Canonical Allele Identifier: CA16620100
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418993
ClinVar RCV Id: RCV000482478
dbSNP Id: rs1064793573
MyVariant Identifiers: chr16:g.2134322_2134323insT (hg19) chr16:g.2084321_2084322insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084321_2084322insT , CM000678.2:g.2084321_2084322insT GRCh38
NC_000016.9:g.2134322_2134323insT , CM000678.1:g.2134322_2134323insT GRCh37
NC_000016.8:g.2074323_2074324insT NCBI36
NG_005895.1:g.40016_40017insT , LRG_487:g.40016_40017insT

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*2448_*2449insT ENSP00000455997.2:n.*2448_*2449insT
ENST00000642206.2:c.3946_3947insT ENSP00000495146.2:p.Gly1316ValfsTer?
ENST00000642365.2:c.4096_4097insT ENSP00000495459.2:p.Gly1366ValfsTer?
ENST00000644417.2:c.*4479_*4480insT ENSP00000493912.2:n.*4479_*4480insT
ENST00000646464.2:c.*6848_*6849insT ENSP00000496610.2:n.*6848_*6849insT
ENST00000219476.9:c.4099_4100insT MANE Select ENSP00000219476.3:p.Gly1367ValfsTer?
ENST00000350773.9:c.4030_4031insT ENSP00000344383.4:p.Gly1344ValfsTer?
ENST00000401874.7:c.3898_3899insT ENSP00000384468.2:p.Gly1300ValfsTer?
ENST00000568454.6:c.3931_3932insT ENSP00000454487.1:p.Gly1311ValfsTer?
ENST00000569110.2:c.335_336insT
ENST00000569930.2:n.1981_1982insT
ENST00000642365.1:c.2753_2754insT
ENST00000642561.1:c.3970_3971insT ENSP00000495099.1:p.Gly1324ValfsTer?
ENST00000642728.1:n.281_282insT
ENST00000642797.1:c.3901_3902insT ENSP00000493846.1:p.Gly1301ValfsTer?
ENST00000642936.1:c.3967_3968insT ENSP00000494514.1:p.Gly1323ValfsTer?
ENST00000643088.1:c.3898_3899insT ENSP00000494747.1:p.Gly1300ValfsTer?
ENST00000643177.1:n.113_114insT
ENST00000643426.1:n.1747_1748insT
ENST00000643946.1:c.4030_4031insT ENSP00000495927.1:p.Gly1344ValfsTer?
ENST00000644043.1:c.3970_3971insT ENSP00000496262.1:p.Gly1324ValfsTer?
ENST00000644329.1:c.3898_3899insT ENSP00000496611.1:p.Gly1300ValfsTer?
ENST00000644335.1:c.3901_3902insT ENSP00000496317.1:p.Gly1301ValfsTer?
ENST00000644399.1:c.4020_4021insT
ENST00000645024.1:n.2183_2184insT
ENST00000645186.1:c.342_343insT
ENST00000646388.1:c.4099_4100insT ENSP00000495921.1:p.Gly1367ValfsTer?
ENST00000646634.1:n.2914_2915insT
ENST00000646674.1:n.1351_1352insT
ENST00000647042.1:n.1322_1323insT
ENST00000647180.1:n.1212_1213insT
ENST00000219476.7:c.4099_4100insT ENSP00000219476.3:p.Gly1367ValfsTer?
ENST00000350773.8:c.4030_4031insT ENSP00000344383.4:p.Gly1344ValfsTer?
ENST00000382538.10:c.3754_3755insT ENSP00000371978.6:p.Gly1252ValfsTer?
ENST00000401874.6:c.3898_3899insT ENSP00000384468.2:p.Gly1300ValfsTer?
ENST00000439117.6:c.*3266_*3267insT ENSP00000406980.2:n.*3266_*3267insT
ENST00000439673.6:c.3790_3791insT ENSP00000399232.2:p.Gly1264ValfsTer?
ENST00000497886.5:n.1857_1858insT
ENST00000568454.5:c.3931_3932insT ENSP00000454487.1:p.Gly1311ValfsTer?
ENST00000569110.1:c.281_282insT
ENST00000569930.1:n.1214_1215insT
NM_000548.3:c.4099_4100insT , LRG_487t1:c.4099_4100insT NP_000539.2:p.Gly1367ValfsTer?
