Canonical Allele Identifier: CA492958811

Gene: TSC2

Linked Data

• dbSNP Id: rs202212109
• MyVariant Identifiers: chr16:g.2135320C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085319C>A , CM000678.2:g.2085319C>A	GRCh38
NC_000016.9:g.2135320C>A , CM000678.1:g.2135320C>A	GRCh37
NC_000016.8:g.2075321C>A	NCBI36
NG_005895.1:g.41014C>A , LRG_487:g.41014C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3008C>A	ENSP00000455997.2:n.*3008C>A
ENST00000642206.2:c.4506C>A	ENSP00000495146.2:p.Gly1502=
ENST00000642365.2:c.4656C>A	ENSP00000495459.2:p.Gly1552=
ENST00000644417.2:c.*5039C>A	ENSP00000493912.2:n.*5039C>A
ENST00000646464.2:c.*7408C>A	ENSP00000496610.2:n.*7408C>A
ENST00000219476.9:c.4659C>A MANE Select	ENSP00000219476.3:p.Gly1553=
ENST00000350773.9:c.4590C>A	ENSP00000344383.4:p.Gly1530=
ENST00000401874.7:c.4458C>A	ENSP00000384468.2:p.Gly1486=
ENST00000568454.6:c.4491C>A	ENSP00000454487.1:p.Gly1497=
ENST00000569110.2:c.882C>A
ENST00000569930.2:n.2541C>A
ENST00000642365.1:c.3313C>A
ENST00000642561.1:c.4530C>A	ENSP00000495099.1:p.Gly1510=
ENST00000642728.1:n.841C>A
ENST00000642791.1:n.256C>A
ENST00000642797.1:c.4461C>A	ENSP00000493846.1:p.Gly1487=
ENST00000642936.1:c.4527C>A	ENSP00000494514.1:p.Gly1509=
ENST00000643088.1:c.4452C>A	ENSP00000494747.1:p.Gly1484=
ENST00000643177.1:n.673C>A
ENST00000643426.1:n.2307C>A
ENST00000643946.1:c.4584C>A	ENSP00000495927.1:p.Gly1528=
ENST00000644043.1:c.4530C>A	ENSP00000496262.1:p.Gly1510=
ENST00000644278.1:n.141C>A
ENST00000644329.1:c.4458C>A	ENSP00000496611.1:p.Gly1486=
ENST00000644335.1:c.4455C>A	ENSP00000496317.1:p.Gly1485=
ENST00000644399.1:c.4580C>A
ENST00000645024.1:n.2743C>A
ENST00000646388.1:c.4653C>A	ENSP00000495921.1:p.Gly1551=
ENST00000646634.1:n.3474C>A
ENST00000646674.1:n.1911C>A
ENST00000647042.1:n.1882C>A
ENST00000647180.1:n.1772C>A
ENST00000219476.7:c.4659C>A	ENSP00000219476.3:p.Gly1553=
ENST00000350773.8:c.4590C>A	ENSP00000344383.4:p.Gly1530=
ENST00000382538.10:c.4314C>A	ENSP00000371978.6:p.Gly1438=
ENST00000401874.6:c.4458C>A	ENSP00000384468.2:p.Gly1486=
ENST00000439117.6:c.*3826C>A	ENSP00000406980.2:n.*3826C>A
ENST00000439673.6:c.4350C>A	ENSP00000399232.2:p.Gly1450=
ENST00000497886.5:n.2417C>A
ENST00000568454.5:c.4491C>A	ENSP00000454487.1:p.Gly1497=
ENST00000569110.1:c.841C>A
ENST00000569930.1:n.1774C>A
NM_000548.3:c.4659C>A , LRG_487t1:c.4659C>A	NP_000539.2:p.Gly1553=
NM_001077183.1:c.4458C>A	NP_001070651.1:p.Gly1486=
NM_001114382.1:c.4590C>A	NP_001107854.1:p.Gly1530=
XM_005255529.3:c.4530C>A	XP_005255586.2:p.Gly1510=
XM_005255531.3:c.4461C>A	XP_005255588.2:p.Gly1487=
XM_011522636.1:c.4713C>A	XP_011520938.1:p.Gly1571=
XM_011522637.1:c.4710C>A	XP_011520939.1:p.Gly1570=
XM_011522638.1:c.4602C>A	XP_011520940.1:p.Gly1534=
XM_011522639.1:c.4584C>A	XP_011520941.1:p.Gly1528=
XM_011522640.1:c.4581C>A	XP_011520942.1:p.Gly1527=
XM_011522641.1:c.4350C>A	XP_011520943.1:p.Gly1450=
NM_000548.4:c.4659C>A	NP_000539.2:p.Gly1553=
NM_001077183.2:c.4458C>A	NP_001070651.1:p.Gly1486=
NM_001114382.2:c.4590C>A	NP_001107854.1:p.Gly1530=
NM_001318827.1:c.4350C>A	NP_001305756.1:p.Gly1450=
NM_001318829.1:c.4314C>A	NP_001305758.1:p.Gly1438=
NM_001318831.1:c.3927C>A	NP_001305760.1:p.Gly1309=
NM_001318832.1:c.4491C>A	NP_001305761.1:p.Gly1497=
NM_001363528.1:c.4461C>A	NP_001350457.1:p.Gly1487=
NM_021055.2:c.4530C>A	NP_066399.2:p.Gly1510=
XM_005255531.4:c.4461C>A	XP_005255588.2:p.Gly1487=
XM_011522636.2:c.4713C>A	XP_011520938.1:p.Gly1571=
XM_011522637.2:c.4710C>A	XP_011520939.1:p.Gly1570=
XM_011522638.2:c.4875C>A	XP_011520940.2:p.Gly1625=
XM_011522639.2:c.4584C>A	XP_011520941.1:p.Gly1528=
XM_011522640.2:c.4581C>A	XP_011520942.1:p.Gly1527=
XM_017023615.1:c.4656C>A	XP_016879104.1:p.Gly1552=
XM_017023616.1:c.4527C>A	XP_016879105.1:p.Gly1509=
XM_017023617.1:c.4623C>A	XP_016879106.1:p.Gly1541=
XM_017023618.1:c.3369C>A	XP_016879107.1:p.Gly1123=
XM_024450413.1:c.4458C>A	XP_024306181.1:p.Gly1486=
NM_000548.5:c.4659C>A MANE Select	NP_000539.2:p.Gly1553=
NM_001370404.1:c.4527C>A	NP_001357333.1:p.Gly1509=
NM_001370405.1:c.4530C>A	NP_001357334.1:p.Gly1510=
NM_001077183.3:c.4458C>A	NP_001070651.1:p.Gly1486=
NM_001114382.3:c.4590C>A	NP_001107854.1:p.Gly1530=
NM_001318827.2:c.4350C>A	NP_001305756.1:p.Gly1450=
NM_001318829.2:c.4314C>A	NP_001305758.1:p.Gly1438=
NM_001318831.2:c.3927C>A	NP_001305760.1:p.Gly1309=
NM_001318832.2:c.4491C>A	NP_001305761.1:p.Gly1497=
NM_001363528.2:c.4461C>A	NP_001350457.1:p.Gly1487=
NM_021055.3:c.4530C>A	NP_066399.2:p.Gly1510=