Canonical Allele Identifier: CA2202019395

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085280_2085281delinsCG , CM000678.2:g.2085280_2085281delinsCG	GRCh38
NC_000016.9:g.2135281_2135282delinsCG , CM000678.1:g.2135281_2135282delinsCG	GRCh37
NC_000016.8:g.2075282_2075283delinsCG	NCBI36
NG_005895.1:g.40975_40976delinsCG , LRG_487:g.40975_40976delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2969_*2970delinsCG	ENSP00000455997.2:n.*2969_*2970delinsCG
ENST00000642206.2:c.4467_4468delinsCG	ENSP00000495146.2:p.Tyr1489=
ENST00000642365.2:c.4617_4618delinsCG	ENSP00000495459.2:p.Tyr1539=
ENST00000644417.2:c.*5000_*5001delinsCG	ENSP00000493912.2:n.*5000_*5001delinsCG
ENST00000646464.2:c.*7369_*7370delinsCG	ENSP00000496610.2:n.*7369_*7370delinsCG
ENST00000219476.9:c.4620_4621delinsCG MANE Select	ENSP00000219476.3:p.Tyr1540=
ENST00000350773.9:c.4551_4552delinsCG	ENSP00000344383.4:p.Tyr1517=
ENST00000401874.7:c.4419_4420delinsCG	ENSP00000384468.2:p.Tyr1473=
ENST00000568454.6:c.4452_4453delinsCG	ENSP00000454487.1:p.Tyr1484=
ENST00000569110.2:c.843_844delinsCG
ENST00000569930.2:n.2502_2503delinsCG
ENST00000642365.1:c.3274_3275delinsCG
ENST00000642561.1:c.4491_4492delinsCG	ENSP00000495099.1:p.Tyr1497=
ENST00000642728.1:n.802_803delinsCG
ENST00000642791.1:n.217_218delinsCG
ENST00000642797.1:c.4422_4423delinsCG	ENSP00000493846.1:p.Tyr1474=
ENST00000642936.1:c.4488_4489delinsCG	ENSP00000494514.1:p.Tyr1496=
ENST00000643088.1:c.4413_4414delinsCG	ENSP00000494747.1:p.Tyr1471=
ENST00000643177.1:n.634_635delinsCG
ENST00000643426.1:n.2268_2269delinsCG
ENST00000643946.1:c.4545_4546delinsCG	ENSP00000495927.1:p.Tyr1515=
ENST00000644043.1:c.4491_4492delinsCG	ENSP00000496262.1:p.Tyr1497=
ENST00000644278.1:n.102_103delinsCG
ENST00000644329.1:c.4419_4420delinsCG	ENSP00000496611.1:p.Tyr1473=
ENST00000644335.1:c.4416_4417delinsCG	ENSP00000496317.1:p.Tyr1472=
ENST00000644399.1:c.4541_4542delinsCG
ENST00000645024.1:n.2704_2705delinsCG
ENST00000646388.1:c.4614_4615delinsCG	ENSP00000495921.1:p.Tyr1538=
ENST00000646634.1:n.3435_3436delinsCG
ENST00000646674.1:n.1872_1873delinsCG
ENST00000647042.1:n.1843_1844delinsCG
ENST00000647180.1:n.1733_1734delinsCG
ENST00000219476.7:c.4620_4621delinsCG	ENSP00000219476.3:p.Tyr1540=
ENST00000350773.8:c.4551_4552delinsCG	ENSP00000344383.4:p.Tyr1517=
ENST00000382538.10:c.4275_4276delinsCG	ENSP00000371978.6:p.Tyr1425=
ENST00000401874.6:c.4419_4420delinsCG	ENSP00000384468.2:p.Tyr1473=
ENST00000439117.6:c.*3787_*3788delinsCG	ENSP00000406980.2:n.*3787_*3788delinsCG
ENST00000439673.6:c.4311_4312delinsCG	ENSP00000399232.2:p.Tyr1437=
ENST00000497886.5:n.2378_2379delinsCG
ENST00000568454.5:c.4452_4453delinsCG	ENSP00000454487.1:p.Tyr1484=
