Canonical Allele Identifier: CA394302086

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2564731
• ClinVar RCV Id: RCV003297163
• MyVariant Identifiers: chr16:g.2134634A>T (hg19) ; chr16:g.2084633A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084633A>T , CM000678.2:g.2084633A>T	GRCh38
NC_000016.9:g.2134634A>T , CM000678.1:g.2134634A>T	GRCh37
NC_000016.8:g.2074635A>T	NCBI36
NG_005895.1:g.40328A>T , LRG_487:g.40328A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2760A>T	ENSP00000455997.2:n.*2760A>T
ENST00000642206.2:c.4258A>T	ENSP00000495146.2:p.Arg1420Trp
ENST00000642365.2:c.4408A>T	ENSP00000495459.2:p.Arg1470Trp
ENST00000644417.2:c.*4791A>T	ENSP00000493912.2:n.*4791A>T
ENST00000646464.2:c.*7160A>T	ENSP00000496610.2:n.*7160A>T
ENST00000219476.9:c.4411A>T MANE Select	ENSP00000219476.3:p.Arg1471Trp
ENST00000350773.9:c.4342A>T	ENSP00000344383.4:p.Arg1448Trp
ENST00000401874.7:c.4210A>T	ENSP00000384468.2:p.Arg1404Trp
ENST00000568454.6:c.4243A>T	ENSP00000454487.1:p.Arg1415Trp
ENST00000569110.2:c.647A>T
ENST00000569930.2:n.2293A>T
ENST00000642365.1:c.3065A>T
ENST00000642561.1:c.4282A>T	ENSP00000495099.1:p.Arg1428Trp
ENST00000642728.1:n.593A>T
ENST00000642797.1:c.4213A>T	ENSP00000493846.1:p.Arg1405Trp
ENST00000642936.1:c.4279A>T	ENSP00000494514.1:p.Arg1427Trp
ENST00000643088.1:c.4210A>T	ENSP00000494747.1:p.Arg1404Trp
ENST00000643177.1:n.425A>T
ENST00000643426.1:n.2059A>T
ENST00000643946.1:c.4342A>T	ENSP00000495927.1:p.Arg1448Trp
ENST00000644043.1:c.4282A>T	ENSP00000496262.1:p.Arg1428Trp
ENST00000644329.1:c.4210A>T	ENSP00000496611.1:p.Arg1404Trp
ENST00000644335.1:c.4213A>T	ENSP00000496317.1:p.Arg1405Trp
ENST00000644399.1:c.4332A>T
ENST00000645024.1:n.2495A>T
ENST00000646388.1:c.4411A>T	ENSP00000495921.1:p.Arg1471Trp
ENST00000646634.1:n.3226A>T
ENST00000646674.1:n.1663A>T
ENST00000647042.1:n.1634A>T
ENST00000647180.1:n.1524A>T
ENST00000219476.7:c.4411A>T	ENSP00000219476.3:p.Arg1471Trp
ENST00000350773.8:c.4342A>T	ENSP00000344383.4:p.Arg1448Trp
ENST00000382538.10:c.4066A>T	ENSP00000371978.6:p.Arg1356Trp
ENST00000401874.6:c.4210A>T	ENSP00000384468.2:p.Arg1404Trp
ENST00000439117.6:c.*3578A>T	ENSP00000406980.2:n.*3578A>T
ENST00000439673.6:c.4102A>T	ENSP00000399232.2:p.Arg1368Trp
ENST00000497886.5:n.2169A>T
ENST00000568454.5:c.4243A>T	ENSP00000454487.1:p.Arg1415Trp
ENST00000569110.1:c.593A>T
ENST00000569930.1:n.1526A>T
NM_000548.3:c.4411A>T , LRG_487t1:c.4411A>T	NP_000539.2:p.Arg1471Trp
NM_001077183.1:c.4210A>T	NP_001070651.1:p.Arg1404Trp
NM_001114382.1:c.4342A>T	NP_001107854.1:p.Arg1448Trp
XM_005255529.3:c.4282A>T	XP_005255586.2:p.Arg1428Trp
XM_005255531.3:c.4213A>T	XP_005255588.2:p.Arg1405Trp
XM_011522636.1:c.4465A>T	XP_011520938.1:p.Arg1489Trp
XM_011522637.1:c.4462A>T	XP_011520939.1:p.Arg1488Trp
XM_011522638.1:c.4354A>T	XP_011520940.1:p.Arg1452Trp
XM_011522639.1:c.4336A>T	XP_011520941.1:p.Arg1446Trp
XM_011522640.1:c.4333A>T	XP_011520942.1:p.Arg1445Trp
XM_011522641.1:c.4102A>T	XP_011520943.1:p.Arg1368Trp
NM_000548.4:c.4411A>T	NP_000539.2:p.Arg1471Trp
NM_001077183.2:c.4210A>T	NP_001070651.1:p.Arg1404Trp
NM_001114382.2:c.4342A>T	NP_001107854.1:p.Arg1448Trp
NM_001318827.1:c.4102A>T	NP_001305756.1:p.Arg1368Trp
NM_001318829.1:c.4066A>T	NP_001305758.1:p.Arg1356Trp
NM_001318831.1:c.3679A>T	NP_001305760.1:p.Arg1227Trp
NM_001318832.1:c.4243A>T	NP_001305761.1:p.Arg1415Trp
NM_001363528.1:c.4213A>T	NP_001350457.1:p.Arg1405Trp
NM_021055.2:c.4282A>T	NP_066399.2:p.Arg1428Trp
XM_005255531.4:c.4213A>T	XP_005255588.2:p.Arg1405Trp
XM_011522636.2:c.4465A>T	XP_011520938.1:p.Arg1489Trp
XM_011522637.2:c.4462A>T	XP_011520939.1:p.Arg1488Trp
XM_011522638.2:c.4627A>T	XP_011520940.2:p.Arg1543Trp
XM_011522639.2:c.4336A>T	XP_011520941.1:p.Arg1446Trp
XM_011522640.2:c.4333A>T	XP_011520942.1:p.Arg1445Trp
XM_017023615.1:c.4408A>T	XP_016879104.1:p.Arg1470Trp
XM_017023616.1:c.4279A>T	XP_016879105.1:p.Arg1427Trp
XM_017023617.1:c.4375A>T	XP_016879106.1:p.Arg1459Trp
XM_017023618.1:c.3121A>T	XP_016879107.1:p.Arg1041Trp
XM_024450413.1:c.4210A>T	XP_024306181.1:p.Arg1404Trp
NM_000548.5:c.4411A>T MANE Select	NP_000539.2:p.Arg1471Trp
NM_001370404.1:c.4279A>T	NP_001357333.1:p.Arg1427Trp
NM_001370405.1:c.4282A>T	NP_001357334.1:p.Arg1428Trp
NM_001077183.3:c.4210A>T	NP_001070651.1:p.Arg1404Trp
NM_001114382.3:c.4342A>T	NP_001107854.1:p.Arg1448Trp
NM_001318827.2:c.4102A>T	NP_001305756.1:p.Arg1368Trp
NM_001318829.2:c.4066A>T	NP_001305758.1:p.Arg1356Trp
NM_001318831.2:c.3679A>T	NP_001305760.1:p.Arg1227Trp
NM_001318832.2:c.4243A>T	NP_001305761.1:p.Arg1415Trp
NM_001363528.2:c.4213A>T	NP_001350457.1:p.Arg1405Trp
NM_021055.3:c.4282A>T	NP_066399.2:p.Arg1428Trp