Canonical Allele Identifier: CA1139664301
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49620
ClinVar RCV Id: RCV000042882
dbSNP Id: rs2088100689

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2070396_2071309del , CM000678.2:g.2070396_2071309del GRCh38
NC_000016.9:g.2120397_2121310del , CM000678.1:g.2120397_2121310del GRCh37
NC_000016.8:g.2060398_2061311del NCBI36
NG_005895.1:g.26091_27004del , LRG_487:g.26091_27004del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*264-60_*387-201del
ENST00000642206.2:c.1762-60_1885-201del
ENST00000642365.2:c.1717-60_1840-201del
ENST00000644417.2:c.*1154-60_*1277-201del
ENST00000646464.2:c.*1322-60_*1445-201del
ENST00000219476.9:c.1717-60_1840-201del
ENST00000350773.9:c.1717-60_1840-201del
ENST00000401874.7:c.1717-60_1840-201del
ENST00000568454.6:c.1750-60_1873-201del
ENST00000642365.1:c.374-60_497-201del
ENST00000642561.1:c.1717-60_1840-201del
ENST00000642797.1:c.1717-60_1840-201del
ENST00000642936.1:c.1717-60_1840-201del
ENST00000643088.1:c.1717-60_1840-201del
ENST00000643298.1:c.*1219-60_*1342-201del
ENST00000643946.1:c.1717-60_1840-201del
ENST00000644043.1:c.1717-60_1840-201del
ENST00000644135.1:c.*217-60_*340-201del
ENST00000644329.1:c.1717-60_1840-201del
ENST00000644335.1:c.1717-60_1840-201del
ENST00000644399.1:c.1710-60_1833-201del
ENST00000644847.1:n.709-60_832-201del
ENST00000646388.1:c.1717-60_1840-201del
ENST00000646634.1:n.730-60_853-201del
ENST00000219476.7:c.1717-60_1840-201del
ENST00000350773.8:c.1717-60_1840-201del
ENST00000382538.10:c.1570-60_1693-201del
ENST00000401874.6:c.1717-60_1840-201del
ENST00000439117.6:c.*1016-60_*1139-201del
ENST00000439673.6:c.1606-60_1729-201del
ENST00000488675.5:n.224-60_347-201del
ENST00000562474.1:n.442-60_565-201del
ENST00000568454.5:c.1750-60_1873-201del
ENST00000568566.5:c.357-60_480-201del
NM_000548.3:c.1717-60_1840-201del , LRG_487t1:c.1717-60_1840-201del
NM_001077183.1:c.1717-60_1840-201del
NM_001114382.1:c.1717-60_1840-201del
XM_005255529.3:c.1717-60_1840-201del
XM_005255531.3:c.1717-60_1840-201del
XM_011522636.1:c.1717-60_1840-201del
XM_011522637.1:c.1717-60_1840-201del
XM_011522638.1:c.1606-60_1729-201del
XM_011522639.1:c.1717-60_1840-201del
XM_011522640.1:c.1717-60_1840-201del
XM_011522641.1:c.1606-60_1729-201del
NM_000548.4:c.1717-60_1840-201del
NM_001077183.2:c.1717-60_1840-201del
NM_001114382.2:c.1717-60_1840-201del
NM_001318827.1:c.1606-60_1729-201del
NM_001318829.1:c.1570-60_1693-201del
NM_001318831.1:c.1117-60_1240-201del
NM_001318832.1:c.1750-60_1873-201del
NM_001363528.1:c.1717-60_1840-201del
NM_021055.2:c.1717-60_1840-201del
XM_005255531.4:c.1717-60_1840-201del
XM_011522636.2:c.1717-60_1840-201del
XM_011522637.2:c.1717-60_1840-201del
XM_011522638.2:c.1879-60_2002-201del
XM_011522639.2:c.1717-60_1840-201del
XM_011522640.2:c.1717-60_1840-201del
XM_017023615.1:c.1717-60_1840-201del
XM_017023616.1:c.1717-60_1840-201del
XM_017023617.1:c.1879-60_2002-201del
XM_017023618.1:c.373-60_496-201del
XM_024450413.1:c.1717-60_1840-201del
NM_000548.5:c.1717-60_1840-201del
NM_001370404.1:c.1717-60_1840-201del
NM_001370405.1:c.1717-60_1840-201del
NM_001077183.3:c.1717-60_1840-201del
NM_001114382.3:c.1717-60_1840-201del
NM_001318827.2:c.1606-60_1729-201del
NM_001318829.2:c.1570-60_1693-201del
NM_001318831.2:c.1117-60_1240-201del
NM_001318832.2:c.1750-60_1873-201del
NM_001363528.2:c.1717-60_1840-201del
NM_021055.3:c.1717-60_1840-201del