Canonical Allele Identifier: CA3267547542

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079638_2084540dup , CM000678.2:g.2079638_2084540dup	GRCh38
NC_000016.9:g.2129639_2134541dup , CM000678.1:g.2129639_2134541dup	GRCh37
NC_000016.8:g.2069640_2074542dup	NCBI36
NG_005895.1:g.35333_40235dup , LRG_487:g.35333_40235dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.3:c.3366_4318dup , LRG_487t1:c.3366_4318dup
NM_000548.4:c.3366_4318dup
NM_000548.5:c.3366_4318dup
NM_001077183.1:c.3234_4117dup
NM_001077183.2:c.3234_4117dup
NM_001077183.3:c.3234_4117dup
NM_001114382.1:c.3366_4249dup
NM_001114382.2:c.3366_4249dup
NM_001114382.3:c.3366_4249dup
NM_001318827.1:c.3126_4009dup
NM_001318827.2:c.3126_4009dup
NM_001318829.1:c.3090_3973dup
NM_001318829.2:c.3090_3973dup
NM_001318831.1:c.2634_3586dup
NM_001318831.2:c.2634_3586dup
NM_001318832.1:c.3267_4150dup
NM_001318832.2:c.3267_4150dup
NM_001363528.1:c.3237_4120dup
NM_001363528.2:c.3237_4120dup
NM_001370404.1:c.3234_4186dup
NM_001370405.1:c.3237_4189dup
NM_021055.2:c.3237_4189dup
NM_021055.3:c.3237_4189dup
ENST00000219476.7:c.3366_4318dup
ENST00000219476.9:c.3366_4318dup
ENST00000350773.8:c.3366_4249dup
ENST00000350773.9:c.3366_4249dup
ENST00000382538.10:c.3090_3973dup
ENST00000401874.6:c.3234_4117dup
ENST00000401874.7:c.3234_4117dup
ENST00000439117.6:c.*2533_*3485dup
ENST00000439673.6:c.3126_4009dup
ENST00000497886.5:n.1193_2076dup
ENST00000568454.5:c.3267_4150dup
ENST00000568454.6:c.3267_4150dup
ENST00000568566.6:c.*1784_*2667dup
ENST00000642206.2:c.3282_4165dup
ENST00000642365.1:c.2020_2972dup
ENST00000642365.2:c.3363_4315dup
ENST00000642561.1:c.3237_4189dup
ENST00000642797.1:c.3237_4120dup
ENST00000642936.1:c.3234_4186dup
ENST00000643088.1:c.3234_4117dup
ENST00000643946.1:c.3366_4249dup
ENST00000644043.1:c.3237_4189dup
ENST00000644329.1:c.3234_4117dup
ENST00000644335.1:c.3237_4120dup
ENST00000644399.1:c.3356_4239dup
ENST00000644417.2:c.*3815_*4698dup
ENST00000645024.1:n.1519_2402dup
ENST00000646388.1:c.3366_4318dup
ENST00000646464.2:c.*4288_*7067dup
ENST00000646634.1:n.2250_3133dup
ENST00000647042.1:n.658_1541dup
XM_005255529.3:c.3237_4189dup
XM_005255531.3:c.3237_4120dup
XM_005255531.4:c.3237_4120dup
XM_011522636.1:c.3366_4372dup
XM_011522636.2:c.3366_4372dup
XM_011522637.1:c.3363_4369dup
XM_011522637.2:c.3363_4369dup
XM_011522638.1:c.3255_4261dup
XM_011522638.2:c.3528_4534dup
XM_011522639.1:c.3237_4243dup
XM_011522639.2:c.3237_4243dup
XM_011522640.1:c.3234_4240dup
XM_011522640.2:c.3234_4240dup
XM_011522641.1:c.3126_4009dup
XM_017023615.1:c.3363_4315dup
XM_017023616.1:c.3234_4186dup
XM_017023617.1:c.3399_4282dup
XM_017023618.1:c.2022_3028dup
XM_024450413.1:c.3234_4117dup