Canonical Allele Identifier: CA2202029525

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1000517
• ClinVar RCV Id: RCV001296660
• dbSNP Id: rs2091058869

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2087938_2087948dup , CM000678.2:g.2087938_2087948dup	GRCh38
NC_000016.9:g.2137939_2137949dup , CM000678.1:g.2137939_2137949dup	GRCh37
NC_000016.8:g.2077940_2077950dup	NCBI36
NG_005895.1:g.43633_43643dup , LRG_487:g.43633_43643dup
NG_008617.1:g.55273_55283dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3414_*3417+7dup
ENST00000642206.2:c.4912_4915+7dup
ENST00000642365.2:c.5062_5065+7dup
ENST00000644417.2:c.*5578_*5581+7dup
ENST00000646464.2:c.*7814_*7817+7dup
ENST00000219476.9:c.5065_5068+7dup
ENST00000350773.9:c.4996_4999+7dup
ENST00000401874.7:c.4864_4867+7dup
ENST00000568454.6:c.4897_4900+7dup
ENST00000569110.2:c.1288_1291+7dup
ENST00000569930.2:n.2947_2950+7dup
ENST00000642365.1:c.3719_3722+7dup
ENST00000642561.1:c.4936_4939+7dup
ENST00000642791.1:n.662_665+7dup
ENST00000642797.1:c.4867_4870+7dup
ENST00000642936.1:c.4933_4936+7dup
ENST00000643088.1:c.4858_4861+7dup
ENST00000643177.1:n.1079_1089dup
ENST00000643426.1:n.2713_2716+7dup
ENST00000643946.1:c.4990_4993+7dup
ENST00000644043.1:c.4936_4939+7dup
ENST00000644278.1:n.547_557dup
ENST00000644329.1:c.4864_4867+7dup
ENST00000644335.1:c.4861_4864+7dup
ENST00000644399.1:c.4986_4989+7dup
ENST00000645024.1:n.3149_3152+7dup
ENST00000646388.1:c.5059_5062+7dup
ENST00000646634.1:n.3880_3883+7dup
ENST00000646674.1:n.2317_2320+7dup
ENST00000647042.1:n.2288_2291+7dup
ENST00000647180.1:n.2178_2181+7dup
ENST00000219476.7:c.5065_5068+7dup
ENST00000350773.8:c.4996_4999+7dup
ENST00000382538.10:c.4720_4723+7dup
ENST00000401874.6:c.4864_4867+7dup
ENST00000439117.6:c.*4232_*4235+7dup
ENST00000439673.6:c.4756_4759+7dup
ENST00000497886.5:n.2788_2791+7dup
ENST00000568454.5:c.4897_4900+7dup
ENST00000569110.1:c.1247_1250+7dup
ENST00000569930.1:n.2180_2183+7dup
NM_000548.3:c.5065_5068+7dup , LRG_487t1:c.5065_5068+7dup
NM_001077183.1:c.4864_4867+7dup
NM_001114382.1:c.4996_4999+7dup
XM_005255529.3:c.4936_4939+7dup
XM_005255531.3:c.4867_4870+7dup
XM_011522636.1:c.5119_5122+7dup
XM_011522637.1:c.5116_5119+7dup
XM_011522638.1:c.5008_5011+7dup
XM_011522639.1:c.4990_4993+7dup
XM_011522640.1:c.4987_4990+7dup
XM_011522641.1:c.4756_4759+7dup
NM_000548.4:c.5065_5068+7dup
NM_001077183.2:c.4864_4867+7dup
NM_001114382.2:c.4996_4999+7dup
NM_001318827.1:c.4756_4759+7dup
NM_001318829.1:c.4720_4723+7dup
NM_001318831.1:c.4333_4336+7dup
NM_001318832.1:c.4897_4900+7dup
NM_001363528.1:c.4867_4870+7dup
NM_021055.2:c.4936_4939+7dup
XM_005255531.4:c.4867_4870+7dup
XM_011522636.2:c.5119_5122+7dup
XM_011522637.2:c.5116_5119+7dup
XM_011522638.2:c.5281_5284+7dup
XM_011522639.2:c.4990_4993+7dup
XM_011522640.2:c.4987_4990+7dup
XM_017023615.1:c.5062_5065+7dup
XM_017023616.1:c.4933_4936+7dup
XM_017023617.1:c.5029_5032+7dup
XM_017023618.1:c.3775_3778+7dup
XM_024450413.1:c.4864_4867+7dup
NM_000548.5:c.5065_5068+7dup
NM_001370404.1:c.4933_4936+7dup
NM_001370405.1:c.4936_4939+7dup
NM_001077183.3:c.4864_4867+7dup
NM_001114382.3:c.4996_4999+7dup
NM_001318827.2:c.4756_4759+7dup
NM_001318829.2:c.4720_4723+7dup
NM_001318831.2:c.4333_4336+7dup
NM_001318832.2:c.4897_4900+7dup
NM_001363528.2:c.4867_4870+7dup
NM_021055.3:c.4936_4939+7dup