Canonical Allele Identifier: CA2580612746

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1328969
• ClinVar RCV Id: RCV001797860

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085232_2085237del , CM000678.2:g.2085232_2085237del	GRCh38
NC_000016.9:g.2135233_2135238del , CM000678.1:g.2135233_2135238del	GRCh37
NC_000016.8:g.2075234_2075239del	NCBI36
NG_005895.1:g.40927_40932del , LRG_487:g.40927_40932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2921_*2926del
ENST00000642206.2:c.4419_4424del
ENST00000642365.2:c.4569_4574del
ENST00000644417.2:c.*4952_*4957del
ENST00000646464.2:c.*7321_*7326del
ENST00000219476.9:c.4572_4577del
ENST00000350773.9:c.4503_4508del
ENST00000401874.7:c.4371_4376del
ENST00000568454.6:c.4404_4409del
ENST00000569110.2:c.795_800del
ENST00000569930.2:n.2454_2459del
ENST00000642365.1:c.3226_3231del
ENST00000642561.1:c.4443_4448del
ENST00000642728.1:n.754_759del
ENST00000642791.1:n.169_174del
ENST00000642797.1:c.4374_4379del
ENST00000642936.1:c.4440_4445del
ENST00000643088.1:c.4369-4_4370del
ENST00000643177.1:n.586_591del
ENST00000643426.1:n.2220_2225del
ENST00000643946.1:c.4501-4_4502del
ENST00000644043.1:c.4443_4448del
ENST00000644278.1:n.54_59del
ENST00000644329.1:c.4371_4376del
ENST00000644335.1:c.4372-4_4373del
ENST00000644399.1:c.4493_4498del
ENST00000645024.1:n.2656_2661del
ENST00000646388.1:c.4570-4_4571del
ENST00000646634.1:n.3387_3392del
ENST00000646674.1:n.1824_1829del
ENST00000647042.1:n.1795_1800del
ENST00000647180.1:n.1685_1690del
ENST00000219476.7:c.4572_4577del
ENST00000350773.8:c.4503_4508del
ENST00000382538.10:c.4227_4232del
ENST00000401874.6:c.4371_4376del
ENST00000439117.6:c.*3739_*3744del
ENST00000439673.6:c.4263_4268del
ENST00000497886.5:n.2330_2335del
ENST00000568454.5:c.4404_4409del
ENST00000569110.1:c.754_759del
ENST00000569930.1:n.1687_1692del
NM_000548.3:c.4572_4577del , LRG_487t1:c.4572_4577del
NM_001077183.1:c.4371_4376del
NM_001114382.1:c.4503_4508del
XM_005255529.3:c.4443_4448del
XM_005255531.3:c.4374_4379del
XM_011522636.1:c.4626_4631del
XM_011522637.1:c.4623_4628del
XM_011522638.1:c.4515_4520del
XM_011522639.1:c.4497_4502del
XM_011522640.1:c.4494_4499del
XM_011522641.1:c.4263_4268del
NM_000548.4:c.4572_4577del
NM_001077183.2:c.4371_4376del
NM_001114382.2:c.4503_4508del
NM_001318827.1:c.4263_4268del
NM_001318829.1:c.4227_4232del
NM_001318831.1:c.3840_3845del
NM_001318832.1:c.4404_4409del
NM_001363528.1:c.4374_4379del
NM_021055.2:c.4443_4448del
XM_005255531.4:c.4374_4379del
XM_011522636.2:c.4626_4631del
XM_011522637.2:c.4623_4628del
XM_011522638.2:c.4788_4793del
XM_011522639.2:c.4497_4502del
XM_011522640.2:c.4494_4499del
XM_017023615.1:c.4569_4574del
XM_017023616.1:c.4440_4445del
XM_017023617.1:c.4536_4541del
XM_017023618.1:c.3282_3287del
XM_024450413.1:c.4371_4376del
NM_000548.5:c.4572_4577del
NM_001370404.1:c.4440_4445del
NM_001370405.1:c.4443_4448del
NM_001077183.3:c.4371_4376del
NM_001114382.3:c.4503_4508del
NM_001318827.2:c.4263_4268del
NM_001318829.2:c.4227_4232del
NM_001318831.2:c.3840_3845del
NM_001318832.2:c.4404_4409del
NM_001363528.2:c.4374_4379del
NM_021055.3:c.4443_4448del