Canonical Allele Identifier: CA913184877

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088312_2088319dup , CM000678.2:g.2088312_2088319dup	GRCh38
NC_000016.9:g.2138313_2138320dup , CM000678.1:g.2138313_2138320dup	GRCh37
NC_000016.8:g.2078314_2078321dup	NCBI36
NG_005895.1:g.44007_44014dup , LRG_487:g.44007_44014dup
NG_008617.1:g.54904_54911dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3595_*3602dup	ENSP00000455997.2:n.*3595_*3602dup
ENST00000642206.2:c.5093_5100dup	ENSP00000495146.2:p.Gln1701GlyfsTer?
ENST00000642365.2:c.5243_5250dup	ENSP00000495459.2:p.Gln1751GlyfsTer?
ENST00000644417.2:c.*5759_*5766dup	ENSP00000493912.2:n.*5759_*5766dup
ENST00000646464.2:c.*7995_*8002dup	ENSP00000496610.2:n.*7995_*8002dup
ENST00000219476.9:c.5246_5253dup MANE Select	ENSP00000219476.3:p.Gln1752GlyfsTer?
ENST00000350773.9:c.5177_5184dup	ENSP00000344383.4:p.Gln1729GlyfsTer?
ENST00000401874.7:c.5045_5052dup	ENSP00000384468.2:p.Gln1685GlyfsTer?
ENST00000568454.6:c.5078_5085dup	ENSP00000454487.1:p.Gln1696GlyfsTer?
ENST00000569110.2:c.1469_1476dup
ENST00000569930.2:n.3128_3135dup
ENST00000642365.1:c.3900_3907dup
ENST00000642561.1:c.5105_5112dup	ENSP00000495099.1:p.Gln1705GlyfsTer?
ENST00000642791.1:n.843_850dup
ENST00000642797.1:c.5048_5055dup	ENSP00000493846.1:p.Gln1686GlyfsTer?
ENST00000642936.1:c.5114_5121dup	ENSP00000494514.1:p.Gln1708GlyfsTer?
ENST00000643088.1:c.5039_5046dup	ENSP00000494747.1:p.Gln1683GlyfsTer?
ENST00000643426.1:n.2894_2901dup
ENST00000643946.1:c.5171_5178dup	ENSP00000495927.1:p.Gln1727GlyfsTer?
ENST00000644043.1:c.5117_5124dup	ENSP00000496262.1:p.Gln1709GlyfsTer?
ENST00000644329.1:c.5132_5139dup	ENSP00000496611.1:p.Gln1714GlyfsTer?
ENST00000644335.1:c.5042_5049dup	ENSP00000496317.1:p.Gln1684GlyfsTer?
ENST00000644399.1:c.5167_5174dup
ENST00000645024.1:n.3330_3337dup
ENST00000646388.1:c.5240_5247dup	ENSP00000495921.1:p.Gln1750GlyfsTer?
ENST00000646634.1:n.4061_4068dup
ENST00000646674.1:n.2498_2505dup
ENST00000647042.1:n.2469_2476dup
ENST00000647180.1:n.2359_2366dup
ENST00000219476.7:c.5246_5253dup	ENSP00000219476.3:p.Gln1752GlyfsTer?
ENST00000350773.8:c.5177_5184dup	ENSP00000344383.4:p.Gln1729GlyfsTer?
ENST00000382538.10:c.4901_4908dup	ENSP00000371978.6:p.Gln1637GlyfsTer?
ENST00000401874.6:c.5045_5052dup	ENSP00000384468.2:p.Gln1685GlyfsTer?
ENST00000439117.6:c.*4413_*4420dup	ENSP00000406980.2:n.*4413_*4420dup
ENST00000439673.6:c.4937_4944dup	ENSP00000399232.2:p.Gln1649GlyfsTer?
ENST00000497886.5:n.2969_2976dup
ENST00000568454.5:c.5078_5085dup	ENSP00000454487.1:p.Gln1696GlyfsTer?
ENST00000569110.1:c.1428_1435dup
ENST00000569930.1:n.2361_2368dup
NM_000548.3:c.5246_5253dup , LRG_487t1:c.5246_5253dup	NP_000539.2:p.Gln1752GlyfsTer?
NM_001077183.1:c.5045_5052dup	NP_001070651.1:p.Gln1685GlyfsTer?
