Canonical Allele Identifier: CA394299395
Community Standard Title: NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084291A>C , CM000678.2:g.2084291A>C GRCh38
NC_000016.9:g.2134292A>C , CM000678.1:g.2134292A>C GRCh37
NC_000016.8:g.2074293A>C NCBI36
NG_005895.1:g.39986A>C , LRG_487:g.39986A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4069A>C MANE Select NP_000539.2:p.Ile1357Leu
ENST00000219476.9:c.4069A>C MANE Select ENSP00000219476.3:p.Ile1357Leu
NM_000548.3:c.4069A>C , LRG_487t1:c.4069A>C NP_000539.2:p.Ile1357Leu
NM_000548.4:c.4069A>C NP_000539.2:p.Ile1357Leu
NM_001077183.1:c.3868A>C NP_001070651.1:p.Ile1290Leu
NM_001077183.2:c.3868A>C NP_001070651.1:p.Ile1290Leu
NM_001077183.3:c.3868A>C NP_001070651.1:p.Ile1290Leu
NM_001114382.1:c.4000A>C NP_001107854.1:p.Ile1334Leu
NM_001114382.2:c.4000A>C NP_001107854.1:p.Ile1334Leu
NM_001114382.3:c.4000A>C NP_001107854.1:p.Ile1334Leu
NM_001318827.1:c.3760A>C NP_001305756.1:p.Ile1254Leu
NM_001318827.2:c.3760A>C NP_001305756.1:p.Ile1254Leu
NM_001318829.1:c.3724A>C NP_001305758.1:p.Ile1242Leu
NM_001318829.2:c.3724A>C NP_001305758.1:p.Ile1242Leu
NM_001318831.1:c.3337A>C NP_001305760.1:p.Ile1113Leu
NM_001318831.2:c.3337A>C NP_001305760.1:p.Ile1113Leu
NM_001318832.1:c.3901A>C NP_001305761.1:p.Ile1301Leu
NM_001318832.2:c.3901A>C NP_001305761.1:p.Ile1301Leu
NM_001363528.1:c.3871A>C NP_001350457.1:p.Ile1291Leu
NM_001363528.2:c.3871A>C NP_001350457.1:p.Ile1291Leu
NM_001370404.1:c.3937A>C NP_001357333.1:p.Ile1313Leu
NM_001370405.1:c.3940A>C NP_001357334.1:p.Ile1314Leu
NM_021055.2:c.3940A>C NP_066399.2:p.Ile1314Leu
NM_021055.3:c.3940A>C NP_066399.2:p.Ile1314Leu
ENST00000219476.7:c.4069A>C ENSP00000219476.3:p.Ile1357Leu
ENST00000350773.8:c.4000A>C ENSP00000344383.4:p.Ile1334Leu
ENST00000350773.9:c.4000A>C ENSP00000344383.4:p.Ile1334Leu
ENST00000382538.10:c.3724A>C ENSP00000371978.6:p.Ile1242Leu
ENST00000401874.6:c.3868A>C ENSP00000384468.2:p.Ile1290Leu
ENST00000401874.7:c.3868A>C ENSP00000384468.2:p.Ile1290Leu
ENST00000439117.6:c.*3236A>C ENSP00000406980.2:n.*3236A>C
ENST00000439673.6:c.3760A>C ENSP00000399232.2:p.Ile1254Leu
ENST00000497886.5:n.1827A>C
ENST00000568454.5:c.3901A>C ENSP00000454487.1:p.Ile1301Leu
ENST00000568454.6:c.3901A>C ENSP00000454487.1:p.Ile1301Leu
ENST00000568566.6:c.*2418A>C ENSP00000455997.2:n.*2418A>C
ENST00000569110.1:c.251A>C
ENST00000569110.2:c.305A>C
ENST00000569930.1:n.1184A>C
ENST00000569930.2:n.1951A>C
ENST00000642206.2:c.3916A>C ENSP00000495146.2:p.Ile1306Leu
ENST00000642365.1:c.2723A>C
ENST00000642365.2:c.4066A>C ENSP00000495459.2:p.Ile1356Leu
ENST00000642561.1:c.3940A>C ENSP00000495099.1:p.Ile1314Leu
ENST00000642728.1:n.251A>C
ENST00000642797.1:c.3871A>C ENSP00000493846.1:p.Ile1291Leu
ENST00000642936.1:c.3937A>C ENSP00000494514.1:p.Ile1313Leu
ENST00000643088.1:c.3868A>C ENSP00000494747.1:p.Ile1290Leu
ENST00000643177.1:n.83A>C
ENST00000643426.1:n.1717A>C
ENST00000643533.1:n.510A>C
ENST00000643946.1:c.4000A>C ENSP00000495927.1:p.Ile1334Leu
ENST00000644043.1:c.3940A>C ENSP00000496262.1:p.Ile1314Leu
ENST00000644329.1:c.3868A>C ENSP00000496611.1:p.Ile1290Leu
ENST00000644335.1:c.3871A>C ENSP00000496317.1:p.Ile1291Leu
ENST00000644399.1:c.3990A>C
ENST00000644417.2:c.*4449A>C ENSP00000493912.2:n.*4449A>C
ENST00000645024.1:n.2153A>C
ENST00000645186.1:c.312A>C
ENST00000646388.1:c.4069A>C ENSP00000495921.1:p.Ile1357Leu
ENST00000646464.2:c.*6818A>C ENSP00000496610.2:n.*6818A>C
ENST00000646634.1:n.2884A>C
ENST00000646674.1:n.1321A>C
ENST00000647042.1:n.1292A>C
ENST00000647180.1:n.1182A>C
XM_005255529.3:c.3940A>C XP_005255586.2:p.Ile1314Leu
XM_005255531.3:c.3871A>C XP_005255588.2:p.Ile1291Leu
XM_005255531.4:c.3871A>C XP_005255588.2:p.Ile1291Leu
XM_011522636.1:c.4123A>C XP_011520938.1:p.Ile1375Leu
XM_011522636.2:c.4123A>C XP_011520938.1:p.Ile1375Leu
XM_011522637.1:c.4120A>C XP_011520939.1:p.Ile1374Leu
XM_011522637.2:c.4120A>C XP_011520939.1:p.Ile1374Leu
XM_011522638.1:c.4012A>C XP_011520940.1:p.Ile1338Leu
XM_011522638.2:c.4285A>C XP_011520940.2:p.Ile1429Leu
XM_011522639.1:c.3994A>C XP_011520941.1:p.Ile1332Leu
XM_011522639.2:c.3994A>C XP_011520941.1:p.Ile1332Leu
XM_011522640.1:c.3991A>C XP_011520942.1:p.Ile1331Leu
XM_011522640.2:c.3991A>C XP_011520942.1:p.Ile1331Leu
XM_011522641.1:c.3760A>C XP_011520943.1:p.Ile1254Leu
XM_017023615.1:c.4066A>C XP_016879104.1:p.Ile1356Leu
XM_017023616.1:c.3937A>C XP_016879105.1:p.Ile1313Leu
XM_017023617.1:c.4033A>C XP_016879106.1:p.Ile1345Leu
XM_017023618.1:c.2779A>C XP_016879107.1:p.Ile927Leu
XM_024450413.1:c.3868A>C XP_024306181.1:p.Ile1290Leu