Canonical Allele Identifier: CA394305034

Gene: TSC2

Linked Data

• dbSNP Id: rs2151553490
• MyVariant Identifiers: chr16:g.2135313G>T (hg19) ; chr16:g.2085312G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085312G>T , CM000678.2:g.2085312G>T	GRCh38
NC_000016.9:g.2135313G>T , CM000678.1:g.2135313G>T	GRCh37
NC_000016.8:g.2075314G>T	NCBI36
NG_005895.1:g.41007G>T , LRG_487:g.41007G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3001G>T	ENSP00000455997.2:n.*3001G>T
ENST00000642206.2:c.4499G>T	ENSP00000495146.2:p.Gly1500Val
ENST00000642365.2:c.4649G>T	ENSP00000495459.2:p.Gly1550Val
ENST00000644417.2:c.*5032G>T	ENSP00000493912.2:n.*5032G>T
ENST00000646464.2:c.*7401G>T	ENSP00000496610.2:n.*7401G>T
ENST00000219476.9:c.4652G>T MANE Select	ENSP00000219476.3:p.Gly1551Val
ENST00000350773.9:c.4583G>T	ENSP00000344383.4:p.Gly1528Val
ENST00000401874.7:c.4451G>T	ENSP00000384468.2:p.Gly1484Val
ENST00000568454.6:c.4484G>T	ENSP00000454487.1:p.Gly1495Val
ENST00000569110.2:c.875G>T
ENST00000569930.2:n.2534G>T
ENST00000642365.1:c.3306G>T
ENST00000642561.1:c.4523G>T	ENSP00000495099.1:p.Gly1508Val
ENST00000642728.1:n.834G>T
ENST00000642791.1:n.249G>T
ENST00000642797.1:c.4454G>T	ENSP00000493846.1:p.Gly1485Val
ENST00000642936.1:c.4520G>T	ENSP00000494514.1:p.Gly1507Val
ENST00000643088.1:c.4445G>T	ENSP00000494747.1:p.Gly1482Val
ENST00000643177.1:n.666G>T
ENST00000643426.1:n.2300G>T
ENST00000643946.1:c.4577G>T	ENSP00000495927.1:p.Gly1526Val
ENST00000644043.1:c.4523G>T	ENSP00000496262.1:p.Gly1508Val
ENST00000644278.1:n.134G>T
ENST00000644329.1:c.4451G>T	ENSP00000496611.1:p.Gly1484Val
ENST00000644335.1:c.4448G>T	ENSP00000496317.1:p.Gly1483Val
ENST00000644399.1:c.4573G>T
ENST00000645024.1:n.2736G>T
ENST00000646388.1:c.4646G>T	ENSP00000495921.1:p.Gly1549Val
ENST00000646634.1:n.3467G>T
ENST00000646674.1:n.1904G>T
ENST00000647042.1:n.1875G>T
ENST00000647180.1:n.1765G>T
ENST00000219476.7:c.4652G>T	ENSP00000219476.3:p.Gly1551Val
ENST00000350773.8:c.4583G>T	ENSP00000344383.4:p.Gly1528Val
ENST00000382538.10:c.4307G>T	ENSP00000371978.6:p.Gly1436Val
ENST00000401874.6:c.4451G>T	ENSP00000384468.2:p.Gly1484Val
ENST00000439117.6:c.*3819G>T	ENSP00000406980.2:n.*3819G>T
ENST00000439673.6:c.4343G>T	ENSP00000399232.2:p.Gly1448Val
ENST00000497886.5:n.2410G>T
ENST00000568454.5:c.4484G>T	ENSP00000454487.1:p.Gly1495Val
ENST00000569110.1:c.834G>T
ENST00000569930.1:n.1767G>T
NM_000548.3:c.4652G>T , LRG_487t1:c.4652G>T	NP_000539.2:p.Gly1551Val
NM_001077183.1:c.4451G>T	NP_001070651.1:p.Gly1484Val
NM_001114382.1:c.4583G>T	NP_001107854.1:p.Gly1528Val
XM_005255529.3:c.4523G>T	XP_005255586.2:p.Gly1508Val
XM_005255531.3:c.4454G>T	XP_005255588.2:p.Gly1485Val
XM_011522636.1:c.4706G>T	XP_011520938.1:p.Gly1569Val
XM_011522637.1:c.4703G>T	XP_011520939.1:p.Gly1568Val
XM_011522638.1:c.4595G>T	XP_011520940.1:p.Gly1532Val
XM_011522639.1:c.4577G>T	XP_011520941.1:p.Gly1526Val
XM_011522640.1:c.4574G>T	XP_011520942.1:p.Gly1525Val
XM_011522641.1:c.4343G>T	XP_011520943.1:p.Gly1448Val
NM_000548.4:c.4652G>T	NP_000539.2:p.Gly1551Val
NM_001077183.2:c.4451G>T	NP_001070651.1:p.Gly1484Val
NM_001114382.2:c.4583G>T	NP_001107854.1:p.Gly1528Val
NM_001318827.1:c.4343G>T	NP_001305756.1:p.Gly1448Val
NM_001318829.1:c.4307G>T	NP_001305758.1:p.Gly1436Val
NM_001318831.1:c.3920G>T	NP_001305760.1:p.Gly1307Val
NM_001318832.1:c.4484G>T	NP_001305761.1:p.Gly1495Val
NM_001363528.1:c.4454G>T	NP_001350457.1:p.Gly1485Val
NM_021055.2:c.4523G>T	NP_066399.2:p.Gly1508Val
XM_005255531.4:c.4454G>T	XP_005255588.2:p.Gly1485Val
XM_011522636.2:c.4706G>T	XP_011520938.1:p.Gly1569Val
XM_011522637.2:c.4703G>T	XP_011520939.1:p.Gly1568Val
XM_011522638.2:c.4868G>T	XP_011520940.2:p.Gly1623Val
XM_011522639.2:c.4577G>T	XP_011520941.1:p.Gly1526Val
XM_011522640.2:c.4574G>T	XP_011520942.1:p.Gly1525Val
XM_017023615.1:c.4649G>T	XP_016879104.1:p.Gly1550Val
XM_017023616.1:c.4520G>T	XP_016879105.1:p.Gly1507Val
XM_017023617.1:c.4616G>T	XP_016879106.1:p.Gly1539Val
XM_017023618.1:c.3362G>T	XP_016879107.1:p.Gly1121Val
XM_024450413.1:c.4451G>T	XP_024306181.1:p.Gly1484Val
NM_000548.5:c.4652G>T MANE Select	NP_000539.2:p.Gly1551Val
NM_001370404.1:c.4520G>T	NP_001357333.1:p.Gly1507Val
NM_001370405.1:c.4523G>T	NP_001357334.1:p.Gly1508Val
NM_001077183.3:c.4451G>T	NP_001070651.1:p.Gly1484Val
NM_001114382.3:c.4583G>T	NP_001107854.1:p.Gly1528Val
NM_001318827.2:c.4343G>T	NP_001305756.1:p.Gly1448Val
NM_001318829.2:c.4307G>T	NP_001305758.1:p.Gly1436Val
NM_001318831.2:c.3920G>T	NP_001305760.1:p.Gly1307Val
NM_001318832.2:c.4484G>T	NP_001305761.1:p.Gly1495Val
NM_001363528.2:c.4454G>T	NP_001350457.1:p.Gly1485Val
NM_021055.3:c.4523G>T	NP_066399.2:p.Gly1508Val