Canonical Allele Identifier: CA2202031580

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088233_2088235delinsTCA , CM000678.2:g.2088233_2088235delinsTCA	GRCh38
NC_000016.9:g.2138234_2138236delinsTCA , CM000678.1:g.2138234_2138236delinsTCA	GRCh37
NC_000016.8:g.2078235_2078237delinsTCA	NCBI36
NG_005895.1:g.43928_43930delinsTCA , LRG_487:g.43928_43930delinsTCA
NG_008617.1:g.54986_54988delinsTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3516_*3518delinsTCA	ENSP00000455997.2:n.*3516_*3518delinsTCA
ENST00000642206.2:c.5014_5016delinsTCA	ENSP00000495146.2:p.Ser1672=
ENST00000642365.2:c.5164_5166delinsTCA	ENSP00000495459.2:p.Ser1722=
ENST00000644417.2:c.*5680_*5682delinsTCA	ENSP00000493912.2:n.*5680_*5682delinsTCA
ENST00000646464.2:c.*7916_*7918delinsTCA	ENSP00000496610.2:n.*7916_*7918delinsTCA
ENST00000219476.9:c.5167_5169delinsTCA MANE Select	ENSP00000219476.3:p.Ser1723=
ENST00000350773.9:c.5098_5100delinsTCA	ENSP00000344383.4:p.Ser1700=
ENST00000401874.7:c.4966_4968delinsTCA	ENSP00000384468.2:p.Ser1656=
ENST00000568454.6:c.4999_5001delinsTCA	ENSP00000454487.1:p.Ser1667=
ENST00000569110.2:c.1390_1392delinsTCA
ENST00000569930.2:n.3049_3051delinsTCA
ENST00000642365.1:c.3821_3823delinsTCA
ENST00000642561.1:c.5032-6_5032-4delinsTCA	ENSP00000495099.1:n.5032-6_5032-4delinsTCA
ENST00000642791.1:n.764_766delinsTCA
ENST00000642797.1:c.4969_4971delinsTCA	ENSP00000493846.1:p.Ser1657=
ENST00000642936.1:c.5035_5037delinsTCA	ENSP00000494514.1:p.Ser1679=
ENST00000643088.1:c.4960_4962delinsTCA	ENSP00000494747.1:p.Ser1654=
ENST00000643426.1:n.2815_2817delinsTCA
ENST00000643946.1:c.5092_5094delinsTCA	ENSP00000495927.1:p.Ser1698=
ENST00000644043.1:c.5038_5040delinsTCA	ENSP00000496262.1:p.Ser1680=
ENST00000644329.1:c.5053_5055delinsTCA	ENSP00000496611.1:p.Ser1685=
ENST00000644335.1:c.4963_4965delinsTCA	ENSP00000496317.1:p.Ser1655=
ENST00000644399.1:c.5088_5090delinsTCA
ENST00000645024.1:n.3251_3253delinsTCA
ENST00000646388.1:c.5161_5163delinsTCA	ENSP00000495921.1:p.Ser1721=
ENST00000646634.1:n.3982_3984delinsTCA
ENST00000646674.1:n.2419_2421delinsTCA
ENST00000647042.1:n.2390_2392delinsTCA
ENST00000647180.1:n.2280_2282delinsTCA
ENST00000219476.7:c.5167_5169delinsTCA	ENSP00000219476.3:p.Ser1723=
ENST00000350773.8:c.5098_5100delinsTCA	ENSP00000344383.4:p.Ser1700=
ENST00000382538.10:c.4822_4824delinsTCA	ENSP00000371978.6:p.Ser1608=
ENST00000401874.6:c.4966_4968delinsTCA	ENSP00000384468.2:p.Ser1656=
ENST00000439117.6:c.*4334_*4336delinsTCA	ENSP00000406980.2:n.*4334_*4336delinsTCA
ENST00000439673.6:c.4858_4860delinsTCA	ENSP00000399232.2:p.Ser1620=
ENST00000497886.5:n.2890_2892delinsTCA
ENST00000568454.5:c.4999_5001delinsTCA	ENSP00000454487.1:p.Ser1667=
