Canonical Allele Identifier: CA394299253

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2134255G>C (hg19) ; chr16:g.2084254G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084254G>C , CM000678.2:g.2084254G>C	GRCh38
NC_000016.9:g.2134255G>C , CM000678.1:g.2134255G>C	GRCh37
NC_000016.8:g.2074256G>C	NCBI36
NG_005895.1:g.39949G>C , LRG_487:g.39949G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2381G>C	ENSP00000455997.2:n.*2381G>C
ENST00000642206.2:c.3879G>C	ENSP00000495146.2:p.Glu1293Asp
ENST00000642365.2:c.4029G>C	ENSP00000495459.2:p.Glu1343Asp
ENST00000644417.2:c.*4412G>C	ENSP00000493912.2:n.*4412G>C
ENST00000646464.2:c.*6781G>C	ENSP00000496610.2:n.*6781G>C
ENST00000219476.9:c.4032G>C MANE Select	ENSP00000219476.3:p.Glu1344Asp
ENST00000350773.9:c.3963G>C	ENSP00000344383.4:p.Glu1321Asp
ENST00000401874.7:c.3831G>C	ENSP00000384468.2:p.Glu1277Asp
ENST00000568454.6:c.3864G>C	ENSP00000454487.1:p.Glu1288Asp
ENST00000569110.2:c.268G>C
ENST00000569930.2:n.1914G>C
ENST00000642365.1:c.2686G>C
ENST00000642561.1:c.3903G>C	ENSP00000495099.1:p.Glu1301Asp
ENST00000642728.1:n.214G>C
ENST00000642797.1:c.3834G>C	ENSP00000493846.1:p.Glu1278Asp
ENST00000642936.1:c.3900G>C	ENSP00000494514.1:p.Glu1300Asp
ENST00000643088.1:c.3831G>C	ENSP00000494747.1:p.Glu1277Asp
ENST00000643177.1:n.46G>C
ENST00000643426.1:n.1680G>C
ENST00000643533.1:n.473G>C
ENST00000643946.1:c.3963G>C	ENSP00000495927.1:p.Glu1321Asp
ENST00000644043.1:c.3903G>C	ENSP00000496262.1:p.Glu1301Asp
ENST00000644329.1:c.3831G>C	ENSP00000496611.1:p.Glu1277Asp
ENST00000644335.1:c.3834G>C	ENSP00000496317.1:p.Glu1278Asp
ENST00000644399.1:c.3953G>C
ENST00000645024.1:n.2116G>C
ENST00000645186.1:c.275G>C
ENST00000646388.1:c.4032G>C	ENSP00000495921.1:p.Glu1344Asp
ENST00000646634.1:n.2847G>C
ENST00000646674.1:n.1284G>C
ENST00000647042.1:n.1255G>C
ENST00000647180.1:n.1145G>C
ENST00000219476.7:c.4032G>C	ENSP00000219476.3:p.Glu1344Asp
ENST00000350773.8:c.3963G>C	ENSP00000344383.4:p.Glu1321Asp
ENST00000382538.10:c.3687G>C	ENSP00000371978.6:p.Glu1229Asp
ENST00000401874.6:c.3831G>C	ENSP00000384468.2:p.Glu1277Asp
ENST00000439117.6:c.*3199G>C	ENSP00000406980.2:n.*3199G>C
ENST00000439673.6:c.3723G>C	ENSP00000399232.2:p.Glu1241Asp
ENST00000497886.5:n.1790G>C
ENST00000568454.5:c.3864G>C	ENSP00000454487.1:p.Glu1288Asp
ENST00000569110.1:c.214G>C
ENST00000569930.1:n.1147G>C
NM_000548.3:c.4032G>C , LRG_487t1:c.4032G>C	NP_000539.2:p.Glu1344Asp
NM_001077183.1:c.3831G>C	NP_001070651.1:p.Glu1277Asp
NM_001114382.1:c.3963G>C	NP_001107854.1:p.Glu1321Asp
XM_005255529.3:c.3903G>C	XP_005255586.2:p.Glu1301Asp
XM_005255531.3:c.3834G>C	XP_005255588.2:p.Glu1278Asp
XM_011522636.1:c.4086G>C	XP_011520938.1:p.Glu1362Asp
XM_011522637.1:c.4083G>C	XP_011520939.1:p.Glu1361Asp
XM_011522638.1:c.3975G>C	XP_011520940.1:p.Glu1325Asp
XM_011522639.1:c.3957G>C	XP_011520941.1:p.Glu1319Asp
XM_011522640.1:c.3954G>C	XP_011520942.1:p.Glu1318Asp
XM_011522641.1:c.3723G>C	XP_011520943.1:p.Glu1241Asp
NM_000548.4:c.4032G>C	NP_000539.2:p.Glu1344Asp
NM_001077183.2:c.3831G>C	NP_001070651.1:p.Glu1277Asp
NM_001114382.2:c.3963G>C	NP_001107854.1:p.Glu1321Asp
NM_001318827.1:c.3723G>C	NP_001305756.1:p.Glu1241Asp
NM_001318829.1:c.3687G>C	NP_001305758.1:p.Glu1229Asp
NM_001318831.1:c.3300G>C	NP_001305760.1:p.Glu1100Asp
NM_001318832.1:c.3864G>C	NP_001305761.1:p.Glu1288Asp
NM_001363528.1:c.3834G>C	NP_001350457.1:p.Glu1278Asp
NM_021055.2:c.3903G>C	NP_066399.2:p.Glu1301Asp
XM_005255531.4:c.3834G>C	XP_005255588.2:p.Glu1278Asp
XM_011522636.2:c.4086G>C	XP_011520938.1:p.Glu1362Asp
XM_011522637.2:c.4083G>C	XP_011520939.1:p.Glu1361Asp
XM_011522638.2:c.4248G>C	XP_011520940.2:p.Glu1416Asp
XM_011522639.2:c.3957G>C	XP_011520941.1:p.Glu1319Asp
XM_011522640.2:c.3954G>C	XP_011520942.1:p.Glu1318Asp
XM_017023615.1:c.4029G>C	XP_016879104.1:p.Glu1343Asp
XM_017023616.1:c.3900G>C	XP_016879105.1:p.Glu1300Asp
XM_017023617.1:c.3996G>C	XP_016879106.1:p.Glu1332Asp
XM_017023618.1:c.2742G>C	XP_016879107.1:p.Glu914Asp
XM_024450413.1:c.3831G>C	XP_024306181.1:p.Glu1277Asp
NM_000548.5:c.4032G>C MANE Select	NP_000539.2:p.Glu1344Asp
NM_001370404.1:c.3900G>C	NP_001357333.1:p.Glu1300Asp
NM_001370405.1:c.3903G>C	NP_001357334.1:p.Glu1301Asp
NM_001077183.3:c.3831G>C	NP_001070651.1:p.Glu1277Asp
NM_001114382.3:c.3963G>C	NP_001107854.1:p.Glu1321Asp
NM_001318827.2:c.3723G>C	NP_001305756.1:p.Glu1241Asp
NM_001318829.2:c.3687G>C	NP_001305758.1:p.Glu1229Asp
NM_001318831.2:c.3300G>C	NP_001305760.1:p.Glu1100Asp
NM_001318832.2:c.3864G>C	NP_001305761.1:p.Glu1288Asp
NM_001363528.2:c.3834G>C	NP_001350457.1:p.Glu1278Asp
NM_021055.3:c.3903G>C	NP_066399.2:p.Glu1301Asp