Canonical Allele Identifier: CA1139664308

Gene: TSC2

Linked Data

• ClinVar Variation Id: 978587
• ClinVar RCV Id: RCV001257306

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2071858_2074085delinsTAAGCACTTAGTCTCCT , CM000678.2:g.2071858_2074085delinsTAAGCACTTAGTCTCCT	GRCh38
NC_000016.9:g.2121859_2124086delinsTAAGCACTTAGTCTCCT , CM000678.1:g.2121859_2124086delinsTAAGCACTTAGTCTCCT	GRCh37
NC_000016.8:g.2061860_2064087delinsTAAGCACTTAGTCTCCT	NCBI36
NG_005895.1:g.27553_29780delinsTAAGCACTTAGTCTCCT , LRG_487:g.27553_29780delinsTAAGCACTTAGTCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*568_*903-115delinsTAAGCACTTAGTCTCCT
ENST00000642206.2:c.2066_2401-115delinsTAAGCACTTAGTCTCCT
ENST00000642365.2:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000644417.2:c.*1458_*1793-115delinsTAAGCACTTAGTCTCCT
ENST00000646464.2:c.*1626_*2001-115delinsTAAGCACTTAGTCTCCT
ENST00000219476.9:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000350773.9:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000401874.7:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000563346.2:n.199_534-115delinsTAAGCACTTAGTCTCCT
ENST00000568454.6:c.2054_2389-115delinsTAAGCACTTAGTCTCCT
ENST00000642365.1:c.678_1013-115delinsTAAGCACTTAGTCTCCT
ENST00000642561.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000642797.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000642936.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000643088.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000643298.1:c.*1523_*1858-115delinsTAAGCACTTAGTCTCCT
ENST00000643946.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000644043.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000644329.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000644335.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000644399.1:c.2014_2349-115delinsTAAGCACTTAGTCTCCT
ENST00000644847.1:n.1013_1348-115delinsTAAGCACTTAGTCTCCT
ENST00000645024.1:n.303_638-115delinsTAAGCACTTAGTCTCCT
ENST00000645552.1:n.301_636-115delinsTAAGCACTTAGTCTCCT
ENST00000646388.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000646464.1:c.74_449-115delinsTAAGCACTTAGTCTCCT
ENST00000646634.1:n.1034_1369-115delinsTAAGCACTTAGTCTCCT
ENST00000219476.7:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000350773.8:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000382538.10:c.1874_2209-115delinsTAAGCACTTAGTCTCCT
ENST00000401874.6:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
ENST00000439117.6:c.*1320_*1655-115delinsTAAGCACTTAGTCTCCT
ENST00000439673.6:c.1910_2245-115delinsTAAGCACTTAGTCTCCT
ENST00000563346.1:n.90_425-115delinsTAAGCACTTAGTCTCCT
ENST00000568454.5:c.2054_2389-115delinsTAAGCACTTAGTCTCCT
NM_000548.3:c.2021_2356-115delinsTAAGCACTTAGTCTCCT , LRG_487t1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_001077183.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_001114382.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_005255529.3:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_005255531.3:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_011522636.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_011522637.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_011522638.1:c.1910_2245-115delinsTAAGCACTTAGTCTCCT
XM_011522639.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_011522640.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_011522641.1:c.1910_2245-115delinsTAAGCACTTAGTCTCCT
NM_000548.4:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_001077183.2:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_001114382.2:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_001318827.1:c.1910_2245-115delinsTAAGCACTTAGTCTCCT
NM_001318829.1:c.1874_2209-115delinsTAAGCACTTAGTCTCCT
NM_001318831.1:c.1421_1756-115delinsTAAGCACTTAGTCTCCT
NM_001318832.1:c.2054_2389-115delinsTAAGCACTTAGTCTCCT
NM_001363528.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_021055.2:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_005255531.4:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_011522636.2:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_011522637.2:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_011522638.2:c.2183_2518-115delinsTAAGCACTTAGTCTCCT
XM_011522639.2:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_011522640.2:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_017023615.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_017023616.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
XM_017023617.1:c.2183_2518-115delinsTAAGCACTTAGTCTCCT
XM_017023618.1:c.677_1012-115delinsTAAGCACTTAGTCTCCT
XM_024450413.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_000548.5:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_001370404.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_001370405.1:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_001077183.3:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_001114382.3:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_001318827.2:c.1910_2245-115delinsTAAGCACTTAGTCTCCT
NM_001318829.2:c.1874_2209-115delinsTAAGCACTTAGTCTCCT
NM_001318831.2:c.1421_1756-115delinsTAAGCACTTAGTCTCCT
NM_001318832.2:c.2054_2389-115delinsTAAGCACTTAGTCTCCT
NM_001363528.2:c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_021055.3:c.2021_2356-115delinsTAAGCACTTAGTCTCCT