Canonical Allele Identifier: CA492958005

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135254G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085253G>T , CM000678.2:g.2085253G>T	GRCh38
NC_000016.9:g.2135254G>T , CM000678.1:g.2135254G>T	GRCh37
NC_000016.8:g.2075255G>T	NCBI36
NG_005895.1:g.40948G>T , LRG_487:g.40948G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2942G>T	ENSP00000455997.2:n.*2942G>T
ENST00000642206.2:c.4440G>T	ENSP00000495146.2:p.Val1480=
ENST00000642365.2:c.4590G>T	ENSP00000495459.2:p.Val1530=
ENST00000644417.2:c.*4973G>T	ENSP00000493912.2:n.*4973G>T
ENST00000646464.2:c.*7342G>T	ENSP00000496610.2:n.*7342G>T
ENST00000219476.9:c.4593G>T MANE Select	ENSP00000219476.3:p.Val1531=
ENST00000350773.9:c.4524G>T	ENSP00000344383.4:p.Val1508=
ENST00000401874.7:c.4392G>T	ENSP00000384468.2:p.Val1464=
ENST00000568454.6:c.4425G>T	ENSP00000454487.1:p.Val1475=
ENST00000569110.2:c.816G>T
ENST00000569930.2:n.2475G>T
ENST00000642365.1:c.3247G>T
ENST00000642561.1:c.4464G>T	ENSP00000495099.1:p.Val1488=
ENST00000642728.1:n.775G>T
ENST00000642791.1:n.190G>T
ENST00000642797.1:c.4395G>T	ENSP00000493846.1:p.Val1465=
ENST00000642936.1:c.4461G>T	ENSP00000494514.1:p.Val1487=
ENST00000643088.1:c.4386G>T	ENSP00000494747.1:p.Val1462=
ENST00000643177.1:n.607G>T
ENST00000643426.1:n.2241G>T
ENST00000643946.1:c.4518G>T	ENSP00000495927.1:p.Val1506=
ENST00000644043.1:c.4464G>T	ENSP00000496262.1:p.Val1488=
ENST00000644278.1:n.75G>T
ENST00000644329.1:c.4392G>T	ENSP00000496611.1:p.Val1464=
ENST00000644335.1:c.4389G>T	ENSP00000496317.1:p.Val1463=
ENST00000644399.1:c.4514G>T
ENST00000645024.1:n.2677G>T
ENST00000646388.1:c.4587G>T	ENSP00000495921.1:p.Val1529=
ENST00000646634.1:n.3408G>T
ENST00000646674.1:n.1845G>T
ENST00000647042.1:n.1816G>T
ENST00000647180.1:n.1706G>T
ENST00000219476.7:c.4593G>T	ENSP00000219476.3:p.Val1531=
ENST00000350773.8:c.4524G>T	ENSP00000344383.4:p.Val1508=
ENST00000382538.10:c.4248G>T	ENSP00000371978.6:p.Val1416=
ENST00000401874.6:c.4392G>T	ENSP00000384468.2:p.Val1464=
ENST00000439117.6:c.*3760G>T	ENSP00000406980.2:n.*3760G>T
ENST00000439673.6:c.4284G>T	ENSP00000399232.2:p.Val1428=
ENST00000497886.5:n.2351G>T
ENST00000568454.5:c.4425G>T	ENSP00000454487.1:p.Val1475=
ENST00000569110.1:c.775G>T
ENST00000569930.1:n.1708G>T
NM_000548.3:c.4593G>T , LRG_487t1:c.4593G>T	NP_000539.2:p.Val1531=
NM_001077183.1:c.4392G>T	NP_001070651.1:p.Val1464=
NM_001114382.1:c.4524G>T	NP_001107854.1:p.Val1508=
XM_005255529.3:c.4464G>T	XP_005255586.2:p.Val1488=
XM_005255531.3:c.4395G>T	XP_005255588.2:p.Val1465=
XM_011522636.1:c.4647G>T	XP_011520938.1:p.Val1549=
XM_011522637.1:c.4644G>T	XP_011520939.1:p.Val1548=
XM_011522638.1:c.4536G>T	XP_011520940.1:p.Val1512=
XM_011522639.1:c.4518G>T	XP_011520941.1:p.Val1506=
XM_011522640.1:c.4515G>T	XP_011520942.1:p.Val1505=
XM_011522641.1:c.4284G>T	XP_011520943.1:p.Val1428=
NM_000548.4:c.4593G>T	NP_000539.2:p.Val1531=
NM_001077183.2:c.4392G>T	NP_001070651.1:p.Val1464=
NM_001114382.2:c.4524G>T	NP_001107854.1:p.Val1508=
NM_001318827.1:c.4284G>T	NP_001305756.1:p.Val1428=
NM_001318829.1:c.4248G>T	NP_001305758.1:p.Val1416=
NM_001318831.1:c.3861G>T	NP_001305760.1:p.Val1287=
NM_001318832.1:c.4425G>T	NP_001305761.1:p.Val1475=
NM_001363528.1:c.4395G>T	NP_001350457.1:p.Val1465=
NM_021055.2:c.4464G>T	NP_066399.2:p.Val1488=
XM_005255531.4:c.4395G>T	XP_005255588.2:p.Val1465=
XM_011522636.2:c.4647G>T	XP_011520938.1:p.Val1549=
XM_011522637.2:c.4644G>T	XP_011520939.1:p.Val1548=
XM_011522638.2:c.4809G>T	XP_011520940.2:p.Val1603=
XM_011522639.2:c.4518G>T	XP_011520941.1:p.Val1506=
XM_011522640.2:c.4515G>T	XP_011520942.1:p.Val1505=
XM_017023615.1:c.4590G>T	XP_016879104.1:p.Val1530=
XM_017023616.1:c.4461G>T	XP_016879105.1:p.Val1487=
XM_017023617.1:c.4557G>T	XP_016879106.1:p.Val1519=
XM_017023618.1:c.3303G>T	XP_016879107.1:p.Val1101=
XM_024450413.1:c.4392G>T	XP_024306181.1:p.Val1464=
NM_000548.5:c.4593G>T MANE Select	NP_000539.2:p.Val1531=
NM_001370404.1:c.4461G>T	NP_001357333.1:p.Val1487=
NM_001370405.1:c.4464G>T	NP_001357334.1:p.Val1488=
NM_001077183.3:c.4392G>T	NP_001070651.1:p.Val1464=
NM_001114382.3:c.4524G>T	NP_001107854.1:p.Val1508=
NM_001318827.2:c.4284G>T	NP_001305756.1:p.Val1428=
NM_001318829.2:c.4248G>T	NP_001305758.1:p.Val1416=
NM_001318831.2:c.3861G>T	NP_001305760.1:p.Val1287=
NM_001318832.2:c.4425G>T	NP_001305761.1:p.Val1475=
NM_001363528.2:c.4395G>T	NP_001350457.1:p.Val1465=
NM_021055.3:c.4464G>T	NP_066399.2:p.Val1488=