ENST00000569110.1:c.802_803delinsCG
ENST00000569930.1:n.1735_1736delinsCG
NM_000548.3:c.4620_4621delinsCG , LRG_487t1:c.4620_4621delinsCG	NP_000539.2:p.Tyr1540=
NM_001077183.1:c.4419_4420delinsCG	NP_001070651.1:p.Tyr1473=
NM_001114382.1:c.4551_4552delinsCG	NP_001107854.1:p.Tyr1517=
XM_005255529.3:c.4491_4492delinsCG	XP_005255586.2:p.Tyr1497=
XM_005255531.3:c.4422_4423delinsCG	XP_005255588.2:p.Tyr1474=
XM_011522636.1:c.4674_4675delinsCG	XP_011520938.1:p.Tyr1558=
XM_011522637.1:c.4671_4672delinsCG	XP_011520939.1:p.Tyr1557=
XM_011522638.1:c.4563_4564delinsCG	XP_011520940.1:p.Tyr1521=
XM_011522639.1:c.4545_4546delinsCG	XP_011520941.1:p.Tyr1515=
XM_011522640.1:c.4542_4543delinsCG	XP_011520942.1:p.Tyr1514=
XM_011522641.1:c.4311_4312delinsCG	XP_011520943.1:p.Tyr1437=
NM_000548.4:c.4620_4621delinsCG	NP_000539.2:p.Tyr1540=
NM_001077183.2:c.4419_4420delinsCG	NP_001070651.1:p.Tyr1473=
NM_001114382.2:c.4551_4552delinsCG	NP_001107854.1:p.Tyr1517=
NM_001318827.1:c.4311_4312delinsCG	NP_001305756.1:p.Tyr1437=
NM_001318829.1:c.4275_4276delinsCG	NP_001305758.1:p.Tyr1425=
NM_001318831.1:c.3888_3889delinsCG	NP_001305760.1:p.Tyr1296=
NM_001318832.1:c.4452_4453delinsCG	NP_001305761.1:p.Tyr1484=
NM_001363528.1:c.4422_4423delinsCG	NP_001350457.1:p.Tyr1474=
NM_021055.2:c.4491_4492delinsCG	NP_066399.2:p.Tyr1497=
XM_005255531.4:c.4422_4423delinsCG	XP_005255588.2:p.Tyr1474=
XM_011522636.2:c.4674_4675delinsCG	XP_011520938.1:p.Tyr1558=
XM_011522637.2:c.4671_4672delinsCG	XP_011520939.1:p.Tyr1557=
XM_011522638.2:c.4836_4837delinsCG	XP_011520940.2:p.Tyr1612=
XM_011522639.2:c.4545_4546delinsCG	XP_011520941.1:p.Tyr1515=
XM_011522640.2:c.4542_4543delinsCG	XP_011520942.1:p.Tyr1514=
XM_017023615.1:c.4617_4618delinsCG	XP_016879104.1:p.Tyr1539=
XM_017023616.1:c.4488_4489delinsCG	XP_016879105.1:p.Tyr1496=
XM_017023617.1:c.4584_4585delinsCG	XP_016879106.1:p.Tyr1528=
XM_017023618.1:c.3330_3331delinsCG	XP_016879107.1:p.Tyr1110=
XM_024450413.1:c.4419_4420delinsCG	XP_024306181.1:p.Tyr1473=
NM_000548.5:c.4620_4621delinsCG MANE Select	NP_000539.2:p.Tyr1540=
NM_001370404.1:c.4488_4489delinsCG	NP_001357333.1:p.Tyr1496=
NM_001370405.1:c.4491_4492delinsCG	NP_001357334.1:p.Tyr1497=
NM_001077183.3:c.4419_4420delinsCG	NP_001070651.1:p.Tyr1473=
NM_001114382.3:c.4551_4552delinsCG	NP_001107854.1:p.Tyr1517=
NM_001318827.2:c.4311_4312delinsCG	NP_001305756.1:p.Tyr1437=
NM_001318829.2:c.4275_4276delinsCG	NP_001305758.1:p.Tyr1425=
NM_001318831.2:c.3888_3889delinsCG	NP_001305760.1:p.Tyr1296=
NM_001318832.2:c.4452_4453delinsCG	NP_001305761.1:p.Tyr1484=
NM_001363528.2:c.4422_4423delinsCG	NP_001350457.1:p.Tyr1474=
NM_021055.3:c.4491_4492delinsCG	NP_066399.2:p.Tyr1497=