Canonical Allele Identifier: CA2695221753

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088247_2088248del , CM000678.2:g.2088247_2088248del	GRCh38
NC_000016.9:g.2138248_2138249del , CM000678.1:g.2138248_2138249del	GRCh37
NC_000016.8:g.2078249_2078250del	NCBI36
NG_005895.1:g.43942_43943del , LRG_487:g.43942_43943del
NG_008617.1:g.54974_54975del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3530_*3531del	ENSP00000455997.2:n.*3530_*3531del
ENST00000642206.2:c.5028_5029del	ENSP00000495146.2:p.His1676GlnfsTer?
ENST00000642365.2:c.5178_5179del	ENSP00000495459.2:p.His1726GlnfsTer?
ENST00000644417.2:c.*5694_*5695del	ENSP00000493912.2:n.*5694_*5695del
ENST00000646464.2:c.*7930_*7931del	ENSP00000496610.2:n.*7930_*7931del
ENST00000219476.9:c.5181_5182del MANE Select	ENSP00000219476.3:p.His1727GlnfsTer?
ENST00000350773.9:c.5112_5113del	ENSP00000344383.4:p.His1704GlnfsTer?
ENST00000401874.7:c.4980_4981del	ENSP00000384468.2:p.His1660GlnfsTer?
ENST00000568454.6:c.5013_5014del	ENSP00000454487.1:p.His1671GlnfsTer?
ENST00000569110.2:c.1404_1405del
ENST00000569930.2:n.3063_3064del
ENST00000642365.1:c.3835_3836del
ENST00000642561.1:c.5040_5041del	ENSP00000495099.1:p.His1680GlnfsTer?
ENST00000642791.1:n.778_779del
ENST00000642797.1:c.4983_4984del	ENSP00000493846.1:p.His1661GlnfsTer?
ENST00000642936.1:c.5049_5050del	ENSP00000494514.1:p.His1683GlnfsTer?
ENST00000643088.1:c.4974_4975del	ENSP00000494747.1:p.His1658GlnfsTer?
ENST00000643426.1:n.2829_2830del
ENST00000643946.1:c.5106_5107del	ENSP00000495927.1:p.His1702GlnfsTer?
ENST00000644043.1:c.5052_5053del	ENSP00000496262.1:p.His1684GlnfsTer?
ENST00000644329.1:c.5067_5068del	ENSP00000496611.1:p.His1689GlnfsTer?
ENST00000644335.1:c.4977_4978del	ENSP00000496317.1:p.His1659GlnfsTer?
ENST00000644399.1:c.5102_5103del
ENST00000645024.1:n.3265_3266del
ENST00000646388.1:c.5175_5176del	ENSP00000495921.1:p.His1725GlnfsTer?
ENST00000646634.1:n.3996_3997del
ENST00000646674.1:n.2433_2434del
ENST00000647042.1:n.2404_2405del
ENST00000647180.1:n.2294_2295del
ENST00000219476.7:c.5181_5182del	ENSP00000219476.3:p.His1727GlnfsTer?
ENST00000350773.8:c.5112_5113del	ENSP00000344383.4:p.His1704GlnfsTer?
ENST00000382538.10:c.4836_4837del	ENSP00000371978.6:p.His1612GlnfsTer?
ENST00000401874.6:c.4980_4981del	ENSP00000384468.2:p.His1660GlnfsTer?
ENST00000439117.6:c.*4348_*4349del	ENSP00000406980.2:n.*4348_*4349del
ENST00000439673.6:c.4872_4873del	ENSP00000399232.2:p.His1624GlnfsTer?
ENST00000497886.5:n.2904_2905del
ENST00000568454.5:c.5013_5014del	ENSP00000454487.1:p.His1671GlnfsTer?
ENST00000569110.1:c.1363_1364del
ENST00000569930.1:n.2296_2297del
NM_000548.3:c.5181_5182del , LRG_487t1:c.5181_5182del	NP_000539.2:p.His1727GlnfsTer?
NM_001077183.1:c.4980_4981del	NP_001070651.1:p.His1660GlnfsTer?
