Canonical Allele Identifier: CA2202032635

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088311_2088338delinsCGGCTCCGCCAGCGGGTAGGGAATATGG , CM000678.2:g.2088311_2088338delinsCGGCTCCGCCAGCGGGTAGGGAATATGG	GRCh38
NC_000016.9:g.2138312_2138339delinsCGGCTCCGCCAGCGGGTAGGGAATATGG , CM000678.1:g.2138312_2138339delinsCGGCTCCGCCAGCGGGTAGGGAATATGG	GRCh37
NC_000016.8:g.2078313_2078340delinsCGGCTCCGCCAGCGGGTAGGGAATATGG	NCBI36
NG_005895.1:g.44006_44033delinsCGGCTCCGCCAGCGGGTAGGGAATATGG , LRG_487:g.44006_44033delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NG_008617.1:g.54883_54910delinsCCATATTCCCTACCCGCTGGCGGAGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3594_*3608+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000642206.2:c.5092_5106+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000642365.2:c.5242_5256+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000644417.2:c.*5758_*5772+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000646464.2:c.*7994_*8008+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000219476.9:c.5245_5259+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000350773.9:c.5176_5190+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000401874.7:c.5044_5058+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000568454.6:c.5077_5091+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000569110.2:c.1468_1482+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000569930.2:n.3127_3141+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000642365.1:c.3899_3913+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000642561.1:c.5104_5118+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000642791.1:n.842_856+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000642797.1:c.5047_5061+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000642936.1:c.5113_5127+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000643088.1:c.5038_5052+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000643426.1:n.2893_2907+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000643946.1:c.5170_5184+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000644043.1:c.5116_5130+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000644329.1:c.5131_5145+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000644335.1:c.5041_5055+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000644399.1:c.5166_5180+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000645024.1:n.3329_3343+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000646388.1:c.5239_5253+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000646634.1:n.4060_4074+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000646674.1:n.2497_2511+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000647042.1:n.2468_2482+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000647180.1:n.2358_2372+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000219476.7:c.5245_5259+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000350773.8:c.5176_5190+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000382538.10:c.4900_4914+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000401874.6:c.5044_5058+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000439117.6:c.*4412_*4426+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000439673.6:c.4936_4950+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000497886.5:n.2968_2982+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000568454.5:c.5077_5091+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000569110.1:c.1427_1441+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
ENST00000569930.1:n.2360_2374+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_000548.3:c.5245_5259+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG , LRG_487t1:c.5245_5259+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001077183.1:c.5044_5058+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001114382.1:c.5176_5190+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_005255529.3:c.5116_5130+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_005255531.3:c.5047_5061+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522636.1:c.5299_5313+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522637.1:c.5296_5310+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522638.1:c.5188_5202+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522639.1:c.5170_5184+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522640.1:c.5167_5181+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522641.1:c.4936_4950+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_000548.4:c.5245_5259+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001077183.2:c.5044_5058+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001114382.2:c.5176_5190+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001318827.1:c.4936_4950+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001318829.1:c.4900_4914+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001318831.1:c.4513_4527+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001318832.1:c.5077_5091+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001363528.1:c.5047_5061+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_021055.2:c.5116_5130+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_005255531.4:c.5047_5061+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522636.2:c.5299_5313+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522637.2:c.5296_5310+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522638.2:c.5461_5475+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522639.2:c.5170_5184+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_011522640.2:c.5167_5181+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_017023615.1:c.5242_5256+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_017023616.1:c.5113_5127+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_017023617.1:c.5209_5223+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_017023618.1:c.3955_3969+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
XM_024450413.1:c.5131_5145+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_000548.5:c.5245_5259+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001370404.1:c.5113_5127+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001370405.1:c.5104_5118+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001077183.3:c.5044_5058+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001114382.3:c.5176_5190+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001318827.2:c.4936_4950+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001318829.2:c.4900_4914+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001318831.2:c.4513_4527+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001318832.2:c.5077_5091+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_001363528.2:c.5047_5061+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
NM_021055.3:c.5116_5130+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG