Canonical Allele Identifier: CA2202019695

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085312_2085315delinsGAGA , CM000678.2:g.2085312_2085315delinsGAGA	GRCh38
NC_000016.9:g.2135313_2135316delinsGAGA , CM000678.1:g.2135313_2135316delinsGAGA	GRCh37
NC_000016.8:g.2075314_2075317delinsGAGA	NCBI36
NG_005895.1:g.41007_41010delinsGAGA , LRG_487:g.41007_41010delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3001_*3004delinsGAGA	ENSP00000455997.2:n.*3001_*3004delinsGAGA
ENST00000642206.2:c.4499_4502delinsGAGA	ENSP00000495146.2:p.Gly1500=
ENST00000642365.2:c.4649_4652delinsGAGA	ENSP00000495459.2:p.Gly1550=
ENST00000644417.2:c.*5032_*5035delinsGAGA	ENSP00000493912.2:n.*5032_*5035delinsGAGA
ENST00000646464.2:c.*7401_*7404delinsGAGA	ENSP00000496610.2:n.*7401_*7404delinsGAGA
ENST00000219476.9:c.4652_4655delinsGAGA MANE Select	ENSP00000219476.3:p.Gly1551=
ENST00000350773.9:c.4583_4586delinsGAGA	ENSP00000344383.4:p.Gly1528=
ENST00000401874.7:c.4451_4454delinsGAGA	ENSP00000384468.2:p.Gly1484=
ENST00000568454.6:c.4484_4487delinsGAGA	ENSP00000454487.1:p.Gly1495=
ENST00000569110.2:c.875_878delinsGAGA
ENST00000569930.2:n.2534_2537delinsGAGA
ENST00000642365.1:c.3306_3309delinsGAGA
ENST00000642561.1:c.4523_4526delinsGAGA	ENSP00000495099.1:p.Gly1508=
ENST00000642728.1:n.834_837delinsGAGA
ENST00000642791.1:n.249_252delinsGAGA
ENST00000642797.1:c.4454_4457delinsGAGA	ENSP00000493846.1:p.Gly1485=
ENST00000642936.1:c.4520_4523delinsGAGA	ENSP00000494514.1:p.Gly1507=
ENST00000643088.1:c.4445_4448delinsGAGA	ENSP00000494747.1:p.Gly1482=
ENST00000643177.1:n.666_669delinsGAGA
ENST00000643426.1:n.2300_2303delinsGAGA
ENST00000643946.1:c.4577_4580delinsGAGA	ENSP00000495927.1:p.Gly1526=
ENST00000644043.1:c.4523_4526delinsGAGA	ENSP00000496262.1:p.Gly1508=
ENST00000644278.1:n.134_137delinsGAGA
ENST00000644329.1:c.4451_4454delinsGAGA	ENSP00000496611.1:p.Gly1484=
ENST00000644335.1:c.4448_4451delinsGAGA	ENSP00000496317.1:p.Gly1483=
ENST00000644399.1:c.4573_4576delinsGAGA
ENST00000645024.1:n.2736_2739delinsGAGA
ENST00000646388.1:c.4646_4649delinsGAGA	ENSP00000495921.1:p.Gly1549=
ENST00000646634.1:n.3467_3470delinsGAGA
ENST00000646674.1:n.1904_1907delinsGAGA
ENST00000647042.1:n.1875_1878delinsGAGA
ENST00000647180.1:n.1765_1768delinsGAGA
ENST00000219476.7:c.4652_4655delinsGAGA	ENSP00000219476.3:p.Gly1551=
ENST00000350773.8:c.4583_4586delinsGAGA	ENSP00000344383.4:p.Gly1528=
ENST00000382538.10:c.4307_4310delinsGAGA	ENSP00000371978.6:p.Gly1436=
ENST00000401874.6:c.4451_4454delinsGAGA	ENSP00000384468.2:p.Gly1484=
ENST00000439117.6:c.*3819_*3822delinsGAGA	ENSP00000406980.2:n.*3819_*3822delinsGAGA
ENST00000439673.6:c.4343_4346delinsGAGA	ENSP00000399232.2:p.Gly1448=
ENST00000497886.5:n.2410_2413delinsGAGA
ENST00000568454.5:c.4484_4487delinsGAGA	ENSP00000454487.1:p.Gly1495=
