Canonical Allele Identifier: CA020919
Community Standard Title: NM_000548.5(TSC2):c.4700G>T (p.Gly1567Val)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086230G>T , CM000678.2:g.2086230G>T GRCh38
NC_000016.9:g.2136231G>T , CM000678.1:g.2136231G>T GRCh37
NC_000016.8:g.2076232G>T NCBI36
NG_005895.1:g.41925G>T , LRG_487:g.41925G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4700G>T MANE Select NP_000539.2:p.Gly1567Val
ENST00000219476.9:c.4700G>T MANE Select ENSP00000219476.3:p.Gly1567Val
NM_000548.3:c.4700G>T , LRG_487t1:c.4700G>T NP_000539.2:p.Gly1567Val
NM_000548.4:c.4700G>T NP_000539.2:p.Gly1567Val
NM_001077183.1:c.4499G>T NP_001070651.1:p.Gly1500Val
NM_001077183.2:c.4499G>T NP_001070651.1:p.Gly1500Val
NM_001077183.3:c.4499G>T NP_001070651.1:p.Gly1500Val
NM_001114382.1:c.4631G>T NP_001107854.1:p.Gly1544Val
NM_001114382.2:c.4631G>T NP_001107854.1:p.Gly1544Val
NM_001114382.3:c.4631G>T NP_001107854.1:p.Gly1544Val
NM_001318827.1:c.4391G>T NP_001305756.1:p.Gly1464Val
NM_001318827.2:c.4391G>T NP_001305756.1:p.Gly1464Val
NM_001318829.1:c.4355G>T NP_001305758.1:p.Gly1452Val
NM_001318829.2:c.4355G>T NP_001305758.1:p.Gly1452Val
NM_001318831.1:c.3968G>T NP_001305760.1:p.Gly1323Val
NM_001318831.2:c.3968G>T NP_001305760.1:p.Gly1323Val
NM_001318832.1:c.4532G>T NP_001305761.1:p.Gly1511Val
NM_001318832.2:c.4532G>T NP_001305761.1:p.Gly1511Val
NM_001363528.1:c.4502G>T NP_001350457.1:p.Gly1501Val
NM_001363528.2:c.4502G>T NP_001350457.1:p.Gly1501Val
NM_001370404.1:c.4568G>T NP_001357333.1:p.Gly1523Val
NM_001370405.1:c.4571G>T NP_001357334.1:p.Gly1524Val
NM_021055.2:c.4571G>T NP_066399.2:p.Gly1524Val
NM_021055.3:c.4571G>T NP_066399.2:p.Gly1524Val
ENST00000219476.7:c.4700G>T ENSP00000219476.3:p.Gly1567Val
ENST00000350773.8:c.4631G>T ENSP00000344383.4:p.Gly1544Val
ENST00000350773.9:c.4631G>T ENSP00000344383.4:p.Gly1544Val
ENST00000382538.10:c.4355G>T ENSP00000371978.6:p.Gly1452Val
ENST00000401874.6:c.4499G>T ENSP00000384468.2:p.Gly1500Val
ENST00000401874.7:c.4499G>T ENSP00000384468.2:p.Gly1500Val
ENST00000439117.6:c.*3867G>T ENSP00000406980.2:n.*3867G>T
ENST00000439673.6:c.4391G>T ENSP00000399232.2:p.Gly1464Val
ENST00000497886.5:n.2458G>T
ENST00000568454.5:c.4532G>T ENSP00000454487.1:p.Gly1511Val
ENST00000568454.6:c.4532G>T ENSP00000454487.1:p.Gly1511Val
ENST00000568566.6:c.*3049G>T ENSP00000455997.2:n.*3049G>T
ENST00000569110.1:c.882G>T
ENST00000569110.2:c.923G>T
ENST00000569930.1:n.1815G>T
ENST00000569930.2:n.2582G>T
ENST00000642206.2:c.4547G>T ENSP00000495146.2:p.Gly1516Val
ENST00000642365.1:c.3354G>T
ENST00000642365.2:c.4697G>T ENSP00000495459.2:p.Gly1566Val
ENST00000642561.1:c.4571G>T ENSP00000495099.1:p.Gly1524Val
ENST00000642728.1:n.882G>T
ENST00000642791.1:n.297G>T
ENST00000642797.1:c.4502G>T ENSP00000493846.1:p.Gly1501Val
ENST00000642936.1:c.4568G>T ENSP00000494514.1:p.Gly1523Val
ENST00000643088.1:c.4493G>T ENSP00000494747.1:p.Gly1498Val
ENST00000643177.1:n.714G>T
ENST00000643426.1:n.2348G>T
ENST00000643946.1:c.4625G>T ENSP00000495927.1:p.Gly1542Val
ENST00000644043.1:c.4571G>T ENSP00000496262.1:p.Gly1524Val
ENST00000644278.1:n.182G>T
ENST00000644329.1:c.4499G>T ENSP00000496611.1:p.Gly1500Val
ENST00000644335.1:c.4496G>T ENSP00000496317.1:p.Gly1499Val
ENST00000644399.1:c.4621G>T
ENST00000644417.2:c.*5213G>T ENSP00000493912.2:n.*5213G>T
ENST00000645024.1:n.2784G>T
ENST00000646388.1:c.4694G>T ENSP00000495921.1:p.Gly1565Val
ENST00000646464.2:c.*7449G>T ENSP00000496610.2:n.*7449G>T
ENST00000646634.1:n.3515G>T
ENST00000646674.1:n.1952G>T
ENST00000647042.1:n.1923G>T
ENST00000647180.1:n.1813G>T
XM_005255529.3:c.4571G>T XP_005255586.2:p.Gly1524Val
XM_005255531.3:c.4502G>T XP_005255588.2:p.Gly1501Val
XM_005255531.4:c.4502G>T XP_005255588.2:p.Gly1501Val
XM_011522636.1:c.4754G>T XP_011520938.1:p.Gly1585Val
XM_011522636.2:c.4754G>T XP_011520938.1:p.Gly1585Val
XM_011522637.1:c.4751G>T XP_011520939.1:p.Gly1584Val
XM_011522637.2:c.4751G>T XP_011520939.1:p.Gly1584Val
XM_011522638.1:c.4643G>T XP_011520940.1:p.Gly1548Val
XM_011522638.2:c.4916G>T XP_011520940.2:p.Gly1639Val
XM_011522639.1:c.4625G>T XP_011520941.1:p.Gly1542Val
XM_011522639.2:c.4625G>T XP_011520941.1:p.Gly1542Val
XM_011522640.1:c.4622G>T XP_011520942.1:p.Gly1541Val
XM_011522640.2:c.4622G>T XP_011520942.1:p.Gly1541Val
XM_011522641.1:c.4391G>T XP_011520943.1:p.Gly1464Val
XM_017023615.1:c.4697G>T XP_016879104.1:p.Gly1566Val
XM_017023616.1:c.4568G>T XP_016879105.1:p.Gly1523Val
XM_017023617.1:c.4664G>T XP_016879106.1:p.Gly1555Val
XM_017023618.1:c.3410G>T XP_016879107.1:p.Gly1137Val
XM_024450413.1:c.4499G>T XP_024306181.1:p.Gly1500Val