Canonical Allele Identifier: CA263175
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50149
ClinVar RCV Id: RCV000043417
dbSNP Id: rs137854088

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2081595_2081611dup , CM000678.2:g.2081595_2081611dup GRCh38
NC_000016.9:g.2131596_2131612dup , CM000678.1:g.2131596_2131612dup GRCh37
NC_000016.8:g.2071597_2071613dup NCBI36
NG_005895.1:g.37290_37306dup , LRG_487:g.37290_37306dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.*2029_*2045dup
ENST00000642206.2:c.3527_3543dup
ENST00000642365.2:c.3608_3624dup
ENST00000644417.2:c.*4060_*4076dup
ENST00000646464.2:c.*4533_*4549dup
ENST00000219476.9:c.3611_3627dup
ENST00000350773.9:c.3611_3627dup
ENST00000401874.7:c.3479_3495dup
ENST00000568454.6:c.3512_3528dup
ENST00000642365.1:c.2265_2281dup
ENST00000642561.1:c.3482_3498dup
ENST00000642797.1:c.3482_3498dup
ENST00000642936.1:c.3479_3495dup
ENST00000643088.1:c.3479_3495dup
ENST00000643426.1:n.1259_1275dup
ENST00000643533.1:n.121_137dup
ENST00000643946.1:c.3611_3627dup
ENST00000644043.1:c.3482_3498dup
ENST00000644329.1:c.3479_3495dup
ENST00000644335.1:c.3482_3498dup
ENST00000644399.1:c.3601_3617dup
ENST00000644722.1:n.757_773dup
ENST00000645024.1:n.1764_1780dup
ENST00000646388.1:c.3611_3627dup
ENST00000646634.1:n.2495_2511dup
ENST00000646674.1:n.226_242dup
ENST00000647042.1:n.903_919dup
ENST00000647180.1:n.91_107dup
ENST00000219476.7:c.3611_3627dup
ENST00000350773.8:c.3611_3627dup
ENST00000382538.10:c.3335_3351dup
ENST00000401874.6:c.3479_3495dup
ENST00000439117.6:c.*2778_*2794dup
ENST00000439673.6:c.3371_3387dup
ENST00000497886.5:n.1438_1454dup
ENST00000568454.5:c.3512_3528dup
NM_000548.3:c.3611_3627dup , LRG_487t1:c.3611_3627dup
NM_001077183.1:c.3479_3495dup
NM_001114382.1:c.3611_3627dup
XM_005255529.3:c.3482_3498dup
XM_005255531.3:c.3482_3498dup
XM_011522636.1:c.3611_3627dup
XM_011522637.1:c.3608_3624dup
XM_011522638.1:c.3500_3516dup
XM_011522639.1:c.3482_3498dup
XM_011522640.1:c.3479_3495dup
XM_011522641.1:c.3371_3387dup
NM_000548.4:c.3611_3627dup
NM_001077183.2:c.3479_3495dup
NM_001114382.2:c.3611_3627dup
NM_001318827.1:c.3371_3387dup
NM_001318829.1:c.3335_3351dup
NM_001318831.1:c.2879_2895dup
NM_001318832.1:c.3512_3528dup
NM_001363528.1:c.3482_3498dup
NM_021055.2:c.3482_3498dup
XM_005255531.4:c.3482_3498dup
XM_011522636.2:c.3611_3627dup
XM_011522637.2:c.3608_3624dup
XM_011522638.2:c.3773_3789dup
XM_011522639.2:c.3482_3498dup
XM_011522640.2:c.3479_3495dup
XM_017023615.1:c.3608_3624dup
XM_017023616.1:c.3479_3495dup
XM_017023617.1:c.3644_3660dup
XM_017023618.1:c.2267_2283dup
XM_024450413.1:c.3479_3495dup
NM_000548.5:c.3611_3627dup
NM_001370404.1:c.3479_3495dup
NM_001370405.1:c.3482_3498dup
NM_001077183.3:c.3479_3495dup
NM_001114382.3:c.3611_3627dup
NM_001318827.2:c.3371_3387dup
NM_001318829.2:c.3335_3351dup
NM_001318831.2:c.2879_2895dup
NM_001318832.2:c.3512_3528dup
NM_001363528.2:c.3482_3498dup
NM_021055.3:c.3482_3498dup