ENST00000569110.1:c.834_837delinsGAGA
ENST00000569930.1:n.1767_1770delinsGAGA
NM_000548.3:c.4652_4655delinsGAGA , LRG_487t1:c.4652_4655delinsGAGA	NP_000539.2:p.Gly1551=
NM_001077183.1:c.4451_4454delinsGAGA	NP_001070651.1:p.Gly1484=
NM_001114382.1:c.4583_4586delinsGAGA	NP_001107854.1:p.Gly1528=
XM_005255529.3:c.4523_4526delinsGAGA	XP_005255586.2:p.Gly1508=
XM_005255531.3:c.4454_4457delinsGAGA	XP_005255588.2:p.Gly1485=
XM_011522636.1:c.4706_4709delinsGAGA	XP_011520938.1:p.Gly1569=
XM_011522637.1:c.4703_4706delinsGAGA	XP_011520939.1:p.Gly1568=
XM_011522638.1:c.4595_4598delinsGAGA	XP_011520940.1:p.Gly1532=
XM_011522639.1:c.4577_4580delinsGAGA	XP_011520941.1:p.Gly1526=
XM_011522640.1:c.4574_4577delinsGAGA	XP_011520942.1:p.Gly1525=
XM_011522641.1:c.4343_4346delinsGAGA	XP_011520943.1:p.Gly1448=
NM_000548.4:c.4652_4655delinsGAGA	NP_000539.2:p.Gly1551=
NM_001077183.2:c.4451_4454delinsGAGA	NP_001070651.1:p.Gly1484=
NM_001114382.2:c.4583_4586delinsGAGA	NP_001107854.1:p.Gly1528=
NM_001318827.1:c.4343_4346delinsGAGA	NP_001305756.1:p.Gly1448=
NM_001318829.1:c.4307_4310delinsGAGA	NP_001305758.1:p.Gly1436=
NM_001318831.1:c.3920_3923delinsGAGA	NP_001305760.1:p.Gly1307=
NM_001318832.1:c.4484_4487delinsGAGA	NP_001305761.1:p.Gly1495=
NM_001363528.1:c.4454_4457delinsGAGA	NP_001350457.1:p.Gly1485=
NM_021055.2:c.4523_4526delinsGAGA	NP_066399.2:p.Gly1508=
XM_005255531.4:c.4454_4457delinsGAGA	XP_005255588.2:p.Gly1485=
XM_011522636.2:c.4706_4709delinsGAGA	XP_011520938.1:p.Gly1569=
XM_011522637.2:c.4703_4706delinsGAGA	XP_011520939.1:p.Gly1568=
XM_011522638.2:c.4868_4871delinsGAGA	XP_011520940.2:p.Gly1623=
XM_011522639.2:c.4577_4580delinsGAGA	XP_011520941.1:p.Gly1526=
XM_011522640.2:c.4574_4577delinsGAGA	XP_011520942.1:p.Gly1525=
XM_017023615.1:c.4649_4652delinsGAGA	XP_016879104.1:p.Gly1550=
XM_017023616.1:c.4520_4523delinsGAGA	XP_016879105.1:p.Gly1507=
XM_017023617.1:c.4616_4619delinsGAGA	XP_016879106.1:p.Gly1539=
XM_017023618.1:c.3362_3365delinsGAGA	XP_016879107.1:p.Gly1121=
XM_024450413.1:c.4451_4454delinsGAGA	XP_024306181.1:p.Gly1484=
NM_000548.5:c.4652_4655delinsGAGA MANE Select	NP_000539.2:p.Gly1551=
NM_001370404.1:c.4520_4523delinsGAGA	NP_001357333.1:p.Gly1507=
NM_001370405.1:c.4523_4526delinsGAGA	NP_001357334.1:p.Gly1508=
NM_001077183.3:c.4451_4454delinsGAGA	NP_001070651.1:p.Gly1484=
NM_001114382.3:c.4583_4586delinsGAGA	NP_001107854.1:p.Gly1528=
NM_001318827.2:c.4343_4346delinsGAGA	NP_001305756.1:p.Gly1448=
NM_001318829.2:c.4307_4310delinsGAGA	NP_001305758.1:p.Gly1436=
NM_001318831.2:c.3920_3923delinsGAGA	NP_001305760.1:p.Gly1307=
NM_001318832.2:c.4484_4487delinsGAGA	NP_001305761.1:p.Gly1495=
NM_001363528.2:c.4454_4457delinsGAGA	NP_001350457.1:p.Gly1485=
NM_021055.3:c.4523_4526delinsGAGA	NP_066399.2:p.Gly1508=