Canonical Allele Identifier: CA2631117520

Gene: TSC2

Linked Data

• gnomAD v4: 16-2087932-T-TGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087965_2087966insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG , CM000678.2:g.2087965_2087966insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG	GRCh38
NC_000016.9:g.2137966_2137967insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG , CM000678.1:g.2137966_2137967insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG	GRCh37
NC_000016.8:g.2077967_2077968insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG	NCBI36
NG_005895.1:g.43660_43661insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG , LRG_487:g.43660_43661insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NG_008617.1:g.55288_55289insCCTGCAGGGCCCCACCCGGCCCTACCTTTCCTGCCCTGCAGGGCCCCACCCGGCCCTACCTTTCCTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3417+24_*3417+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000642206.2:c.4915+24_4915+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000642365.2:c.5065+24_5065+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000644417.2:c.*5581+24_*5581+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000646464.2:c.*7817+24_*7817+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000219476.9:c.5068+24_5068+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000350773.9:c.4999+24_4999+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000401874.7:c.4867+24_4867+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000568454.6:c.4900+24_4900+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000569110.2:c.1291+24_1291+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000569930.2:n.2950+24_2950+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000642365.1:c.3722+24_3722+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000642561.1:c.4939+24_4939+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000642791.1:n.665+24_665+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000642797.1:c.4870+24_4870+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000642936.1:c.4936+24_4936+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000643088.1:c.4861+24_4861+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000643177.1:n.1106_1107insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000643426.1:n.2716+24_2716+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000643946.1:c.4993+24_4993+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000644043.1:c.4939+24_4939+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000644278.1:n.574_575insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000644329.1:c.4867+24_4867+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000644335.1:c.4864+24_4864+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000644399.1:c.4989+24_4989+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000645024.1:n.3152+24_3152+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000646388.1:c.5062+24_5062+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000646634.1:n.3883+24_3883+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000646674.1:n.2320+24_2320+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000647042.1:n.2291+24_2291+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000647180.1:n.2181+24_2181+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000219476.7:c.5068+24_5068+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000350773.8:c.4999+24_4999+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000382538.10:c.4723+24_4723+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000401874.6:c.4867+24_4867+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000439117.6:c.*4235+24_*4235+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000439673.6:c.4759+24_4759+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000497886.5:n.2791+24_2791+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000568454.5:c.4900+24_4900+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000569110.1:c.1250+24_1250+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
ENST00000569930.1:n.2183+24_2183+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_000548.3:c.5068+24_5068+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG , LRG_487t1:c.5068+24_5068+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001077183.1:c.4867+24_4867+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001114382.1:c.4999+24_4999+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_005255529.3:c.4939+24_4939+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_005255531.3:c.4870+24_4870+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522636.1:c.5122+24_5122+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522637.1:c.5119+24_5119+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522638.1:c.5011+24_5011+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522639.1:c.4993+24_4993+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522640.1:c.4990+24_4990+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522641.1:c.4759+24_4759+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_000548.4:c.5068+24_5068+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001077183.2:c.4867+24_4867+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001114382.2:c.4999+24_4999+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001318827.1:c.4759+24_4759+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001318829.1:c.4723+24_4723+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001318831.1:c.4336+24_4336+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001318832.1:c.4900+24_4900+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001363528.1:c.4870+24_4870+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_021055.2:c.4939+24_4939+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_005255531.4:c.4870+24_4870+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522636.2:c.5122+24_5122+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522637.2:c.5119+24_5119+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522638.2:c.5284+24_5284+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522639.2:c.4993+24_4993+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_011522640.2:c.4990+24_4990+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_017023615.1:c.5065+24_5065+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_017023616.1:c.4936+24_4936+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_017023617.1:c.5032+24_5032+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_017023618.1:c.3778+24_3778+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
XM_024450413.1:c.4867+24_4867+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_000548.5:c.5068+24_5068+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001370404.1:c.4936+24_4936+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001370405.1:c.4939+24_4939+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001077183.3:c.4867+24_4867+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001114382.3:c.4999+24_4999+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001318827.2:c.4759+24_4759+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001318829.2:c.4723+24_4723+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001318831.2:c.4336+24_4336+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001318832.2:c.4900+24_4900+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_001363528.2:c.4870+24_4870+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG
NM_021055.3:c.4939+24_4939+25insGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGGGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAG