Canonical Allele Identifier: CA053013
Community Standard Title: NM_000548.5(TSC2):c.4873A>T (p.Met1625Leu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086755A>T , CM000678.2:g.2086755A>T GRCh38
NC_000016.9:g.2136756A>T , CM000678.1:g.2136756A>T GRCh37
NC_000016.8:g.2076757A>T NCBI36
NG_005895.1:g.42450A>T , LRG_487:g.42450A>T
NG_008617.1:g.56466T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4873A>T MANE Select NP_000539.2:p.Met1625Leu
ENST00000219476.9:c.4873A>T MANE Select ENSP00000219476.3:p.Met1625Leu
NM_000548.3:c.4873A>T , LRG_487t1:c.4873A>T NP_000539.2:p.Met1625Leu
NM_000548.4:c.4873A>T NP_000539.2:p.Met1625Leu
NM_001077183.1:c.4672A>T NP_001070651.1:p.Met1558Leu
NM_001077183.2:c.4672A>T NP_001070651.1:p.Met1558Leu
NM_001077183.3:c.4672A>T NP_001070651.1:p.Met1558Leu
NM_001114382.1:c.4804A>T NP_001107854.1:p.Met1602Leu
NM_001114382.2:c.4804A>T NP_001107854.1:p.Met1602Leu
NM_001114382.3:c.4804A>T NP_001107854.1:p.Met1602Leu
NM_001318827.1:c.4564A>T NP_001305756.1:p.Met1522Leu
NM_001318827.2:c.4564A>T NP_001305756.1:p.Met1522Leu
NM_001318829.1:c.4528A>T NP_001305758.1:p.Met1510Leu
NM_001318829.2:c.4528A>T NP_001305758.1:p.Met1510Leu
NM_001318831.1:c.4141A>T NP_001305760.1:p.Met1381Leu
NM_001318831.2:c.4141A>T NP_001305760.1:p.Met1381Leu
NM_001318832.1:c.4705A>T NP_001305761.1:p.Met1569Leu
NM_001318832.2:c.4705A>T NP_001305761.1:p.Met1569Leu
NM_001363528.1:c.4675A>T NP_001350457.1:p.Met1559Leu
NM_001363528.2:c.4675A>T NP_001350457.1:p.Met1559Leu
NM_001370404.1:c.4741A>T NP_001357333.1:p.Met1581Leu
NM_001370405.1:c.4744A>T NP_001357334.1:p.Met1582Leu
NM_021055.2:c.4744A>T NP_066399.2:p.Met1582Leu
NM_021055.3:c.4744A>T NP_066399.2:p.Met1582Leu
ENST00000219476.7:c.4873A>T ENSP00000219476.3:p.Met1625Leu
ENST00000350773.8:c.4804A>T ENSP00000344383.4:p.Met1602Leu
ENST00000350773.9:c.4804A>T ENSP00000344383.4:p.Met1602Leu
ENST00000382538.10:c.4528A>T ENSP00000371978.6:p.Met1510Leu
ENST00000401874.6:c.4672A>T ENSP00000384468.2:p.Met1558Leu
ENST00000401874.7:c.4672A>T ENSP00000384468.2:p.Met1558Leu
ENST00000439117.6:c.*4040A>T ENSP00000406980.2:n.*4040A>T
ENST00000439673.6:c.4564A>T ENSP00000399232.2:p.Met1522Leu
ENST00000497886.5:n.2608-12A>T
ENST00000568454.5:c.4705A>T ENSP00000454487.1:p.Met1569Leu
ENST00000568454.6:c.4705A>T ENSP00000454487.1:p.Met1569Leu
ENST00000568566.6:c.*3222A>T ENSP00000455997.2:n.*3222A>T
ENST00000569110.1:c.1055A>T
ENST00000569110.2:c.1096A>T
ENST00000569930.1:n.1988A>T
ENST00000569930.2:n.2755A>T
ENST00000642206.2:c.4720A>T ENSP00000495146.2:p.Met1574Leu
ENST00000642365.1:c.3527A>T
ENST00000642365.2:c.4870A>T ENSP00000495459.2:p.Met1624Leu
ENST00000642561.1:c.4744A>T ENSP00000495099.1:p.Met1582Leu
ENST00000642728.1:n.1055A>T
ENST00000642791.1:n.470A>T
ENST00000642797.1:c.4675A>T ENSP00000493846.1:p.Met1559Leu
ENST00000642936.1:c.4741A>T ENSP00000494514.1:p.Met1581Leu
ENST00000643088.1:c.4666A>T ENSP00000494747.1:p.Met1556Leu
ENST00000643177.1:n.887A>T
ENST00000643426.1:n.2521A>T
ENST00000643946.1:c.4798A>T ENSP00000495927.1:p.Met1600Leu
ENST00000644043.1:c.4744A>T ENSP00000496262.1:p.Met1582Leu
ENST00000644278.1:n.355A>T
ENST00000644329.1:c.4672A>T ENSP00000496611.1:p.Met1558Leu
ENST00000644335.1:c.4669A>T ENSP00000496317.1:p.Met1557Leu
ENST00000644399.1:c.4794A>T
ENST00000644417.2:c.*5386A>T ENSP00000493912.2:n.*5386A>T
ENST00000645024.1:n.2957A>T
ENST00000646388.1:c.4867A>T ENSP00000495921.1:p.Met1623Leu
ENST00000646464.2:c.*7622A>T ENSP00000496610.2:n.*7622A>T
ENST00000646557.1:n.34A>T
ENST00000646634.1:n.3688A>T
ENST00000646674.1:n.2125A>T
ENST00000647042.1:n.2096A>T
ENST00000647180.1:n.1986A>T
XM_005255529.3:c.4744A>T XP_005255586.2:p.Met1582Leu
XM_005255531.3:c.4675A>T XP_005255588.2:p.Met1559Leu
XM_005255531.4:c.4675A>T XP_005255588.2:p.Met1559Leu
XM_011522636.1:c.4927A>T XP_011520938.1:p.Met1643Leu
XM_011522636.2:c.4927A>T XP_011520938.1:p.Met1643Leu
XM_011522637.1:c.4924A>T XP_011520939.1:p.Met1642Leu
XM_011522637.2:c.4924A>T XP_011520939.1:p.Met1642Leu
XM_011522638.1:c.4816A>T XP_011520940.1:p.Met1606Leu
XM_011522638.2:c.5089A>T XP_011520940.2:p.Met1697Leu
XM_011522639.1:c.4798A>T XP_011520941.1:p.Met1600Leu
XM_011522639.2:c.4798A>T XP_011520941.1:p.Met1600Leu
XM_011522640.1:c.4795A>T XP_011520942.1:p.Met1599Leu
XM_011522640.2:c.4795A>T XP_011520942.1:p.Met1599Leu
XM_011522641.1:c.4564A>T XP_011520943.1:p.Met1522Leu
XM_017023615.1:c.4870A>T XP_016879104.1:p.Met1624Leu
XM_017023616.1:c.4741A>T XP_016879105.1:p.Met1581Leu
XM_017023617.1:c.4837A>T XP_016879106.1:p.Met1613Leu
XM_017023618.1:c.3583A>T XP_016879107.1:p.Met1195Leu
XM_024450413.1:c.4672A>T XP_024306181.1:p.Met1558Leu