Canonical Allele Identifier: CA493042847

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2129311A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079310A>C , CM000678.2:g.2079310A>C	GRCh38
NC_000016.9:g.2129311A>C , CM000678.1:g.2129311A>C	GRCh37
NC_000016.8:g.2069312A>C	NCBI36
NG_005895.1:g.35005A>C , LRG_487:g.35005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1584A>C	ENSP00000455997.2:n.*1584A>C
ENST00000642206.2:c.3082A>C	ENSP00000495146.2:p.Arg1028=
ENST00000642365.2:c.3163A>C	ENSP00000495459.2:p.Arg1055=
ENST00000644417.2:c.*3615A>C	ENSP00000493912.2:n.*3615A>C
ENST00000646464.2:c.*4088A>C	ENSP00000496610.2:n.*4088A>C
ENST00000219476.9:c.3166A>C MANE Select	ENSP00000219476.3:p.Arg1056=
ENST00000350773.9:c.3166A>C	ENSP00000344383.4:p.Arg1056=
ENST00000401874.7:c.3034A>C	ENSP00000384468.2:p.Arg1012=
ENST00000471143.6:c.394A>C	ENSP00000458541.2:n.394A>C
ENST00000568366.6:n.523A>C
ENST00000568454.6:c.3067A>C	ENSP00000454487.1:p.Arg1023=
ENST00000642365.1:c.1820A>C
ENST00000642561.1:c.3037A>C	ENSP00000495099.1:p.Arg1013=
ENST00000642797.1:c.3037A>C	ENSP00000493846.1:p.Arg1013=
ENST00000642936.1:c.3034A>C	ENSP00000494514.1:p.Arg1012=
ENST00000643088.1:c.3034A>C	ENSP00000494747.1:p.Arg1012=
ENST00000643946.1:c.3166A>C	ENSP00000495927.1:p.Arg1056=
ENST00000644043.1:c.3037A>C	ENSP00000496262.1:p.Arg1013=
ENST00000644329.1:c.3034A>C	ENSP00000496611.1:p.Arg1012=
ENST00000644335.1:c.3037A>C	ENSP00000496317.1:p.Arg1013=
ENST00000644399.1:c.3156A>C
ENST00000644722.1:n.312A>C
ENST00000645024.1:n.1319A>C
ENST00000646388.1:c.3166A>C	ENSP00000495921.1:p.Arg1056=
ENST00000646634.1:n.2050A>C
ENST00000647042.1:n.458A>C
ENST00000219476.7:c.3166A>C	ENSP00000219476.3:p.Arg1056=
ENST00000350773.8:c.3166A>C	ENSP00000344383.4:p.Arg1056=
ENST00000382538.10:c.2890A>C	ENSP00000371978.6:p.Arg964=
ENST00000401874.6:c.3034A>C	ENSP00000384468.2:p.Arg1012=
ENST00000439117.6:c.*2333A>C	ENSP00000406980.2:n.*2333A>C
ENST00000439673.6:c.2926A>C	ENSP00000399232.2:p.Arg976=
ENST00000471143.5:c.392A>C
ENST00000483020.5:c.406A>C	ENSP00000460310.1:n.406A>C
ENST00000497886.5:n.993A>C
ENST00000561695.1:n.391A>C
ENST00000568366.5:n.523A>C
ENST00000568454.5:c.3067A>C	ENSP00000454487.1:p.Arg1023=
NM_000548.3:c.3166A>C , LRG_487t1:c.3166A>C	NP_000539.2:p.Arg1056=
NM_001077183.1:c.3034A>C	NP_001070651.1:p.Arg1012=
NM_001114382.1:c.3166A>C	NP_001107854.1:p.Arg1056=
XM_005255529.3:c.3037A>C	XP_005255586.2:p.Arg1013=
XM_005255531.3:c.3037A>C	XP_005255588.2:p.Arg1013=
XM_011522636.1:c.3166A>C	XP_011520938.1:p.Arg1056=
XM_011522637.1:c.3163A>C	XP_011520939.1:p.Arg1055=
XM_011522638.1:c.3055A>C	XP_011520940.1:p.Arg1019=
XM_011522639.1:c.3037A>C	XP_011520941.1:p.Arg1013=
XM_011522640.1:c.3034A>C	XP_011520942.1:p.Arg1012=
XM_011522641.1:c.2926A>C	XP_011520943.1:p.Arg976=
NM_000548.4:c.3166A>C	NP_000539.2:p.Arg1056=
NM_001077183.2:c.3034A>C	NP_001070651.1:p.Arg1012=
NM_001114382.2:c.3166A>C	NP_001107854.1:p.Arg1056=
NM_001318827.1:c.2926A>C	NP_001305756.1:p.Arg976=
NM_001318829.1:c.2890A>C	NP_001305758.1:p.Arg964=
NM_001318831.1:c.2434A>C	NP_001305760.1:p.Arg812=
NM_001318832.1:c.3067A>C	NP_001305761.1:p.Arg1023=
NM_001363528.1:c.3037A>C	NP_001350457.1:p.Arg1013=
NM_021055.2:c.3037A>C	NP_066399.2:p.Arg1013=
XM_005255531.4:c.3037A>C	XP_005255588.2:p.Arg1013=
XM_011522636.2:c.3166A>C	XP_011520938.1:p.Arg1056=
XM_011522637.2:c.3163A>C	XP_011520939.1:p.Arg1055=
XM_011522638.2:c.3328A>C	XP_011520940.2:p.Arg1110=
XM_011522639.2:c.3037A>C	XP_011520941.1:p.Arg1013=
XM_011522640.2:c.3034A>C	XP_011520942.1:p.Arg1012=
XM_017023615.1:c.3163A>C	XP_016879104.1:p.Arg1055=
XM_017023616.1:c.3034A>C	XP_016879105.1:p.Arg1012=
XM_017023617.1:c.3199A>C	XP_016879106.1:p.Arg1067=
XM_017023618.1:c.1822A>C	XP_016879107.1:p.Arg608=
XM_024450413.1:c.3034A>C	XP_024306181.1:p.Arg1012=
NM_000548.5:c.3166A>C MANE Select	NP_000539.2:p.Arg1056=
NM_001370404.1:c.3034A>C	NP_001357333.1:p.Arg1012=
NM_001370405.1:c.3037A>C	NP_001357334.1:p.Arg1013=
NM_001077183.3:c.3034A>C	NP_001070651.1:p.Arg1012=
NM_001114382.3:c.3166A>C	NP_001107854.1:p.Arg1056=
NM_001318827.2:c.2926A>C	NP_001305756.1:p.Arg976=
NM_001318829.2:c.2890A>C	NP_001305758.1:p.Arg964=
NM_001318831.2:c.2434A>C	NP_001305760.1:p.Arg812=
NM_001318832.2:c.3067A>C	NP_001305761.1:p.Arg1023=
NM_001363528.2:c.3037A>C	NP_001350457.1:p.Arg1013=
NM_021055.3:c.3037A>C	NP_066399.2:p.Arg1013=