Canonical Allele Identifier: CA2631118696

Gene: TSC2

Linked Data

• gnomAD v4: 16-2088302-C-CACATCAAGCGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088303_2088315dup , CM000678.2:g.2088303_2088315dup	GRCh38
NC_000016.9:g.2138304_2138316dup , CM000678.1:g.2138304_2138316dup	GRCh37
NC_000016.8:g.2078305_2078317dup	NCBI36
NG_005895.1:g.43998_44010dup , LRG_487:g.43998_44010dup
NG_008617.1:g.54906_54918dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3586_*3598dup	ENSP00000455997.2:n.*3586_*3598dup
ENST00000642206.2:c.5084_5096dup	ENSP00000495146.2:p.Arg1700HisfsTer28
ENST00000642365.2:c.5234_5246dup	ENSP00000495459.2:p.Arg1750HisfsTer28
ENST00000644417.2:c.*5750_*5762dup	ENSP00000493912.2:n.*5750_*5762dup
ENST00000646464.2:c.*7986_*7998dup	ENSP00000496610.2:n.*7986_*7998dup
ENST00000219476.9:c.5237_5249dup MANE Select	ENSP00000219476.3:p.Arg1751HisfsTer28
ENST00000350773.9:c.5168_5180dup	ENSP00000344383.4:p.Arg1728HisfsTer28
ENST00000401874.7:c.5036_5048dup	ENSP00000384468.2:p.Arg1684HisfsTer28
ENST00000568454.6:c.5069_5081dup	ENSP00000454487.1:p.Arg1695HisfsTer28
ENST00000569110.2:c.1460_1472dup
ENST00000569930.2:n.3119_3131dup
ENST00000642365.1:c.3891_3903dup
ENST00000642561.1:c.5096_5108dup	ENSP00000495099.1:p.Arg1704HisfsTer28
ENST00000642791.1:n.834_846dup
ENST00000642797.1:c.5039_5051dup	ENSP00000493846.1:p.Arg1685HisfsTer28
ENST00000642936.1:c.5105_5117dup	ENSP00000494514.1:p.Arg1707HisfsTer28
ENST00000643088.1:c.5030_5042dup	ENSP00000494747.1:p.Arg1682HisfsTer28
ENST00000643426.1:n.2885_2897dup
ENST00000643946.1:c.5162_5174dup	ENSP00000495927.1:p.Arg1726HisfsTer28
ENST00000644043.1:c.5108_5120dup	ENSP00000496262.1:p.Arg1708HisfsTer28
ENST00000644329.1:c.5123_5135dup	ENSP00000496611.1:p.Arg1713HisfsTer28
ENST00000644335.1:c.5033_5045dup	ENSP00000496317.1:p.Arg1683HisfsTer28
ENST00000644399.1:c.5158_5170dup
ENST00000645024.1:n.3321_3333dup
ENST00000646388.1:c.5231_5243dup	ENSP00000495921.1:p.Arg1749HisfsTer28
ENST00000646634.1:n.4052_4064dup
ENST00000646674.1:n.2489_2501dup
ENST00000647042.1:n.2460_2472dup
ENST00000647180.1:n.2350_2362dup
ENST00000219476.7:c.5237_5249dup	ENSP00000219476.3:p.Arg1751HisfsTer28
ENST00000350773.8:c.5168_5180dup	ENSP00000344383.4:p.Arg1728HisfsTer28
ENST00000382538.10:c.4892_4904dup	ENSP00000371978.6:p.Arg1636HisfsTer28
ENST00000401874.6:c.5036_5048dup	ENSP00000384468.2:p.Arg1684HisfsTer28
ENST00000439117.6:c.*4404_*4416dup	ENSP00000406980.2:n.*4404_*4416dup
ENST00000439673.6:c.4928_4940dup	ENSP00000399232.2:p.Arg1648HisfsTer28
ENST00000497886.5:n.2960_2972dup
ENST00000568454.5:c.5069_5081dup	ENSP00000454487.1:p.Arg1695HisfsTer28
ENST00000569110.1:c.1419_1431dup
ENST00000569930.1:n.2352_2364dup
