Canonical Allele Identifier: CA16620096
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418833
ClinVar RCV Id: RCV000478220
dbSNP Id: rs1064793464

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2080171del , CM000678.2:g.2080171del GRCh38
NC_000016.9:g.2130172del , CM000678.1:g.2130172del GRCh37
NC_000016.8:g.2070173del NCBI36
NG_005895.1:g.35866del , LRG_487:g.35866del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1822del ENSP00000455997.2:n.*1822del
ENST00000642206.2:c.3320del ENSP00000495146.2:p.His1107LeufsTer?
ENST00000642365.2:c.3401del ENSP00000495459.2:p.His1134LeufsTer?
ENST00000644417.2:c.*3853del ENSP00000493912.2:n.*3853del
ENST00000646464.2:c.*4326del ENSP00000496610.2:n.*4326del
ENST00000219476.9:c.3404del MANE Select ENSP00000219476.3:p.His1135LeufsTer?
ENST00000350773.9:c.3404del ENSP00000344383.4:p.His1135LeufsTer?
ENST00000401874.7:c.3272del ENSP00000384468.2:p.His1091LeufsTer?
ENST00000568454.6:c.3305del ENSP00000454487.1:p.His1102LeufsTer?
ENST00000642365.1:c.2058del
ENST00000642561.1:c.3275del ENSP00000495099.1:p.His1092LeufsTer?
ENST00000642797.1:c.3275del ENSP00000493846.1:p.His1092LeufsTer?
ENST00000642936.1:c.3272del ENSP00000494514.1:p.His1091LeufsTer?
ENST00000643088.1:c.3272del ENSP00000494747.1:p.His1091LeufsTer?
ENST00000643946.1:c.3404del ENSP00000495927.1:p.His1135LeufsTer?
ENST00000644043.1:c.3275del ENSP00000496262.1:p.His1092LeufsTer?
ENST00000644329.1:c.3272del ENSP00000496611.1:p.His1091LeufsTer?
ENST00000644335.1:c.3275del ENSP00000496317.1:p.His1092LeufsTer?
ENST00000644399.1:c.3394del
ENST00000644722.1:n.550del
ENST00000645024.1:n.1557del
ENST00000646388.1:c.3404del ENSP00000495921.1:p.His1135LeufsTer?
ENST00000646634.1:n.2288del
ENST00000646674.1:n.19del
ENST00000647042.1:n.696del
ENST00000219476.7:c.3404del ENSP00000219476.3:p.His1135LeufsTer?
ENST00000350773.8:c.3404del ENSP00000344383.4:p.His1135LeufsTer?
ENST00000382538.10:c.3128del ENSP00000371978.6:p.His1043LeufsTer?
ENST00000401874.6:c.3272del ENSP00000384468.2:p.His1091LeufsTer?
ENST00000439117.6:c.*2571del ENSP00000406980.2:n.*2571del
ENST00000439673.6:c.3164del ENSP00000399232.2:p.His1055LeufsTer?
ENST00000497886.5:n.1231del
ENST00000568366.5:n.761del
ENST00000568454.5:c.3305del ENSP00000454487.1:p.His1102LeufsTer?
NM_000548.3:c.3404del , LRG_487t1:c.3404del NP_000539.2:p.His1135LeufsTer?
NM_001077183.1:c.3272del NP_001070651.1:p.His1091LeufsTer?
NM_001114382.1:c.3404del NP_001107854.1:p.His1135LeufsTer?
XM_005255529.3:c.3275del XP_005255586.2:p.His1092LeufsTer?
XM_005255531.3:c.3275del XP_005255588.2:p.His1092LeufsTer?
XM_011522636.1:c.3404del XP_011520938.1:p.His1135LeufsTer?
XM_011522637.1:c.3401del XP_011520939.1:p.His1134LeufsTer?
XM_011522638.1:c.3293del XP_011520940.1:p.His1098LeufsTer?
XM_011522639.1:c.3275del XP_011520941.1:p.His1092LeufsTer?
XM_011522640.1:c.3272del XP_011520942.1:p.His1091LeufsTer?
XM_011522641.1:c.3164del XP_011520943.1:p.His1055LeufsTer?
NM_000548.4:c.3404del NP_000539.2:p.His1135LeufsTer?
NM_001077183.2:c.3272del NP_001070651.1:p.His1091LeufsTer?
NM_001114382.2:c.3404del NP_001107854.1:p.His1135LeufsTer?
NM_001318827.1:c.3164del NP_001305756.1:p.His1055LeufsTer?
NM_001318829.1:c.3128del NP_001305758.1:p.His1043LeufsTer?
NM_001318831.1:c.2672del NP_001305760.1:p.His891LeufsTer?
NM_001318832.1:c.3305del NP_001305761.1:p.His1102LeufsTer?
NM_001363528.1:c.3275del NP_001350457.1:p.His1092LeufsTer?
NM_021055.2:c.3275del NP_066399.2:p.His1092LeufsTer?
XM_005255531.4:c.3275del XP_005255588.2:p.His1092LeufsTer?
XM_011522636.2:c.3404del XP_011520938.1:p.His1135LeufsTer?
XM_011522637.2:c.3401del XP_011520939.1:p.His1134LeufsTer?
XM_011522638.2:c.3566del XP_011520940.2:p.His1189LeufsTer?
XM_011522639.2:c.3275del XP_011520941.1:p.His1092LeufsTer?
XM_011522640.2:c.3272del XP_011520942.1:p.His1091LeufsTer?
XM_017023615.1:c.3401del XP_016879104.1:p.His1134LeufsTer?
XM_017023616.1:c.3272del XP_016879105.1:p.His1091LeufsTer?
XM_017023617.1:c.3437del XP_016879106.1:p.His1146LeufsTer?
XM_017023618.1:c.2060del XP_016879107.1:p.His687LeufsTer?
XM_024450413.1:c.3272del XP_024306181.1:p.His1091LeufsTer?
NM_000548.5:c.3404del MANE Select NP_000539.2:p.His1135LeufsTer?
NM_001370404.1:c.3272del NP_001357333.1:p.His1091LeufsTer?
NM_001370405.1:c.3275del NP_001357334.1:p.His1092LeufsTer?
NM_001077183.3:c.3272del NP_001070651.1:p.His1091LeufsTer?
NM_001114382.3:c.3404del NP_001107854.1:p.His1135LeufsTer?
NM_001318827.2:c.3164del NP_001305756.1:p.His1055LeufsTer?
NM_001318829.2:c.3128del NP_001305758.1:p.His1043LeufsTer?
NM_001318831.2:c.2672del NP_001305760.1:p.His891LeufsTer?
NM_001318832.2:c.3305del NP_001305761.1:p.His1102LeufsTer?
NM_001363528.2:c.3275del NP_001350457.1:p.His1092LeufsTer?
NM_021055.3:c.3275del NP_066399.2:p.His1092LeufsTer?