ENST00000569110.1:c.1349_1351delinsTCA
ENST00000569930.1:n.2282_2284delinsTCA
NM_000548.3:c.5167_5169delinsTCA , LRG_487t1:c.5167_5169delinsTCA	NP_000539.2:p.Ser1723=
NM_001077183.1:c.4966_4968delinsTCA	NP_001070651.1:p.Ser1656=
NM_001114382.1:c.5098_5100delinsTCA	NP_001107854.1:p.Ser1700=
XM_005255529.3:c.5038_5040delinsTCA	XP_005255586.2:p.Ser1680=
XM_005255531.3:c.4969_4971delinsTCA	XP_005255588.2:p.Ser1657=
XM_011522636.1:c.5221_5223delinsTCA	XP_011520938.1:p.Ser1741=
XM_011522637.1:c.5218_5220delinsTCA	XP_011520939.1:p.Ser1740=
XM_011522638.1:c.5110_5112delinsTCA	XP_011520940.1:p.Ser1704=
XM_011522639.1:c.5092_5094delinsTCA	XP_011520941.1:p.Ser1698=
XM_011522640.1:c.5089_5091delinsTCA	XP_011520942.1:p.Ser1697=
XM_011522641.1:c.4858_4860delinsTCA	XP_011520943.1:p.Ser1620=
NM_000548.4:c.5167_5169delinsTCA	NP_000539.2:p.Ser1723=
NM_001077183.2:c.4966_4968delinsTCA	NP_001070651.1:p.Ser1656=
NM_001114382.2:c.5098_5100delinsTCA	NP_001107854.1:p.Ser1700=
NM_001318827.1:c.4858_4860delinsTCA	NP_001305756.1:p.Ser1620=
NM_001318829.1:c.4822_4824delinsTCA	NP_001305758.1:p.Ser1608=
NM_001318831.1:c.4435_4437delinsTCA	NP_001305760.1:p.Ser1479=
NM_001318832.1:c.4999_5001delinsTCA	NP_001305761.1:p.Ser1667=
NM_001363528.1:c.4969_4971delinsTCA	NP_001350457.1:p.Ser1657=
NM_021055.2:c.5038_5040delinsTCA	NP_066399.2:p.Ser1680=
XM_005255531.4:c.4969_4971delinsTCA	XP_005255588.2:p.Ser1657=
XM_011522636.2:c.5221_5223delinsTCA	XP_011520938.1:p.Ser1741=
XM_011522637.2:c.5218_5220delinsTCA	XP_011520939.1:p.Ser1740=
XM_011522638.2:c.5383_5385delinsTCA	XP_011520940.2:p.Ser1795=
XM_011522639.2:c.5092_5094delinsTCA	XP_011520941.1:p.Ser1698=
XM_011522640.2:c.5089_5091delinsTCA	XP_011520942.1:p.Ser1697=
XM_017023615.1:c.5164_5166delinsTCA	XP_016879104.1:p.Ser1722=
XM_017023616.1:c.5035_5037delinsTCA	XP_016879105.1:p.Ser1679=
XM_017023617.1:c.5131_5133delinsTCA	XP_016879106.1:p.Ser1711=
XM_017023618.1:c.3877_3879delinsTCA	XP_016879107.1:p.Ser1293=
XM_024450413.1:c.5053_5055delinsTCA	XP_024306181.1:p.Ser1685=
NM_000548.5:c.5167_5169delinsTCA MANE Select	NP_000539.2:p.Ser1723=
NM_001370404.1:c.5035_5037delinsTCA	NP_001357333.1:p.Ser1679=
NM_001370405.1:c.5032-6_5032-4delinsTCA	NP_001357334.1:n.5032-6_5032-4delinsTCA
NM_001077183.3:c.4966_4968delinsTCA	NP_001070651.1:p.Ser1656=
NM_001114382.3:c.5098_5100delinsTCA	NP_001107854.1:p.Ser1700=
NM_001318827.2:c.4858_4860delinsTCA	NP_001305756.1:p.Ser1620=
NM_001318829.2:c.4822_4824delinsTCA	NP_001305758.1:p.Ser1608=
NM_001318831.2:c.4435_4437delinsTCA	NP_001305760.1:p.Ser1479=
NM_001318832.2:c.4999_5001delinsTCA	NP_001305761.1:p.Ser1667=
NM_001363528.2:c.4969_4971delinsTCA	NP_001350457.1:p.Ser1657=
NM_021055.3:c.5038_5040delinsTCA	NP_066399.2:p.Ser1680=