:p.Gly1565Ser
XM_017023618.1:c.3439G>A XP_016879107.1:p.Gly1147Ser
XM_024450413.1:c.4528G>A XP_024306181.1:p.Gly1510Ser