Canonical Allele Identifier: CA2202045123

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084639_2084641delinsAAG , CM000678.2:g.2084639_2084641delinsAAG	GRCh38
NC_000016.9:g.2134640_2134642delinsAAG , CM000678.1:g.2134640_2134642delinsAAG	GRCh37
NC_000016.8:g.2074641_2074643delinsAAG	NCBI36
NG_005895.1:g.40334_40336delinsAAG , LRG_487:g.40334_40336delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2766_*2768delinsAAG	ENSP00000455997.2:n.*2766_*2768delinsAAG
ENST00000642206.2:c.4264_4266delinsAAG	ENSP00000495146.2:p.Lys1422=
ENST00000642365.2:c.4414_4416delinsAAG	ENSP00000495459.2:p.Lys1472=
ENST00000644417.2:c.*4797_*4799delinsAAG	ENSP00000493912.2:n.*4797_*4799delinsAAG
ENST00000646464.2:c.*7166_*7168delinsAAG	ENSP00000496610.2:n.*7166_*7168delinsAAG
ENST00000219476.9:c.4417_4419delinsAAG MANE Select	ENSP00000219476.3:p.Lys1473=
ENST00000350773.9:c.4348_4350delinsAAG	ENSP00000344383.4:p.Lys1450=
ENST00000401874.7:c.4216_4218delinsAAG	ENSP00000384468.2:p.Lys1406=
ENST00000568454.6:c.4249_4251delinsAAG	ENSP00000454487.1:p.Lys1417=
ENST00000569110.2:c.653_655delinsAAG
ENST00000569930.2:n.2299_2301delinsAAG
ENST00000642365.1:c.3071_3073delinsAAG
ENST00000642561.1:c.4288_4290delinsAAG	ENSP00000495099.1:p.Lys1430=
ENST00000642728.1:n.599_601delinsAAG
ENST00000642797.1:c.4219_4221delinsAAG	ENSP00000493846.1:p.Lys1407=
ENST00000642936.1:c.4285_4287delinsAAG	ENSP00000494514.1:p.Lys1429=
ENST00000643088.1:c.4216_4218delinsAAG	ENSP00000494747.1:p.Lys1406=
ENST00000643177.1:n.431_433delinsAAG
ENST00000643426.1:n.2065_2067delinsAAG
ENST00000643946.1:c.4348_4350delinsAAG	ENSP00000495927.1:p.Lys1450=
ENST00000644043.1:c.4288_4290delinsAAG	ENSP00000496262.1:p.Lys1430=
ENST00000644329.1:c.4216_4218delinsAAG	ENSP00000496611.1:p.Lys1406=
ENST00000644335.1:c.4219_4221delinsAAG	ENSP00000496317.1:p.Lys1407=
ENST00000644399.1:c.4338_4340delinsAAG
ENST00000645024.1:n.2501_2503delinsAAG
ENST00000646388.1:c.4417_4419delinsAAG	ENSP00000495921.1:p.Lys1473=
ENST00000646634.1:n.3232_3234delinsAAG
ENST00000646674.1:n.1669_1671delinsAAG
ENST00000647042.1:n.1640_1642delinsAAG
ENST00000647180.1:n.1530_1532delinsAAG
ENST00000219476.7:c.4417_4419delinsAAG	ENSP00000219476.3:p.Lys1473=
ENST00000350773.8:c.4348_4350delinsAAG	ENSP00000344383.4:p.Lys1450=
ENST00000382538.10:c.4072_4074delinsAAG	ENSP00000371978.6:p.Lys1358=
ENST00000401874.6:c.4216_4218delinsAAG	ENSP00000384468.2:p.Lys1406=
ENST00000439117.6:c.*3584_*3586delinsAAG	ENSP00000406980.2:n.*3584_*3586delinsAAG
ENST00000439673.6:c.4108_4110delinsAAG	ENSP00000399232.2:p.Lys1370=
ENST00000497886.5:n.2175_2177delinsAAG
ENST00000568454.5:c.4249_4251delinsAAG	ENSP00000454487.1:p.Lys1417=
