Canonical Allele Identifier: CA214885
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65201
ClinVar RCV Id: RCV000055418
dbSNP Id: rs1555505940

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2071780_2071867del , CM000678.2:g.2071780_2071867del GRCh38
NC_000016.9:g.2121781_2121868del , CM000678.1:g.2121781_2121868del GRCh37
NC_000016.8:g.2061782_2061869del NCBI36
NG_005895.1:g.27475_27562del , LRG_487:g.27475_27562del

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*494-4_*577del
ENST00000642206.2:c.1992-4_2075del
ENST00000642365.2:c.1947-4_2030del
ENST00000644417.2:c.*1384-4_*1467del
ENST00000646464.2:c.*1552-4_*1635del
ENST00000219476.9:c.1947-4_2030del
ENST00000350773.9:c.1947-4_2030del
ENST00000401874.7:c.1947-4_2030del
ENST00000563346.2:n.121_208del
ENST00000568454.6:c.1980-4_2063del
ENST00000642365.1:c.604-4_687del
ENST00000642561.1:c.1947-4_2030del
ENST00000642797.1:c.1947-4_2030del
ENST00000642936.1:c.1947-4_2030del
ENST00000643088.1:c.1947-4_2030del
ENST00000643298.1:c.*1449-4_*1532del
ENST00000643946.1:c.1947-4_2030del
ENST00000644043.1:c.1947-4_2030del
ENST00000644329.1:c.1947-4_2030del
ENST00000644335.1:c.1947-4_2030del
ENST00000644399.1:c.1940-4_2023del
ENST00000644847.1:n.939-4_1022del
ENST00000645024.1:n.229-4_312del
ENST00000645552.1:n.227-4_310del
ENST00000646388.1:c.1947-4_2030del
ENST00000646634.1:n.960-4_1043del
ENST00000219476.7:c.1947-4_2030del
ENST00000350773.8:c.1947-4_2030del
ENST00000382538.10:c.1800-4_1883del
ENST00000401874.6:c.1947-4_2030del
ENST00000439117.6:c.*1246-4_*1329del
ENST00000439673.6:c.1836-4_1919del
ENST00000488675.5:n.454-4_537del
ENST00000563346.1:n.12_99del
ENST00000568454.5:c.1980-4_2063del
NM_000548.3:c.1947-4_2030del , LRG_487t1:c.1947-4_2030del
NM_001077183.1:c.1947-4_2030del
NM_001114382.1:c.1947-4_2030del
XM_005255529.3:c.1947-4_2030del
XM_005255531.3:c.1947-4_2030del
XM_011522636.1:c.1947-4_2030del
XM_011522637.1:c.1947-4_2030del
XM_011522638.1:c.1836-4_1919del
XM_011522639.1:c.1947-4_2030del
XM_011522640.1:c.1947-4_2030del
XM_011522641.1:c.1836-4_1919del
NM_000548.4:c.1947-4_2030del
NM_001077183.2:c.1947-4_2030del
NM_001114382.2:c.1947-4_2030del
NM_001318827.1:c.1836-4_1919del
NM_001318829.1:c.1800-4_1883del
NM_001318831.1:c.1347-4_1430del
NM_001318832.1:c.1980-4_2063del
NM_001363528.1:c.1947-4_2030del
NM_021055.2:c.1947-4_2030del
XM_005255531.4:c.1947-4_2030del
XM_011522636.2:c.1947-4_2030del
XM_011522637.2:c.1947-4_2030del
XM_011522638.2:c.2109-4_2192del
XM_011522639.2:c.1947-4_2030del
XM_011522640.2:c.1947-4_2030del
XM_017023615.1:c.1947-4_2030del
XM_017023616.1:c.1947-4_2030del
XM_017023617.1:c.2109-4_2192del
XM_017023618.1:c.603-4_686del
XM_024450413.1:c.1947-4_2030del
NM_000548.5:c.1947-4_2030del
NM_001370404.1:c.1947-4_2030del
NM_001370405.1:c.1947-4_2030del
NM_001077183.3:c.1947-4_2030del
NM_001114382.3:c.1947-4_2030del
NM_001318827.2:c.1836-4_1919del
NM_001318829.2:c.1800-4_1883del
NM_001318831.2:c.1347-4_1430del
NM_001318832.2:c.1980-4_2063del
NM_001363528.2:c.1947-4_2030del
NM_021055.3:c.1947-4_2030del