NM_001114382.1:c.5177_5184dup	NP_001107854.1:p.Gln1729GlyfsTer?
XM_005255529.3:c.5117_5124dup	XP_005255586.2:p.Gln1709GlyfsTer?
XM_005255531.3:c.5048_5055dup	XP_005255588.2:p.Gln1686GlyfsTer?
XM_011522636.1:c.5300_5307dup	XP_011520938.1:p.Gln1770GlyfsTer?
XM_011522637.1:c.5297_5304dup	XP_011520939.1:p.Gln1769GlyfsTer?
XM_011522638.1:c.5189_5196dup	XP_011520940.1:p.Gln1733GlyfsTer?
XM_011522639.1:c.5171_5178dup	XP_011520941.1:p.Gln1727GlyfsTer?
XM_011522640.1:c.5168_5175dup	XP_011520942.1:p.Gln1726GlyfsTer?
XM_011522641.1:c.4937_4944dup	XP_011520943.1:p.Gln1649GlyfsTer?
NM_000548.4:c.5246_5253dup	NP_000539.2:p.Gln1752GlyfsTer?
NM_001077183.2:c.5045_5052dup	NP_001070651.1:p.Gln1685GlyfsTer?
NM_001114382.2:c.5177_5184dup	NP_001107854.1:p.Gln1729GlyfsTer?
NM_001318827.1:c.4937_4944dup	NP_001305756.1:p.Gln1649GlyfsTer?
NM_001318829.1:c.4901_4908dup	NP_001305758.1:p.Gln1637GlyfsTer?
NM_001318831.1:c.4514_4521dup	NP_001305760.1:p.Gln1508GlyfsTer?
NM_001318832.1:c.5078_5085dup	NP_001305761.1:p.Gln1696GlyfsTer?
NM_001363528.1:c.5048_5055dup	NP_001350457.1:p.Gln1686GlyfsTer?
NM_021055.2:c.5117_5124dup	NP_066399.2:p.Gln1709GlyfsTer?
XM_005255531.4:c.5048_5055dup	XP_005255588.2:p.Gln1686GlyfsTer?
XM_011522636.2:c.5300_5307dup	XP_011520938.1:p.Gln1770GlyfsTer?
XM_011522637.2:c.5297_5304dup	XP_011520939.1:p.Gln1769GlyfsTer?
XM_011522638.2:c.5462_5469dup	XP_011520940.2:p.Gln1824GlyfsTer?
XM_011522639.2:c.5171_5178dup	XP_011520941.1:p.Gln1727GlyfsTer?
XM_011522640.2:c.5168_5175dup	XP_011520942.1:p.Gln1726GlyfsTer?
XM_017023615.1:c.5243_5250dup	XP_016879104.1:p.Gln1751GlyfsTer?
XM_017023616.1:c.5114_5121dup	XP_016879105.1:p.Gln1708GlyfsTer?
XM_017023617.1:c.5210_5217dup	XP_016879106.1:p.Gln1740GlyfsTer?
XM_017023618.1:c.3956_3963dup	XP_016879107.1:p.Gln1322GlyfsTer?
XM_024450413.1:c.5132_5139dup	XP_024306181.1:p.Gln1714GlyfsTer?
NM_000548.5:c.5246_5253dup MANE Select	NP_000539.2:p.Gln1752GlyfsTer?
NM_001370404.1:c.5114_5121dup	NP_001357333.1:p.Gln1708GlyfsTer?
NM_001370405.1:c.5105_5112dup	NP_001357334.1:p.Gln1705GlyfsTer?
NM_001077183.3:c.5045_5052dup	NP_001070651.1:p.Gln1685GlyfsTer?
NM_001114382.3:c.5177_5184dup	NP_001107854.1:p.Gln1729GlyfsTer?
NM_001318827.2:c.4937_4944dup	NP_001305756.1:p.Gln1649GlyfsTer?
NM_001318829.2:c.4901_4908dup	NP_001305758.1:p.Gln1637GlyfsTer?
NM_001318831.2:c.4514_4521dup	NP_001305760.1:p.Gln1508GlyfsTer?
NM_001318832.2:c.5078_5085dup	NP_001305761.1:p.Gln1696GlyfsTer?
NM_001363528.2:c.5048_5055dup	NP_001350457.1:p.Gln1686GlyfsTer?
NM_021055.3:c.5117_5124dup	NP_066399.2:p.Gln1709GlyfsTer?