Canonical Allele Identifier: CA2202031942

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088266_2088268delinsGAT , CM000678.2:g.2088266_2088268delinsGAT	GRCh38
NC_000016.9:g.2138267_2138269delinsGAT , CM000678.1:g.2138267_2138269delinsGAT	GRCh37
NC_000016.8:g.2078268_2078270delinsGAT	NCBI36
NG_005895.1:g.43961_43963delinsGAT , LRG_487:g.43961_43963delinsGAT
NG_008617.1:g.54953_54955delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3549_*3551delinsGAT	ENSP00000455997.2:n.*3549_*3551delinsGAT
ENST00000642206.2:c.5047_5049delinsGAT	ENSP00000495146.2:p.Asp1683=
ENST00000642365.2:c.5197_5199delinsGAT	ENSP00000495459.2:p.Asp1733=
ENST00000644417.2:c.*5713_*5715delinsGAT	ENSP00000493912.2:n.*5713_*5715delinsGAT
ENST00000646464.2:c.*7949_*7951delinsGAT	ENSP00000496610.2:n.*7949_*7951delinsGAT
ENST00000219476.9:c.5200_5202delinsGAT MANE Select	ENSP00000219476.3:p.Asp1734=
ENST00000350773.9:c.5131_5133delinsGAT	ENSP00000344383.4:p.Asp1711=
ENST00000401874.7:c.4999_5001delinsGAT	ENSP00000384468.2:p.Asp1667=
ENST00000568454.6:c.5032_5034delinsGAT	ENSP00000454487.1:p.Asp1678=
ENST00000569110.2:c.1423_1425delinsGAT
ENST00000569930.2:n.3082_3084delinsGAT
ENST00000642365.1:c.3854_3856delinsGAT
ENST00000642561.1:c.5059_5061delinsGAT	ENSP00000495099.1:p.Asp1687=
ENST00000642791.1:n.797_799delinsGAT
ENST00000642797.1:c.5002_5004delinsGAT	ENSP00000493846.1:p.Asp1668=
ENST00000642936.1:c.5068_5070delinsGAT	ENSP00000494514.1:p.Asp1690=
ENST00000643088.1:c.4993_4995delinsGAT	ENSP00000494747.1:p.Asp1665=
ENST00000643426.1:n.2848_2850delinsGAT
ENST00000643946.1:c.5125_5127delinsGAT	ENSP00000495927.1:p.Asp1709=
ENST00000644043.1:c.5071_5073delinsGAT	ENSP00000496262.1:p.Asp1691=
ENST00000644329.1:c.5086_5088delinsGAT	ENSP00000496611.1:p.Asp1696=
ENST00000644335.1:c.4996_4998delinsGAT	ENSP00000496317.1:p.Asp1666=
ENST00000644399.1:c.5121_5123delinsGAT
ENST00000645024.1:n.3284_3286delinsGAT
ENST00000646388.1:c.5194_5196delinsGAT	ENSP00000495921.1:p.Asp1732=
ENST00000646634.1:n.4015_4017delinsGAT
ENST00000646674.1:n.2452_2454delinsGAT
ENST00000647042.1:n.2423_2425delinsGAT
ENST00000647180.1:n.2313_2315delinsGAT
ENST00000219476.7:c.5200_5202delinsGAT	ENSP00000219476.3:p.Asp1734=
ENST00000350773.8:c.5131_5133delinsGAT	ENSP00000344383.4:p.Asp1711=
ENST00000382538.10:c.4855_4857delinsGAT	ENSP00000371978.6:p.Asp1619=
ENST00000401874.6:c.4999_5001delinsGAT	ENSP00000384468.2:p.Asp1667=
ENST00000439117.6:c.*4367_*4369delinsGAT	ENSP00000406980.2:n.*4367_*4369delinsGAT
ENST00000439673.6:c.4891_4893delinsGAT	ENSP00000399232.2:p.Asp1631=
ENST00000497886.5:n.2923_2925delinsGAT
ENST00000568454.5:c.5032_5034delinsGAT	ENSP00000454487.1:p.Asp1678=
