Canonical Allele Identifier: CA046451
Community Standard Title: NM_000548.5(TSC2):c.3388T>G (p.Ser1130Ala)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079660T>G , CM000678.2:g.2079660T>G GRCh38
NC_000016.9:g.2129661T>G , CM000678.1:g.2129661T>G GRCh37
NC_000016.8:g.2069662T>G NCBI36
NG_005895.1:g.35355T>G , LRG_487:g.35355T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.3388T>G MANE Select NP_000539.2:p.Ser1130Ala
ENST00000219476.9:c.3388T>G MANE Select ENSP00000219476.3:p.Ser1130Ala
NM_000548.3:c.3388T>G , LRG_487t1:c.3388T>G NP_000539.2:p.Ser1130Ala
NM_000548.4:c.3388T>G NP_000539.2:p.Ser1130Ala
NM_001077183.1:c.3256T>G NP_001070651.1:p.Ser1086Ala
NM_001077183.2:c.3256T>G NP_001070651.1:p.Ser1086Ala
NM_001077183.3:c.3256T>G NP_001070651.1:p.Ser1086Ala
NM_001114382.1:c.3388T>G NP_001107854.1:p.Ser1130Ala
NM_001114382.2:c.3388T>G NP_001107854.1:p.Ser1130Ala
NM_001114382.3:c.3388T>G NP_001107854.1:p.Ser1130Ala
NM_001318827.1:c.3148T>G NP_001305756.1:p.Ser1050Ala
NM_001318827.2:c.3148T>G NP_001305756.1:p.Ser1050Ala
NM_001318829.1:c.3112T>G NP_001305758.1:p.Ser1038Ala
NM_001318829.2:c.3112T>G NP_001305758.1:p.Ser1038Ala
NM_001318831.1:c.2656T>G NP_001305760.1:p.Ser886Ala
NM_001318831.2:c.2656T>G NP_001305760.1:p.Ser886Ala
NM_001318832.1:c.3289T>G NP_001305761.1:p.Ser1097Ala
NM_001318832.2:c.3289T>G NP_001305761.1:p.Ser1097Ala
NM_001363528.1:c.3259T>G NP_001350457.1:p.Ser1087Ala
NM_001363528.2:c.3259T>G NP_001350457.1:p.Ser1087Ala
NM_001370404.1:c.3256T>G NP_001357333.1:p.Ser1086Ala
NM_001370405.1:c.3259T>G NP_001357334.1:p.Ser1087Ala
NM_021055.2:c.3259T>G NP_066399.2:p.Ser1087Ala
NM_021055.3:c.3259T>G NP_066399.2:p.Ser1087Ala
ENST00000219476.7:c.3388T>G ENSP00000219476.3:p.Ser1130Ala
ENST00000350773.8:c.3388T>G ENSP00000344383.4:p.Ser1130Ala
ENST00000350773.9:c.3388T>G ENSP00000344383.4:p.Ser1130Ala
ENST00000382538.10:c.3112T>G ENSP00000371978.6:p.Ser1038Ala
ENST00000401874.6:c.3256T>G ENSP00000384468.2:p.Ser1086Ala
ENST00000401874.7:c.3256T>G ENSP00000384468.2:p.Ser1086Ala
ENST00000439117.6:c.*2555T>G ENSP00000406980.2:n.*2555T>G
ENST00000439673.6:c.3148T>G ENSP00000399232.2:p.Ser1050Ala
ENST00000497886.5:n.1215T>G
ENST00000568366.5:n.745T>G
ENST00000568454.5:c.3289T>G ENSP00000454487.1:p.Ser1097Ala
ENST00000568454.6:c.3289T>G ENSP00000454487.1:p.Ser1097Ala
ENST00000568566.6:c.*1806T>G ENSP00000455997.2:n.*1806T>G
ENST00000642206.2:c.3304T>G ENSP00000495146.2:p.Ser1102Ala
ENST00000642365.1:c.2042T>G
ENST00000642365.2:c.3385T>G ENSP00000495459.2:p.Ser1129Ala
ENST00000642561.1:c.3259T>G ENSP00000495099.1:p.Ser1087Ala
ENST00000642797.1:c.3259T>G ENSP00000493846.1:p.Ser1087Ala
ENST00000642936.1:c.3256T>G ENSP00000494514.1:p.Ser1086Ala
ENST00000643088.1:c.3256T>G ENSP00000494747.1:p.Ser1086Ala
ENST00000643946.1:c.3388T>G ENSP00000495927.1:p.Ser1130Ala
ENST00000644043.1:c.3259T>G ENSP00000496262.1:p.Ser1087Ala
ENST00000644329.1:c.3256T>G ENSP00000496611.1:p.Ser1086Ala
ENST00000644335.1:c.3259T>G ENSP00000496317.1:p.Ser1087Ala
ENST00000644399.1:c.3378T>G
ENST00000644417.2:c.*3837T>G ENSP00000493912.2:n.*3837T>G
ENST00000644722.1:n.534T>G
ENST00000645024.1:n.1541T>G
ENST00000646388.1:c.3388T>G ENSP00000495921.1:p.Ser1130Ala
ENST00000646464.2:c.*4310T>G ENSP00000496610.2:n.*4310T>G
ENST00000646634.1:n.2272T>G
ENST00000646674.1:n.3T>G
ENST00000647042.1:n.680T>G
XM_005255529.3:c.3259T>G XP_005255586.2:p.Ser1087Ala
XM_005255531.3:c.3259T>G XP_005255588.2:p.Ser1087Ala
XM_005255531.4:c.3259T>G XP_005255588.2:p.Ser1087Ala
XM_011522636.1:c.3388T>G XP_011520938.1:p.Ser1130Ala
XM_011522636.2:c.3388T>G XP_011520938.1:p.Ser1130Ala
XM_011522637.1:c.3385T>G XP_011520939.1:p.Ser1129Ala
XM_011522637.2:c.3385T>G XP_011520939.1:p.Ser1129Ala
XM_011522638.1:c.3277T>G XP_011520940.1:p.Ser1093Ala
XM_011522638.2:c.3550T>G XP_011520940.2:p.Ser1184Ala
XM_011522639.1:c.3259T>G XP_011520941.1:p.Ser1087Ala
XM_011522639.2:c.3259T>G XP_011520941.1:p.Ser1087Ala
XM_011522640.1:c.3256T>G XP_011520942.1:p.Ser1086Ala
XM_011522640.2:c.3256T>G XP_011520942.1:p.Ser1086Ala
XM_011522641.1:c.3148T>G XP_011520943.1:p.Ser1050Ala
XM_017023615.1:c.3385T>G XP_016879104.1:p.Ser1129Ala
XM_017023616.1:c.3256T>G XP_016879105.1:p.Ser1086Ala
XM_017023617.1:c.3421T>G XP_016879106.1:p.Ser1141Ala
XM_017023618.1:c.2044T>G XP_016879107.1:p.Ser682Ala
XM_024450413.1:c.3256T>G XP_024306181.1:p.Ser1086Ala