ENST00000569110.1:c.599_601delinsAAG
ENST00000569930.1:n.1532_1534delinsAAG
NM_000548.3:c.4417_4419delinsAAG , LRG_487t1:c.4417_4419delinsAAG	NP_000539.2:p.Lys1473=
NM_001077183.1:c.4216_4218delinsAAG	NP_001070651.1:p.Lys1406=
NM_001114382.1:c.4348_4350delinsAAG	NP_001107854.1:p.Lys1450=
XM_005255529.3:c.4288_4290delinsAAG	XP_005255586.2:p.Lys1430=
XM_005255531.3:c.4219_4221delinsAAG	XP_005255588.2:p.Lys1407=
XM_011522636.1:c.4471_4473delinsAAG	XP_011520938.1:p.Lys1491=
XM_011522637.1:c.4468_4470delinsAAG	XP_011520939.1:p.Lys1490=
XM_011522638.1:c.4360_4362delinsAAG	XP_011520940.1:p.Lys1454=
XM_011522639.1:c.4342_4344delinsAAG	XP_011520941.1:p.Lys1448=
XM_011522640.1:c.4339_4341delinsAAG	XP_011520942.1:p.Lys1447=
XM_011522641.1:c.4108_4110delinsAAG	XP_011520943.1:p.Lys1370=
NM_000548.4:c.4417_4419delinsAAG	NP_000539.2:p.Lys1473=
NM_001077183.2:c.4216_4218delinsAAG	NP_001070651.1:p.Lys1406=
NM_001114382.2:c.4348_4350delinsAAG	NP_001107854.1:p.Lys1450=
NM_001318827.1:c.4108_4110delinsAAG	NP_001305756.1:p.Lys1370=
NM_001318829.1:c.4072_4074delinsAAG	NP_001305758.1:p.Lys1358=
NM_001318831.1:c.3685_3687delinsAAG	NP_001305760.1:p.Lys1229=
NM_001318832.1:c.4249_4251delinsAAG	NP_001305761.1:p.Lys1417=
NM_001363528.1:c.4219_4221delinsAAG	NP_001350457.1:p.Lys1407=
NM_021055.2:c.4288_4290delinsAAG	NP_066399.2:p.Lys1430=
XM_005255531.4:c.4219_4221delinsAAG	XP_005255588.2:p.Lys1407=
XM_011522636.2:c.4471_4473delinsAAG	XP_011520938.1:p.Lys1491=
XM_011522637.2:c.4468_4470delinsAAG	XP_011520939.1:p.Lys1490=
XM_011522638.2:c.4633_4635delinsAAG	XP_011520940.2:p.Lys1545=
XM_011522639.2:c.4342_4344delinsAAG	XP_011520941.1:p.Lys1448=
XM_011522640.2:c.4339_4341delinsAAG	XP_011520942.1:p.Lys1447=
XM_017023615.1:c.4414_4416delinsAAG	XP_016879104.1:p.Lys1472=
XM_017023616.1:c.4285_4287delinsAAG	XP_016879105.1:p.Lys1429=
XM_017023617.1:c.4381_4383delinsAAG	XP_016879106.1:p.Lys1461=
XM_017023618.1:c.3127_3129delinsAAG	XP_016879107.1:p.Lys1043=
XM_024450413.1:c.4216_4218delinsAAG	XP_024306181.1:p.Lys1406=
NM_000548.5:c.4417_4419delinsAAG MANE Select	NP_000539.2:p.Lys1473=
NM_001370404.1:c.4285_4287delinsAAG	NP_001357333.1:p.Lys1429=
NM_001370405.1:c.4288_4290delinsAAG	NP_001357334.1:p.Lys1430=
NM_001077183.3:c.4216_4218delinsAAG	NP_001070651.1:p.Lys1406=
NM_001114382.3:c.4348_4350delinsAAG	NP_001107854.1:p.Lys1450=
NM_001318827.2:c.4108_4110delinsAAG	NP_001305756.1:p.Lys1370=
NM_001318829.2:c.4072_4074delinsAAG	NP_001305758.1:p.Lys1358=
NM_001318831.2:c.3685_3687delinsAAG	NP_001305760.1:p.Lys1229=
NM_001318832.2:c.4249_4251delinsAAG	NP_001305761.1:p.Lys1417=
NM_001363528.2:c.4219_4221delinsAAG	NP_001350457.1:p.Lys1407=
NM_021055.3:c.4288_4290delinsAAG	NP_066399.2:p.Lys1430=