Canonical Allele Identifier: CA2202029005

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079353C= , CM000678.2:g.2079353C=	GRCh38
NC_000016.9:g.2129354C= , CM000678.1:g.2129354C=	GRCh37
NC_000016.8:g.2069355C=	NCBI36
NG_005895.1:g.35048C= , LRG_487:g.35048C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1627C=	ENSP00000455997.2:n.*1627C=
ENST00000642206.2:c.3125C=	ENSP00000495146.2:p.Thr1042=
ENST00000642365.2:c.3206C=	ENSP00000495459.2:p.Thr1069=
ENST00000644417.2:c.*3658C=	ENSP00000493912.2:n.*3658C=
ENST00000646464.2:c.*4131C=	ENSP00000496610.2:n.*4131C=
ENST00000219476.9:c.3209C= MANE Select	ENSP00000219476.3:p.Thr1070=
ENST00000350773.9:c.3209C=	ENSP00000344383.4:p.Thr1070=
ENST00000401874.7:c.3077C=	ENSP00000384468.2:p.Thr1026=
ENST00000471143.6:c.437C=	ENSP00000458541.2:n.437C=
ENST00000568454.6:c.3110C=	ENSP00000454487.1:p.Thr1037=
ENST00000642365.1:c.1863C=
ENST00000642561.1:c.3080C=	ENSP00000495099.1:p.Thr1027=
ENST00000642797.1:c.3080C=	ENSP00000493846.1:p.Thr1027=
ENST00000642936.1:c.3077C=	ENSP00000494514.1:p.Thr1026=
ENST00000643088.1:c.3077C=	ENSP00000494747.1:p.Thr1026=
ENST00000643946.1:c.3209C=	ENSP00000495927.1:p.Thr1070=
ENST00000644043.1:c.3080C=	ENSP00000496262.1:p.Thr1027=
ENST00000644329.1:c.3077C=	ENSP00000496611.1:p.Thr1026=
ENST00000644335.1:c.3080C=	ENSP00000496317.1:p.Thr1027=
ENST00000644399.1:c.3199C=
ENST00000644722.1:n.355C=
ENST00000645024.1:n.1362C=
ENST00000646388.1:c.3209C=	ENSP00000495921.1:p.Thr1070=
ENST00000646634.1:n.2093C=
ENST00000647042.1:n.501C=
ENST00000219476.7:c.3209C=	ENSP00000219476.3:p.Thr1070=
ENST00000350773.8:c.3209C=	ENSP00000344383.4:p.Thr1070=
ENST00000382538.10:c.2933C=	ENSP00000371978.6:p.Thr978=
ENST00000401874.6:c.3077C=	ENSP00000384468.2:p.Thr1026=
ENST00000439117.6:c.*2376C=	ENSP00000406980.2:n.*2376C=
ENST00000439673.6:c.2969C=	ENSP00000399232.2:p.Thr990=
ENST00000471143.5:c.435C=
ENST00000483020.5:c.449C=	ENSP00000460310.1:n.449C=
ENST00000497886.5:n.1036C=
ENST00000561695.1:n.434C=
ENST00000568366.5:n.566C=
ENST00000568454.5:c.3110C=	ENSP00000454487.1:p.Thr1037=
NM_000548.3:c.3209C= , LRG_487t1:c.3209C=	NP_000539.2:p.Thr1070=
NM_001077183.1:c.3077C=	NP_001070651.1:p.Thr1026=
NM_001114382.1:c.3209C=	NP_001107854.1:p.Thr1070=
XM_005255529.3:c.3080C=	XP_005255586.2:p.Thr1027=
XM_005255531.3:c.3080C=	XP_005255588.2:p.Thr1027=
XM_011522636.1:c.3209C=	XP_011520938.1:p.Thr1070=
XM_011522637.1:c.3206C=	XP_011520939.1:p.Thr1069=
XM_011522638.1:c.3098C=	XP_011520940.1:p.Thr1033=
XM_011522639.1:c.3080C=	XP_011520941.1:p.Thr1027=
XM_011522640.1:c.3077C=	XP_011520942.1:p.Thr1026=
XM_011522641.1:c.2969C=	XP_011520943.1:p.Thr990=
NM_000548.4:c.3209C=	NP_000539.2:p.Thr1070=
NM_001077183.2:c.3077C=	NP_001070651.1:p.Thr1026=
NM_001114382.2:c.3209C=	NP_001107854.1:p.Thr1070=
NM_001318827.1:c.2969C=	NP_001305756.1:p.Thr990=
NM_001318829.1:c.2933C=	NP_001305758.1:p.Thr978=
NM_001318831.1:c.2477C=	NP_001305760.1:p.Thr826=
NM_001318832.1:c.3110C=	NP_001305761.1:p.Thr1037=
NM_001363528.1:c.3080C=	NP_001350457.1:p.Thr1027=
NM_021055.2:c.3080C=	NP_066399.2:p.Thr1027=
XM_005255531.4:c.3080C=	XP_005255588.2:p.Thr1027=
XM_011522636.2:c.3209C=	XP_011520938.1:p.Thr1070=
XM_011522637.2:c.3206C=	XP_011520939.1:p.Thr1069=
XM_011522638.2:c.3371C=	XP_011520940.2:p.Thr1124=
XM_011522639.2:c.3080C=	XP_011520941.1:p.Thr1027=
XM_011522640.2:c.3077C=	XP_011520942.1:p.Thr1026=
XM_017023615.1:c.3206C=	XP_016879104.1:p.Thr1069=
XM_017023616.1:c.3077C=	XP_016879105.1:p.Thr1026=
XM_017023617.1:c.3242C=	XP_016879106.1:p.Thr1081=
XM_017023618.1:c.1865C=	XP_016879107.1:p.Thr622=
XM_024450413.1:c.3077C=	XP_024306181.1:p.Thr1026=
NM_000548.5:c.3209C= MANE Select	NP_000539.2:p.Thr1070=
NM_001370404.1:c.3077C=	NP_001357333.1:p.Thr1026=
NM_001370405.1:c.3080C=	NP_001357334.1:p.Thr1027=
NM_001077183.3:c.3077C=	NP_001070651.1:p.Thr1026=
NM_001114382.3:c.3209C=	NP_001107854.1:p.Thr1070=
NM_001318827.2:c.2969C=	NP_001305756.1:p.Thr990=
NM_001318829.2:c.2933C=	NP_001305758.1:p.Thr978=
NM_001318831.2:c.2477C=	NP_001305760.1:p.Thr826=
NM_001318832.2:c.3110C=	NP_001305761.1:p.Thr1037=
NM_001363528.2:c.3080C=	NP_001350457.1:p.Thr1027=
NM_021055.3:c.3080C=	NP_066399.2:p.Thr1027=