Canonical Allele Identifier: CA2575876615

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081780_2081781del , CM000678.2:g.2081780_2081781del	GRCh38
NC_000016.9:g.2131781_2131782del , CM000678.1:g.2131781_2131782del	GRCh37
NC_000016.8:g.2071782_2071783del	NCBI36
NG_005895.1:g.37475_37476del , LRG_487:g.37475_37476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2214_*2215del	ENSP00000455997.2:n.*2214_*2215del
ENST00000642206.2:c.3712_3713del	ENSP00000495146.2:p.Leu1238AlafsTer?
ENST00000642365.2:c.3793_3794del	ENSP00000495459.2:p.Leu1265AlafsTer?
ENST00000644417.2:c.*4245_*4246del	ENSP00000493912.2:n.*4245_*4246del
ENST00000646464.2:c.*4718_*4719del	ENSP00000496610.2:n.*4718_*4719del
ENST00000219476.9:c.3796_3797del MANE Select	ENSP00000219476.3:p.Leu1266AlafsTer?
ENST00000350773.9:c.3796_3797del	ENSP00000344383.4:p.Leu1266AlafsTer?
ENST00000401874.7:c.3664_3665del	ENSP00000384468.2:p.Leu1222AlafsTer?
ENST00000568454.6:c.3697_3698del	ENSP00000454487.1:p.Leu1233AlafsTer?
ENST00000642365.1:c.2450_2451del
ENST00000642561.1:c.3667_3668del	ENSP00000495099.1:p.Leu1223AlafsTer?
ENST00000642797.1:c.3667_3668del	ENSP00000493846.1:p.Leu1223AlafsTer?
ENST00000642936.1:c.3664_3665del	ENSP00000494514.1:p.Leu1222AlafsTer?
ENST00000643088.1:c.3664_3665del	ENSP00000494747.1:p.Leu1222AlafsTer?
ENST00000643426.1:n.1444_1445del
ENST00000643533.1:n.306_307del
ENST00000643946.1:c.3796_3797del	ENSP00000495927.1:p.Leu1266AlafsTer?
ENST00000644043.1:c.3667_3668del	ENSP00000496262.1:p.Leu1223AlafsTer?
ENST00000644329.1:c.3664_3665del	ENSP00000496611.1:p.Leu1222AlafsTer?
ENST00000644335.1:c.3667_3668del	ENSP00000496317.1:p.Leu1223AlafsTer?
ENST00000644399.1:c.3786_3787del
ENST00000644722.1:n.942_943del
ENST00000645024.1:n.1949_1950del
ENST00000646388.1:c.3796_3797del	ENSP00000495921.1:p.Leu1266AlafsTer?
ENST00000646634.1:n.2680_2681del
ENST00000646674.1:n.411_412del
ENST00000647042.1:n.1088_1089del
ENST00000647180.1:n.276_277del
ENST00000219476.7:c.3796_3797del	ENSP00000219476.3:p.Leu1266AlafsTer?
ENST00000350773.8:c.3796_3797del	ENSP00000344383.4:p.Leu1266AlafsTer?
ENST00000382538.10:c.3520_3521del	ENSP00000371978.6:p.Leu1174AlafsTer?
ENST00000401874.6:c.3664_3665del	ENSP00000384468.2:p.Leu1222AlafsTer?
ENST00000439117.6:c.*2963_*2964del	ENSP00000406980.2:n.*2963_*2964del
ENST00000439673.6:c.3556_3557del	ENSP00000399232.2:p.Leu1186AlafsTer?
ENST00000497886.5:n.1623_1624del
ENST00000568454.5:c.3697_3698del	ENSP00000454487.1:p.Leu1233AlafsTer?
NM_000548.3:c.3796_3797del , LRG_487t1:c.3796_3797del	NP_000539.2:p.Leu1266AlafsTer?
NM_001077183.1:c.3664_3665del	NP_001070651.1:p.Leu1222AlafsTer?
NM_001114382.1:c.3796_3797del	NP_001107854.1:p.Leu1266AlafsTer?
