Canonical Allele Identifier: CA051039
Community Standard Title: NM_000548.5(TSC2):c.4399G>T (p.Ala1467Ser)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084621G>T , CM000678.2:g.2084621G>T GRCh38
NC_000016.9:g.2134622G>T , CM000678.1:g.2134622G>T GRCh37
NC_000016.8:g.2074623G>T NCBI36
NG_005895.1:g.40316G>T , LRG_487:g.40316G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4399G>T MANE Select NP_000539.2:p.Ala1467Ser
ENST00000219476.9:c.4399G>T MANE Select ENSP00000219476.3:p.Ala1467Ser
NM_000548.3:c.4399G>T , LRG_487t1:c.4399G>T NP_000539.2:p.Ala1467Ser
NM_000548.4:c.4399G>T NP_000539.2:p.Ala1467Ser
NM_001077183.1:c.4198G>T NP_001070651.1:p.Ala1400Ser
NM_001077183.2:c.4198G>T NP_001070651.1:p.Ala1400Ser
NM_001077183.3:c.4198G>T NP_001070651.1:p.Ala1400Ser
NM_001114382.1:c.4330G>T NP_001107854.1:p.Ala1444Ser
NM_001114382.2:c.4330G>T NP_001107854.1:p.Ala1444Ser
NM_001114382.3:c.4330G>T NP_001107854.1:p.Ala1444Ser
NM_001318827.1:c.4090G>T NP_001305756.1:p.Ala1364Ser
NM_001318827.2:c.4090G>T NP_001305756.1:p.Ala1364Ser
NM_001318829.1:c.4054G>T NP_001305758.1:p.Ala1352Ser
NM_001318829.2:c.4054G>T NP_001305758.1:p.Ala1352Ser
NM_001318831.1:c.3667G>T NP_001305760.1:p.Ala1223Ser
NM_001318831.2:c.3667G>T NP_001305760.1:p.Ala1223Ser
NM_001318832.1:c.4231G>T NP_001305761.1:p.Ala1411Ser
NM_001318832.2:c.4231G>T NP_001305761.1:p.Ala1411Ser
NM_001363528.1:c.4201G>T NP_001350457.1:p.Ala1401Ser
NM_001363528.2:c.4201G>T NP_001350457.1:p.Ala1401Ser
NM_001370404.1:c.4267G>T NP_001357333.1:p.Ala1423Ser
NM_001370405.1:c.4270G>T NP_001357334.1:p.Ala1424Ser
NM_021055.2:c.4270G>T NP_066399.2:p.Ala1424Ser
NM_021055.3:c.4270G>T NP_066399.2:p.Ala1424Ser
ENST00000219476.7:c.4399G>T ENSP00000219476.3:p.Ala1467Ser
ENST00000350773.8:c.4330G>T ENSP00000344383.4:p.Ala1444Ser
ENST00000350773.9:c.4330G>T ENSP00000344383.4:p.Ala1444Ser
ENST00000382538.10:c.4054G>T ENSP00000371978.6:p.Ala1352Ser
ENST00000401874.6:c.4198G>T ENSP00000384468.2:p.Ala1400Ser
ENST00000401874.7:c.4198G>T ENSP00000384468.2:p.Ala1400Ser
ENST00000439117.6:c.*3566G>T ENSP00000406980.2:n.*3566G>T
ENST00000439673.6:c.4090G>T ENSP00000399232.2:p.Ala1364Ser
ENST00000497886.5:n.2157G>T
ENST00000568454.5:c.4231G>T ENSP00000454487.1:p.Ala1411Ser
ENST00000568454.6:c.4231G>T ENSP00000454487.1:p.Ala1411Ser
ENST00000568566.6:c.*2748G>T ENSP00000455997.2:n.*2748G>T
ENST00000569110.1:c.581G>T
ENST00000569110.2:c.635G>T
ENST00000569930.1:n.1514G>T
ENST00000569930.2:n.2281G>T
ENST00000642206.2:c.4246G>T ENSP00000495146.2:p.Ala1416Ser
ENST00000642365.1:c.3053G>T
ENST00000642365.2:c.4396G>T ENSP00000495459.2:p.Ala1466Ser
ENST00000642561.1:c.4270G>T ENSP00000495099.1:p.Ala1424Ser
ENST00000642728.1:n.581G>T
ENST00000642797.1:c.4201G>T ENSP00000493846.1:p.Ala1401Ser
ENST00000642936.1:c.4267G>T ENSP00000494514.1:p.Ala1423Ser
ENST00000643088.1:c.4198G>T ENSP00000494747.1:p.Ala1400Ser
ENST00000643177.1:n.413G>T
ENST00000643426.1:n.2047G>T
ENST00000643946.1:c.4330G>T ENSP00000495927.1:p.Ala1444Ser
ENST00000644043.1:c.4270G>T ENSP00000496262.1:p.Ala1424Ser
ENST00000644329.1:c.4198G>T ENSP00000496611.1:p.Ala1400Ser
ENST00000644335.1:c.4201G>T ENSP00000496317.1:p.Ala1401Ser
ENST00000644399.1:c.4320G>T
ENST00000644417.2:c.*4779G>T ENSP00000493912.2:n.*4779G>T
ENST00000645024.1:n.2483G>T
ENST00000646388.1:c.4399G>T ENSP00000495921.1:p.Ala1467Ser
ENST00000646464.2:c.*7148G>T ENSP00000496610.2:n.*7148G>T
ENST00000646634.1:n.3214G>T
ENST00000646674.1:n.1651G>T
ENST00000647042.1:n.1622G>T
ENST00000647180.1:n.1512G>T
XM_005255529.3:c.4270G>T XP_005255586.2:p.Ala1424Ser
XM_005255531.3:c.4201G>T XP_005255588.2:p.Ala1401Ser
XM_005255531.4:c.4201G>T XP_005255588.2:p.Ala1401Ser
XM_011522636.1:c.4453G>T XP_011520938.1:p.Ala1485Ser
XM_011522636.2:c.4453G>T XP_011520938.1:p.Ala1485Ser
XM_011522637.1:c.4450G>T XP_011520939.1:p.Ala1484Ser
XM_011522637.2:c.4450G>T XP_011520939.1:p.Ala1484Ser
XM_011522638.1:c.4342G>T XP_011520940.1:p.Ala1448Ser
XM_011522638.2:c.4615G>T XP_011520940.2:p.Ala1539Ser
XM_011522639.1:c.4324G>T XP_011520941.1:p.Ala1442Ser
XM_011522639.2:c.4324G>T XP_011520941.1:p.Ala1442Ser
XM_011522640.1:c.4321G>T XP_011520942.1:p.Ala1441Ser
XM_011522640.2:c.4321G>T XP_011520942.1:p.Ala1441Ser
XM_011522641.1:c.4090G>T XP_011520943.1:p.Ala1364Ser
XM_017023615.1:c.4396G>T XP_016879104.1:p.Ala1466Ser
XM_017023616.1:c.4267G>T XP_016879105.1:p.Ala1423Ser
XM_017023617.1:c.4363G>T XP_016879106.1:p.Ala1455Ser
XM_017023618.1:c.3109G>T XP_016879107.1:p.Ala1037Ser
XM_024450413.1:c.4198G>T XP_024306181.1:p.Ala1400Ser