Canonical Allele Identifier: CA3267547540

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079638_2084520dup , CM000678.2:g.2079638_2084520dup	GRCh38
NC_000016.9:g.2129639_2134521dup , CM000678.1:g.2129639_2134521dup	GRCh37
NC_000016.8:g.2069640_2074522dup	NCBI36
NG_005895.1:g.35333_40215dup , LRG_487:g.35333_40215dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.3:c.3366_4298dup , LRG_487t1:c.3366_4298dup
NM_000548.4:c.3366_4298dup
NM_000548.5:c.3366_4298dup
NM_001077183.1:c.3234_4097dup
NM_001077183.2:c.3234_4097dup
NM_001077183.3:c.3234_4097dup
NM_001114382.1:c.3366_4229dup
NM_001114382.2:c.3366_4229dup
NM_001114382.3:c.3366_4229dup
NM_001318827.1:c.3126_3989dup
NM_001318827.2:c.3126_3989dup
NM_001318829.1:c.3090_3953dup
NM_001318829.2:c.3090_3953dup
NM_001318831.1:c.2634_3566dup
NM_001318831.2:c.2634_3566dup
NM_001318832.1:c.3267_4130dup
NM_001318832.2:c.3267_4130dup
NM_001363528.1:c.3237_4100dup
NM_001363528.2:c.3237_4100dup
NM_001370404.1:c.3234_4166dup
NM_001370405.1:c.3237_4169dup
NM_021055.2:c.3237_4169dup
NM_021055.3:c.3237_4169dup
ENST00000219476.7:c.3366_4298dup
ENST00000219476.9:c.3366_4298dup
ENST00000350773.8:c.3366_4229dup
ENST00000350773.9:c.3366_4229dup
ENST00000382538.10:c.3090_3953dup
ENST00000401874.6:c.3234_4097dup
ENST00000401874.7:c.3234_4097dup
ENST00000439117.6:c.*2533_*3465dup
ENST00000439673.6:c.3126_3989dup
ENST00000497886.5:n.1193_2056dup
ENST00000568454.5:c.3267_4130dup
ENST00000568454.6:c.3267_4130dup
ENST00000568566.6:c.*1784_*2647dup
ENST00000642206.2:c.3282_4145dup
ENST00000642365.1:c.2020_2952dup
ENST00000642365.2:c.3363_4295dup
ENST00000642561.1:c.3237_4169dup
ENST00000642797.1:c.3237_4100dup
ENST00000642936.1:c.3234_4166dup
ENST00000643088.1:c.3234_4097dup
ENST00000643946.1:c.3366_4229dup
ENST00000644043.1:c.3237_4169dup
ENST00000644329.1:c.3234_4097dup
ENST00000644335.1:c.3237_4100dup
ENST00000644399.1:c.3356_4219dup
ENST00000644417.2:c.*3815_*4678dup
ENST00000645024.1:n.1519_2382dup
ENST00000646388.1:c.3366_4298dup
ENST00000646464.2:c.*4288_*7047dup
ENST00000646634.1:n.2250_3113dup
ENST00000647042.1:n.658_1521dup
XM_005255529.3:c.3237_4169dup
XM_005255531.3:c.3237_4100dup
XM_005255531.4:c.3237_4100dup
XM_011522636.1:c.3366_4352dup
XM_011522636.2:c.3366_4352dup
XM_011522637.1:c.3363_4349dup
XM_011522637.2:c.3363_4349dup
XM_011522638.1:c.3255_4241dup
XM_011522638.2:c.3528_4514dup
XM_011522639.1:c.3237_4223dup
XM_011522639.2:c.3237_4223dup
XM_011522640.1:c.3234_4220dup
XM_011522640.2:c.3234_4220dup
XM_011522641.1:c.3126_3989dup
XM_017023615.1:c.3363_4295dup
XM_017023616.1:c.3234_4166dup
XM_017023617.1:c.3399_4262dup
XM_017023618.1:c.2022_3008dup
XM_024450413.1:c.3234_4097dup