NM_001114382.1:c.5112_5113del	NP_001107854.1:p.His1704GlnfsTer?
XM_005255529.3:c.5052_5053del	XP_005255586.2:p.His1684GlnfsTer?
XM_005255531.3:c.4983_4984del	XP_005255588.2:p.His1661GlnfsTer?
XM_011522636.1:c.5235_5236del	XP_011520938.1:p.His1745GlnfsTer?
XM_011522637.1:c.5232_5233del	XP_011520939.1:p.His1744GlnfsTer?
XM_011522638.1:c.5124_5125del	XP_011520940.1:p.His1708GlnfsTer?
XM_011522639.1:c.5106_5107del	XP_011520941.1:p.His1702GlnfsTer?
XM_011522640.1:c.5103_5104del	XP_011520942.1:p.His1701GlnfsTer?
XM_011522641.1:c.4872_4873del	XP_011520943.1:p.His1624GlnfsTer?
NM_000548.4:c.5181_5182del	NP_000539.2:p.His1727GlnfsTer?
NM_001077183.2:c.4980_4981del	NP_001070651.1:p.His1660GlnfsTer?
NM_001114382.2:c.5112_5113del	NP_001107854.1:p.His1704GlnfsTer?
NM_001318827.1:c.4872_4873del	NP_001305756.1:p.His1624GlnfsTer?
NM_001318829.1:c.4836_4837del	NP_001305758.1:p.His1612GlnfsTer?
NM_001318831.1:c.4449_4450del	NP_001305760.1:p.His1483GlnfsTer?
NM_001318832.1:c.5013_5014del	NP_001305761.1:p.His1671GlnfsTer?
NM_001363528.1:c.4983_4984del	NP_001350457.1:p.His1661GlnfsTer?
NM_021055.2:c.5052_5053del	NP_066399.2:p.His1684GlnfsTer?
XM_005255531.4:c.4983_4984del	XP_005255588.2:p.His1661GlnfsTer?
XM_011522636.2:c.5235_5236del	XP_011520938.1:p.His1745GlnfsTer?
XM_011522637.2:c.5232_5233del	XP_011520939.1:p.His1744GlnfsTer?
XM_011522638.2:c.5397_5398del	XP_011520940.2:p.His1799GlnfsTer?
XM_011522639.2:c.5106_5107del	XP_011520941.1:p.His1702GlnfsTer?
XM_011522640.2:c.5103_5104del	XP_011520942.1:p.His1701GlnfsTer?
XM_017023615.1:c.5178_5179del	XP_016879104.1:p.His1726GlnfsTer?
XM_017023616.1:c.5049_5050del	XP_016879105.1:p.His1683GlnfsTer?
XM_017023617.1:c.5145_5146del	XP_016879106.1:p.His1715GlnfsTer?
XM_017023618.1:c.3891_3892del	XP_016879107.1:p.His1297GlnfsTer?
XM_024450413.1:c.5067_5068del	XP_024306181.1:p.His1689GlnfsTer?
NM_000548.5:c.5181_5182del MANE Select	NP_000539.2:p.His1727GlnfsTer?
NM_001370404.1:c.5049_5050del	NP_001357333.1:p.His1683GlnfsTer?
NM_001370405.1:c.5040_5041del	NP_001357334.1:p.His1680GlnfsTer?
NM_001077183.3:c.4980_4981del	NP_001070651.1:p.His1660GlnfsTer?
NM_001114382.3:c.5112_5113del	NP_001107854.1:p.His1704GlnfsTer?
NM_001318827.2:c.4872_4873del	NP_001305756.1:p.His1624GlnfsTer?
NM_001318829.2:c.4836_4837del	NP_001305758.1:p.His1612GlnfsTer?
NM_001318831.2:c.4449_4450del	NP_001305760.1:p.His1483GlnfsTer?
NM_001318832.2:c.5013_5014del	NP_001305761.1:p.His1671GlnfsTer?
NM_001363528.2:c.4983_4984del	NP_001350457.1:p.His1661GlnfsTer?
NM_021055.3:c.5052_5053del	NP_066399.2:p.His1684GlnfsTer?