NM_001077183.1:c.3898_3899insT NP_001070651.1:p.Gly1300ValfsTer?
NM_001114382.1:c.4030_4031insT NP_001107854.1:p.Gly1344ValfsTer?
XM_005255529.3:c.3970_3971insT XP_005255586.2:p.Gly1324ValfsTer?
XM_005255531.3:c.3901_3902insT XP_005255588.2:p.Gly1301ValfsTer?
XM_011522636.1:c.4153_4154insT XP_011520938.1:p.Gly1385ValfsTer?
XM_011522637.1:c.4150_4151insT XP_011520939.1:p.Gly1384ValfsTer?
XM_011522638.1:c.4042_4043insT XP_011520940.1:p.Gly1348ValfsTer?
XM_011522639.1:c.4024_4025insT XP_011520941.1:p.Gly1342ValfsTer?
XM_011522640.1:c.4021_4022insT XP_011520942.1:p.Gly1341ValfsTer?
XM_011522641.1:c.3790_3791insT XP_011520943.1:p.Gly1264ValfsTer?
NM_000548.4:c.4099_4100insT NP_000539.2:p.Gly1367ValfsTer?
NM_001077183.2:c.3898_3899insT NP_001070651.1:p.Gly1300ValfsTer?
NM_001114382.2:c.4030_4031insT NP_001107854.1:p.Gly1344ValfsTer?
NM_001318827.1:c.3790_3791insT NP_001305756.1:p.Gly1264ValfsTer?
NM_001318829.1:c.3754_3755insT NP_001305758.1:p.Gly1252ValfsTer?
NM_001318831.1:c.3367_3368insT NP_001305760.1:p.Gly1123ValfsTer?
NM_001318832.1:c.3931_3932insT NP_001305761.1:p.Gly1311ValfsTer?
NM_001363528.1:c.3901_3902insT NP_001350457.1:p.Gly1301ValfsTer?
NM_021055.2:c.3970_3971insT NP_066399.2:p.Gly1324ValfsTer?
XM_005255531.4:c.3901_3902insT XP_005255588.2:p.Gly1301ValfsTer?
XM_011522636.2:c.4153_4154insT XP_011520938.1:p.Gly1385ValfsTer?
XM_011522637.2:c.4150_4151insT XP_011520939.1:p.Gly1384ValfsTer?
XM_011522638.2:c.4315_4316insT XP_011520940.2:p.Gly1439ValfsTer?
XM_011522639.2:c.4024_4025insT XP_011520941.1:p.Gly1342ValfsTer?
XM_011522640.2:c.4021_4022insT XP_011520942.1:p.Gly1341ValfsTer?
XM_017023615.1:c.4096_4097insT XP_016879104.1:p.Gly1366ValfsTer?
XM_017023616.1:c.3967_3968insT XP_016879105.1:p.Gly1323ValfsTer?
XM_017023617.1:c.4063_4064insT XP_016879106.1:p.Gly1355ValfsTer?
XM_017023618.1:c.2809_2810insT XP_016879107.1:p.Gly937ValfsTer?
XM_024450413.1:c.3898_3899insT XP_024306181.1:p.Gly1300ValfsTer?
NM_000548.5:c.4099_4100insT MANE Select NP_000539.2:p.Gly1367ValfsTer?
NM_001370404.1:c.3967_3968insT NP_001357333.1:p.Gly1323ValfsTer?
NM_001370405.1:c.3970_3971insT NP_001357334.1:p.Gly1324ValfsTer?
NM_001077183.3:c.3898_3899insT NP_001070651.1:p.Gly1300ValfsTer?
NM_001114382.3:c.4030_4031insT NP_001107854.1:p.Gly1344ValfsTer?
NM_001318827.2:c.3790_3791insT NP_001305756.1:p.Gly1264ValfsTer?
NM_001318829.2:c.3754_3755insT NP_001305758.1:p.Gly1252ValfsTer?
NM_001318831.2:c.3367_3368insT NP_001305760.1:p.Gly1123ValfsTer?
NM_001318832.2:c.3931_3932insT NP_001305761.1:p.Gly1311ValfsTer?
NM_001363528.2:c.3901_3902insT NP_001350457.1:p.Gly1301ValfsTer?
NM_021055.3:c.3970_3971insT NP_066399.2:p.Gly1324ValfsTer?
Search 100 bp 5'
Search 100 bp 3'