Canonical Allele Identifier: CA394302321
Community Standard Title: NM_000548.5(TSC2):c.4441A>T (p.Lys1481Ter)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084663A>T , CM000678.2:g.2084663A>T GRCh38
NC_000016.9:g.2134664A>T , CM000678.1:g.2134664A>T GRCh37
NC_000016.8:g.2074665A>T NCBI36
NG_005895.1:g.40358A>T , LRG_487:g.40358A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4441A>T MANE Select NP_000539.2:p.Lys1481Ter
ENST00000219476.9:c.4441A>T MANE Select ENSP00000219476.3:p.Lys1481Ter
NM_000548.3:c.4441A>T , LRG_487t1:c.4441A>T NP_000539.2:p.Lys1481Ter
NM_000548.4:c.4441A>T NP_000539.2:p.Lys1481Ter
NM_001077183.1:c.4240A>T NP_001070651.1:p.Lys1414Ter
NM_001077183.2:c.4240A>T NP_001070651.1:p.Lys1414Ter
NM_001077183.3:c.4240A>T NP_001070651.1:p.Lys1414Ter
NM_001114382.1:c.4372A>T NP_001107854.1:p.Lys1458Ter
NM_001114382.2:c.4372A>T NP_001107854.1:p.Lys1458Ter
NM_001114382.3:c.4372A>T NP_001107854.1:p.Lys1458Ter
NM_001318827.1:c.4132A>T NP_001305756.1:p.Lys1378Ter
NM_001318827.2:c.4132A>T NP_001305756.1:p.Lys1378Ter
NM_001318829.1:c.4096A>T NP_001305758.1:p.Lys1366Ter
NM_001318829.2:c.4096A>T NP_001305758.1:p.Lys1366Ter
NM_001318831.1:c.3709A>T NP_001305760.1:p.Lys1237Ter
NM_001318831.2:c.3709A>T NP_001305760.1:p.Lys1237Ter
NM_001318832.1:c.4273A>T NP_001305761.1:p.Lys1425Ter
NM_001318832.2:c.4273A>T NP_001305761.1:p.Lys1425Ter
NM_001363528.1:c.4243A>T NP_001350457.1:p.Lys1415Ter
NM_001363528.2:c.4243A>T NP_001350457.1:p.Lys1415Ter
NM_001370404.1:c.4309A>T NP_001357333.1:p.Lys1437Ter
NM_001370405.1:c.4312A>T NP_001357334.1:p.Lys1438Ter
NM_021055.2:c.4312A>T NP_066399.2:p.Lys1438Ter
NM_021055.3:c.4312A>T NP_066399.2:p.Lys1438Ter
ENST00000219476.7:c.4441A>T ENSP00000219476.3:p.Lys1481Ter
ENST00000350773.8:c.4372A>T ENSP00000344383.4:p.Lys1458Ter
ENST00000350773.9:c.4372A>T ENSP00000344383.4:p.Lys1458Ter
ENST00000382538.10:c.4096A>T ENSP00000371978.6:p.Lys1366Ter
ENST00000401874.6:c.4240A>T ENSP00000384468.2:p.Lys1414Ter
ENST00000401874.7:c.4240A>T ENSP00000384468.2:p.Lys1414Ter
ENST00000439117.6:c.*3608A>T ENSP00000406980.2:n.*3608A>T
ENST00000439673.6:c.4132A>T ENSP00000399232.2:p.Lys1378Ter
ENST00000497886.5:n.2199A>T
ENST00000568454.5:c.4273A>T ENSP00000454487.1:p.Lys1425Ter
ENST00000568454.6:c.4273A>T ENSP00000454487.1:p.Lys1425Ter
ENST00000568566.6:c.*2790A>T ENSP00000455997.2:n.*2790A>T
ENST00000569110.1:c.623A>T
ENST00000569110.2:c.677A>T
ENST00000569930.1:n.1556A>T
ENST00000569930.2:n.2323A>T
ENST00000642206.2:c.4288A>T ENSP00000495146.2:p.Lys1430Ter
ENST00000642365.1:c.3095A>T
ENST00000642365.2:c.4438A>T ENSP00000495459.2:p.Lys1480Ter
ENST00000642561.1:c.4312A>T ENSP00000495099.1:p.Lys1438Ter
ENST00000642728.1:n.623A>T
ENST00000642797.1:c.4243A>T ENSP00000493846.1:p.Lys1415Ter
ENST00000642936.1:c.4309A>T ENSP00000494514.1:p.Lys1437Ter
ENST00000643088.1:c.4240A>T ENSP00000494747.1:p.Lys1414Ter
ENST00000643177.1:n.455A>T
ENST00000643426.1:n.2089A>T
ENST00000643946.1:c.4372A>T ENSP00000495927.1:p.Lys1458Ter
ENST00000644043.1:c.4312A>T ENSP00000496262.1:p.Lys1438Ter
ENST00000644329.1:c.4240A>T ENSP00000496611.1:p.Lys1414Ter
ENST00000644335.1:c.4243A>T ENSP00000496317.1:p.Lys1415Ter
ENST00000644399.1:c.4362A>T
ENST00000644417.2:c.*4821A>T ENSP00000493912.2:n.*4821A>T
ENST00000645024.1:n.2525A>T
ENST00000646388.1:c.4441A>T ENSP00000495921.1:p.Lys1481Ter
ENST00000646464.2:c.*7190A>T ENSP00000496610.2:n.*7190A>T
ENST00000646634.1:n.3256A>T
ENST00000646674.1:n.1693A>T
ENST00000647042.1:n.1664A>T
ENST00000647180.1:n.1554A>T
XM_005255529.3:c.4312A>T XP_005255586.2:p.Lys1438Ter
XM_005255531.3:c.4243A>T XP_005255588.2:p.Lys1415Ter
XM_005255531.4:c.4243A>T XP_005255588.2:p.Lys1415Ter
XM_011522636.1:c.4495A>T XP_011520938.1:p.Lys1499Ter
XM_011522636.2:c.4495A>T XP_011520938.1:p.Lys1499Ter
XM_011522637.1:c.4492A>T XP_011520939.1:p.Lys1498Ter
XM_011522637.2:c.4492A>T XP_011520939.1:p.Lys1498Ter
XM_011522638.1:c.4384A>T XP_011520940.1:p.Lys1462Ter
XM_011522638.2:c.4657A>T XP_011520940.2:p.Lys1553Ter
XM_011522639.1:c.4366A>T XP_011520941.1:p.Lys1456Ter
XM_011522639.2:c.4366A>T XP_011520941.1:p.Lys1456Ter
XM_011522640.1:c.4363A>T XP_011520942.1:p.Lys1455Ter
XM_011522640.2:c.4363A>T XP_011520942.1:p.Lys1455Ter
XM_011522641.1:c.4132A>T XP_011520943.1:p.Lys1378Ter
XM_017023615.1:c.4438A>T XP_016879104.1:p.Lys1480Ter
XM_017023616.1:c.4309A>T XP_016879105.1:p.Lys1437Ter
XM_017023617.1:c.4405A>T XP_016879106.1:p.Lys1469Ter
XM_017023618.1:c.3151A>T XP_016879107.1:p.Lys1051Ter
XM_024450413.1:c.4240A>T XP_024306181.1:p.Lys1414Ter