Canonical Allele Identifier: CA394299355
Community Standard Title: NM_000548.5(TSC2):c.4058T>C (p.Val1353Ala)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084280T>C , CM000678.2:g.2084280T>C GRCh38
NC_000016.9:g.2134281T>C , CM000678.1:g.2134281T>C GRCh37
NC_000016.8:g.2074282T>C NCBI36
NG_005895.1:g.39975T>C , LRG_487:g.39975T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4058T>C MANE Select NP_000539.2:p.Val1353Ala
ENST00000219476.9:c.4058T>C MANE Select ENSP00000219476.3:p.Val1353Ala
NM_000548.3:c.4058T>C , LRG_487t1:c.4058T>C NP_000539.2:p.Val1353Ala
NM_000548.4:c.4058T>C NP_000539.2:p.Val1353Ala
NM_001077183.1:c.3857T>C NP_001070651.1:p.Val1286Ala
NM_001077183.2:c.3857T>C NP_001070651.1:p.Val1286Ala
NM_001077183.3:c.3857T>C NP_001070651.1:p.Val1286Ala
NM_001114382.1:c.3989T>C NP_001107854.1:p.Val1330Ala
NM_001114382.2:c.3989T>C NP_001107854.1:p.Val1330Ala
NM_001114382.3:c.3989T>C NP_001107854.1:p.Val1330Ala
NM_001318827.1:c.3749T>C NP_001305756.1:p.Val1250Ala
NM_001318827.2:c.3749T>C NP_001305756.1:p.Val1250Ala
NM_001318829.1:c.3713T>C NP_001305758.1:p.Val1238Ala
NM_001318829.2:c.3713T>C NP_001305758.1:p.Val1238Ala
NM_001318831.1:c.3326T>C NP_001305760.1:p.Val1109Ala
NM_001318831.2:c.3326T>C NP_001305760.1:p.Val1109Ala
NM_001318832.1:c.3890T>C NP_001305761.1:p.Val1297Ala
NM_001318832.2:c.3890T>C NP_001305761.1:p.Val1297Ala
NM_001363528.1:c.3860T>C NP_001350457.1:p.Val1287Ala
NM_001363528.2:c.3860T>C NP_001350457.1:p.Val1287Ala
NM_001370404.1:c.3926T>C NP_001357333.1:p.Val1309Ala
NM_001370405.1:c.3929T>C NP_001357334.1:p.Val1310Ala
NM_021055.2:c.3929T>C NP_066399.2:p.Val1310Ala
NM_021055.3:c.3929T>C NP_066399.2:p.Val1310Ala
ENST00000219476.7:c.4058T>C ENSP00000219476.3:p.Val1353Ala
ENST00000350773.8:c.3989T>C ENSP00000344383.4:p.Val1330Ala
ENST00000350773.9:c.3989T>C ENSP00000344383.4:p.Val1330Ala
ENST00000382538.10:c.3713T>C ENSP00000371978.6:p.Val1238Ala
ENST00000401874.6:c.3857T>C ENSP00000384468.2:p.Val1286Ala
ENST00000401874.7:c.3857T>C ENSP00000384468.2:p.Val1286Ala
ENST00000439117.6:c.*3225T>C ENSP00000406980.2:n.*3225T>C
ENST00000439673.6:c.3749T>C ENSP00000399232.2:p.Val1250Ala
ENST00000497886.5:n.1816T>C
ENST00000568454.5:c.3890T>C ENSP00000454487.1:p.Val1297Ala
ENST00000568454.6:c.3890T>C ENSP00000454487.1:p.Val1297Ala
ENST00000568566.6:c.*2407T>C ENSP00000455997.2:n.*2407T>C
ENST00000569110.1:c.240T>C
ENST00000569110.2:c.294T>C
ENST00000569930.1:n.1173T>C
ENST00000569930.2:n.1940T>C
ENST00000642206.2:c.3905T>C ENSP00000495146.2:p.Val1302Ala
ENST00000642365.1:c.2712T>C
ENST00000642365.2:c.4055T>C ENSP00000495459.2:p.Val1352Ala
ENST00000642561.1:c.3929T>C ENSP00000495099.1:p.Val1310Ala
ENST00000642728.1:n.240T>C
ENST00000642797.1:c.3860T>C ENSP00000493846.1:p.Val1287Ala
ENST00000642936.1:c.3926T>C ENSP00000494514.1:p.Val1309Ala
ENST00000643088.1:c.3857T>C ENSP00000494747.1:p.Val1286Ala
ENST00000643177.1:n.72T>C
ENST00000643426.1:n.1706T>C
ENST00000643533.1:n.499T>C
ENST00000643946.1:c.3989T>C ENSP00000495927.1:p.Val1330Ala
ENST00000644043.1:c.3929T>C ENSP00000496262.1:p.Val1310Ala
ENST00000644329.1:c.3857T>C ENSP00000496611.1:p.Val1286Ala
ENST00000644335.1:c.3860T>C ENSP00000496317.1:p.Val1287Ala
ENST00000644399.1:c.3979T>C
ENST00000644417.2:c.*4438T>C ENSP00000493912.2:n.*4438T>C
ENST00000645024.1:n.2142T>C
ENST00000645186.1:c.301T>C
ENST00000646388.1:c.4058T>C ENSP00000495921.1:p.Val1353Ala
ENST00000646464.2:c.*6807T>C ENSP00000496610.2:n.*6807T>C
ENST00000646634.1:n.2873T>C
ENST00000646674.1:n.1310T>C
ENST00000647042.1:n.1281T>C
ENST00000647180.1:n.1171T>C
XM_005255529.3:c.3929T>C XP_005255586.2:p.Val1310Ala
XM_005255531.3:c.3860T>C XP_005255588.2:p.Val1287Ala
XM_005255531.4:c.3860T>C XP_005255588.2:p.Val1287Ala
XM_011522636.1:c.4112T>C XP_011520938.1:p.Val1371Ala
XM_011522636.2:c.4112T>C XP_011520938.1:p.Val1371Ala
XM_011522637.1:c.4109T>C XP_011520939.1:p.Val1370Ala
XM_011522637.2:c.4109T>C XP_011520939.1:p.Val1370Ala
XM_011522638.1:c.4001T>C XP_011520940.1:p.Val1334Ala
XM_011522638.2:c.4274T>C XP_011520940.2:p.Val1425Ala
XM_011522639.1:c.3983T>C XP_011520941.1:p.Val1328Ala
XM_011522639.2:c.3983T>C XP_011520941.1:p.Val1328Ala
XM_011522640.1:c.3980T>C XP_011520942.1:p.Val1327Ala
XM_011522640.2:c.3980T>C XP_011520942.1:p.Val1327Ala
XM_011522641.1:c.3749T>C XP_011520943.1:p.Val1250Ala
XM_017023615.1:c.4055T>C XP_016879104.1:p.Val1352Ala
XM_017023616.1:c.3926T>C XP_016879105.1:p.Val1309Ala
XM_017023617.1:c.4022T>C XP_016879106.1:p.Val1341Ala
XM_017023618.1:c.2768T>C XP_016879107.1:p.Val923Ala
XM_024450413.1:c.3857T>C XP_024306181.1:p.Val1286Ala