ENST00000569110.1:c.1382_1384delinsGAT
ENST00000569930.1:n.2315_2317delinsGAT
NM_000548.3:c.5200_5202delinsGAT , LRG_487t1:c.5200_5202delinsGAT	NP_000539.2:p.Asp1734=
NM_001077183.1:c.4999_5001delinsGAT	NP_001070651.1:p.Asp1667=
NM_001114382.1:c.5131_5133delinsGAT	NP_001107854.1:p.Asp1711=
XM_005255529.3:c.5071_5073delinsGAT	XP_005255586.2:p.Asp1691=
XM_005255531.3:c.5002_5004delinsGAT	XP_005255588.2:p.Asp1668=
XM_011522636.1:c.5254_5256delinsGAT	XP_011520938.1:p.Asp1752=
XM_011522637.1:c.5251_5253delinsGAT	XP_011520939.1:p.Asp1751=
XM_011522638.1:c.5143_5145delinsGAT	XP_011520940.1:p.Asp1715=
XM_011522639.1:c.5125_5127delinsGAT	XP_011520941.1:p.Asp1709=
XM_011522640.1:c.5122_5124delinsGAT	XP_011520942.1:p.Asp1708=
XM_011522641.1:c.4891_4893delinsGAT	XP_011520943.1:p.Asp1631=
NM_000548.4:c.5200_5202delinsGAT	NP_000539.2:p.Asp1734=
NM_001077183.2:c.4999_5001delinsGAT	NP_001070651.1:p.Asp1667=
NM_001114382.2:c.5131_5133delinsGAT	NP_001107854.1:p.Asp1711=
NM_001318827.1:c.4891_4893delinsGAT	NP_001305756.1:p.Asp1631=
NM_001318829.1:c.4855_4857delinsGAT	NP_001305758.1:p.Asp1619=
NM_001318831.1:c.4468_4470delinsGAT	NP_001305760.1:p.Asp1490=
NM_001318832.1:c.5032_5034delinsGAT	NP_001305761.1:p.Asp1678=
NM_001363528.1:c.5002_5004delinsGAT	NP_001350457.1:p.Asp1668=
NM_021055.2:c.5071_5073delinsGAT	NP_066399.2:p.Asp1691=
XM_005255531.4:c.5002_5004delinsGAT	XP_005255588.2:p.Asp1668=
XM_011522636.2:c.5254_5256delinsGAT	XP_011520938.1:p.Asp1752=
XM_011522637.2:c.5251_5253delinsGAT	XP_011520939.1:p.Asp1751=
XM_011522638.2:c.5416_5418delinsGAT	XP_011520940.2:p.Asp1806=
XM_011522639.2:c.5125_5127delinsGAT	XP_011520941.1:p.Asp1709=
XM_011522640.2:c.5122_5124delinsGAT	XP_011520942.1:p.Asp1708=
XM_017023615.1:c.5197_5199delinsGAT	XP_016879104.1:p.Asp1733=
XM_017023616.1:c.5068_5070delinsGAT	XP_016879105.1:p.Asp1690=
XM_017023617.1:c.5164_5166delinsGAT	XP_016879106.1:p.Asp1722=
XM_017023618.1:c.3910_3912delinsGAT	XP_016879107.1:p.Asp1304=
XM_024450413.1:c.5086_5088delinsGAT	XP_024306181.1:p.Asp1696=
NM_000548.5:c.5200_5202delinsGAT MANE Select	NP_000539.2:p.Asp1734=
NM_001370404.1:c.5068_5070delinsGAT	NP_001357333.1:p.Asp1690=
NM_001370405.1:c.5059_5061delinsGAT	NP_001357334.1:p.Asp1687=
NM_001077183.3:c.4999_5001delinsGAT	NP_001070651.1:p.Asp1667=
NM_001114382.3:c.5131_5133delinsGAT	NP_001107854.1:p.Asp1711=
NM_001318827.2:c.4891_4893delinsGAT	NP_001305756.1:p.Asp1631=
NM_001318829.2:c.4855_4857delinsGAT	NP_001305758.1:p.Asp1619=
NM_001318831.2:c.4468_4470delinsGAT	NP_001305760.1:p.Asp1490=
NM_001318832.2:c.5032_5034delinsGAT	NP_001305761.1:p.Asp1678=
NM_001363528.2:c.5002_5004delinsGAT	NP_001350457.1:p.Asp1668=
NM_021055.3:c.5071_5073delinsGAT	NP_066399.2:p.Asp1691=