NM_000548.3:c.5237_5249dup , LRG_487t1:c.5237_5249dup	NP_000539.2:p.Arg1751HisfsTer28
NM_001077183.1:c.5036_5048dup	NP_001070651.1:p.Arg1684HisfsTer28
NM_001114382.1:c.5168_5180dup	NP_001107854.1:p.Arg1728HisfsTer28
XM_005255529.3:c.5108_5120dup	XP_005255586.2:p.Arg1708HisfsTer28
XM_005255531.3:c.5039_5051dup	XP_005255588.2:p.Arg1685HisfsTer28
XM_011522636.1:c.5291_5303dup	XP_011520938.1:p.Arg1769HisfsTer28
XM_011522637.1:c.5288_5300dup	XP_011520939.1:p.Arg1768HisfsTer28
XM_011522638.1:c.5180_5192dup	XP_011520940.1:p.Arg1732HisfsTer28
XM_011522639.1:c.5162_5174dup	XP_011520941.1:p.Arg1726HisfsTer28
XM_011522640.1:c.5159_5171dup	XP_011520942.1:p.Arg1725HisfsTer28
XM_011522641.1:c.4928_4940dup	XP_011520943.1:p.Arg1648HisfsTer28
NM_000548.4:c.5237_5249dup	NP_000539.2:p.Arg1751HisfsTer28
NM_001077183.2:c.5036_5048dup	NP_001070651.1:p.Arg1684HisfsTer28
NM_001114382.2:c.5168_5180dup	NP_001107854.1:p.Arg1728HisfsTer28
NM_001318827.1:c.4928_4940dup	NP_001305756.1:p.Arg1648HisfsTer28
NM_001318829.1:c.4892_4904dup	NP_001305758.1:p.Arg1636HisfsTer28
NM_001318831.1:c.4505_4517dup	NP_001305760.1:p.Arg1507HisfsTer28
NM_001318832.1:c.5069_5081dup	NP_001305761.1:p.Arg1695HisfsTer28
NM_001363528.1:c.5039_5051dup	NP_001350457.1:p.Arg1685HisfsTer28
NM_021055.2:c.5108_5120dup	NP_066399.2:p.Arg1708HisfsTer28
XM_005255531.4:c.5039_5051dup	XP_005255588.2:p.Arg1685HisfsTer28
XM_011522636.2:c.5291_5303dup	XP_011520938.1:p.Arg1769HisfsTer28
XM_011522637.2:c.5288_5300dup	XP_011520939.1:p.Arg1768HisfsTer28
XM_011522638.2:c.5453_5465dup	XP_011520940.2:p.Arg1823HisfsTer28
XM_011522639.2:c.5162_5174dup	XP_011520941.1:p.Arg1726HisfsTer28
XM_011522640.2:c.5159_5171dup	XP_011520942.1:p.Arg1725HisfsTer28
XM_017023615.1:c.5234_5246dup	XP_016879104.1:p.Arg1750HisfsTer28
XM_017023616.1:c.5105_5117dup	XP_016879105.1:p.Arg1707HisfsTer28
XM_017023617.1:c.5201_5213dup	XP_016879106.1:p.Arg1739HisfsTer28
XM_017023618.1:c.3947_3959dup	XP_016879107.1:p.Arg1321HisfsTer28
XM_024450413.1:c.5123_5135dup	XP_024306181.1:p.Arg1713HisfsTer28
NM_000548.5:c.5237_5249dup MANE Select	NP_000539.2:p.Arg1751HisfsTer28
NM_001370404.1:c.5105_5117dup	NP_001357333.1:p.Arg1707HisfsTer28
NM_001370405.1:c.5096_5108dup	NP_001357334.1:p.Arg1704HisfsTer28
NM_001077183.3:c.5036_5048dup	NP_001070651.1:p.Arg1684HisfsTer28
NM_001114382.3:c.5168_5180dup	NP_001107854.1:p.Arg1728HisfsTer28
NM_001318827.2:c.4928_4940dup	NP_001305756.1:p.Arg1648HisfsTer28
NM_001318829.2:c.4892_4904dup	NP_001305758.1:p.Arg1636HisfsTer28
NM_001318831.2:c.4505_4517dup	NP_001305760.1:p.Arg1507HisfsTer28
NM_001318832.2:c.5069_5081dup	NP_001305761.1:p.Arg1695HisfsTer28
NM_001363528.2:c.5039_5051dup	NP_001350457.1:p.Arg1685HisfsTer28
NM_021055.3:c.5108_5120dup	NP_066399.2:p.Arg1708HisfsTer28