Canonical Allele Identifier: CA2697549443

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2729561
• ClinVar RCV Id: RCV003513468

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088308_2088468del , CM000678.2:g.2088308_2088468del	GRCh38
NC_000016.9:g.2138309_2138469del , CM000678.1:g.2138309_2138469del	GRCh37
NC_000016.8:g.2078310_2078470del	NCBI36
NG_005895.1:g.44003_44163del , LRG_487:g.44003_44163del
NG_008617.1:g.54755_54915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3591_*3631del
ENST00000642206.2:c.5089_5129del
ENST00000642365.2:c.5239_5279del
ENST00000644417.2:c.*5755_*5795del
ENST00000646464.2:c.*7991_*8031del
ENST00000219476.9:c.5242_5282del
ENST00000350773.9:c.5173_5213del
ENST00000401874.7:c.5041_5081del
ENST00000568454.6:c.5074_5114del
ENST00000569110.2:c.1465_1505del
ENST00000569930.2:n.3124_3164del
ENST00000642365.1:c.3896_3936del
ENST00000642561.1:c.5101_5141del
ENST00000642791.1:n.839_879del
ENST00000642797.1:c.5044_5084del
ENST00000642936.1:c.5110_5150del
ENST00000643088.1:c.5035_5075del
ENST00000643426.1:n.2890_2930del
ENST00000643946.1:c.5167_5207del
ENST00000644043.1:c.5113_5153del
ENST00000644329.1:c.5128_5168del
ENST00000644335.1:c.5038_5078del
ENST00000644399.1:c.5163_5203del
ENST00000645024.1:n.3326_3366del
ENST00000646388.1:c.5236_5276del
ENST00000646634.1:n.4057_4097del
ENST00000646674.1:n.2494_2534del
ENST00000647042.1:n.2465_2505del
ENST00000647180.1:n.2355_2395del
ENST00000219476.7:c.5242_5282del
ENST00000350773.8:c.5173_5213del
ENST00000382538.10:c.4897_4937del
ENST00000401874.6:c.5041_5081del
ENST00000439117.6:c.*4409_*4449del
ENST00000439673.6:c.4933_4973del
ENST00000497886.5:n.2965_3005del
ENST00000568454.5:c.5074_5114del
ENST00000569110.1:c.1424_1464del
ENST00000569930.1:n.2357_2397del
NM_000548.3:c.5242_5282del , LRG_487t1:c.5242_5282del
NM_001077183.1:c.5041_5081del
NM_001114382.1:c.5173_5213del
XM_005255529.3:c.5113_5153del
XM_005255531.3:c.5044_5084del
XM_011522636.1:c.5296_5336del
XM_011522637.1:c.5293_5333del
XM_011522638.1:c.5185_5225del
XM_011522639.1:c.5167_5207del
XM_011522640.1:c.5164_5204del
XM_011522641.1:c.4933_4973del
NM_000548.4:c.5242_5282del
NM_001077183.2:c.5041_5081del
NM_001114382.2:c.5173_5213del
NM_001318827.1:c.4933_4973del
NM_001318829.1:c.4897_4937del
NM_001318831.1:c.4510_4550del
NM_001318832.1:c.5074_5114del
NM_001363528.1:c.5044_5084del
NM_021055.2:c.5113_5153del
XM_005255531.4:c.5044_5084del
XM_011522636.2:c.5296_5336del
XM_011522637.2:c.5293_5333del
XM_011522638.2:c.5458_5498del
XM_011522639.2:c.5167_5207del
XM_011522640.2:c.5164_5204del
XM_017023615.1:c.5239_5279del
XM_017023616.1:c.5110_5150del
XM_017023617.1:c.5206_5246del
XM_017023618.1:c.3952_3992del
XM_024450413.1:c.5128_5168del
NM_000548.5:c.5242_5282del
NM_001370404.1:c.5110_5150del
NM_001370405.1:c.5101_5141del
NM_001077183.3:c.5041_5081del
NM_001114382.3:c.5173_5213del
NM_001318827.2:c.4933_4973del
NM_001318829.2:c.4897_4937del
NM_001318831.2:c.4510_4550del
NM_001318832.2:c.5074_5114del
NM_001363528.2:c.5044_5084del
NM_021055.3:c.5113_5153del