XM_005255529.3:c.3667_3668del	XP_005255586.2:p.Leu1223AlafsTer?
XM_005255531.3:c.3667_3668del	XP_005255588.2:p.Leu1223AlafsTer?
XM_011522636.1:c.3796_3797del	XP_011520938.1:p.Leu1266AlafsTer?
XM_011522637.1:c.3793_3794del	XP_011520939.1:p.Leu1265AlafsTer?
XM_011522638.1:c.3685_3686del	XP_011520940.1:p.Leu1229AlafsTer?
XM_011522639.1:c.3667_3668del	XP_011520941.1:p.Leu1223AlafsTer?
XM_011522640.1:c.3664_3665del	XP_011520942.1:p.Leu1222AlafsTer?
XM_011522641.1:c.3556_3557del	XP_011520943.1:p.Leu1186AlafsTer?
NM_000548.4:c.3796_3797del	NP_000539.2:p.Leu1266AlafsTer?
NM_001077183.2:c.3664_3665del	NP_001070651.1:p.Leu1222AlafsTer?
NM_001114382.2:c.3796_3797del	NP_001107854.1:p.Leu1266AlafsTer?
NM_001318827.1:c.3556_3557del	NP_001305756.1:p.Leu1186AlafsTer?
NM_001318829.1:c.3520_3521del	NP_001305758.1:p.Leu1174AlafsTer?
NM_001318831.1:c.3064_3065del	NP_001305760.1:p.Leu1022AlafsTer?
NM_001318832.1:c.3697_3698del	NP_001305761.1:p.Leu1233AlafsTer?
NM_001363528.1:c.3667_3668del	NP_001350457.1:p.Leu1223AlafsTer?
NM_021055.2:c.3667_3668del	NP_066399.2:p.Leu1223AlafsTer?
XM_005255531.4:c.3667_3668del	XP_005255588.2:p.Leu1223AlafsTer?
XM_011522636.2:c.3796_3797del	XP_011520938.1:p.Leu1266AlafsTer?
XM_011522637.2:c.3793_3794del	XP_011520939.1:p.Leu1265AlafsTer?
XM_011522638.2:c.3958_3959del	XP_011520940.2:p.Leu1320AlafsTer?
XM_011522639.2:c.3667_3668del	XP_011520941.1:p.Leu1223AlafsTer?
XM_011522640.2:c.3664_3665del	XP_011520942.1:p.Leu1222AlafsTer?
XM_017023615.1:c.3793_3794del	XP_016879104.1:p.Leu1265AlafsTer?
XM_017023616.1:c.3664_3665del	XP_016879105.1:p.Leu1222AlafsTer?
XM_017023617.1:c.3829_3830del	XP_016879106.1:p.Leu1277AlafsTer?
XM_017023618.1:c.2452_2453del	XP_016879107.1:p.Leu818AlafsTer?
XM_024450413.1:c.3664_3665del	XP_024306181.1:p.Leu1222AlafsTer?
NM_000548.5:c.3796_3797del MANE Select	NP_000539.2:p.Leu1266AlafsTer?
NM_001370404.1:c.3664_3665del	NP_001357333.1:p.Leu1222AlafsTer?
NM_001370405.1:c.3667_3668del	NP_001357334.1:p.Leu1223AlafsTer?
NM_001077183.3:c.3664_3665del	NP_001070651.1:p.Leu1222AlafsTer?
NM_001114382.3:c.3796_3797del	NP_001107854.1:p.Leu1266AlafsTer?
NM_001318827.2:c.3556_3557del	NP_001305756.1:p.Leu1186AlafsTer?
NM_001318829.2:c.3520_3521del	NP_001305758.1:p.Leu1174AlafsTer?
NM_001318831.2:c.3064_3065del	NP_001305760.1:p.Leu1022AlafsTer?
NM_001318832.2:c.3697_3698del	NP_001305761.1:p.Leu1233AlafsTer?
NM_001363528.2:c.3667_3668del	NP_001350457.1:p.Leu1223AlafsTer?
NM_021055.3:c.3667_3668del	NP_066399.2:p.Leu1223AlafsTer?