Canonical Allele Identifier: CA493043681

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1151320
• ClinVar RCV Id: RCV001492179
• dbSNP Id: rs2151638999
• MyVariant Identifiers: chr16:g.2138485T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088484T>A , CM000678.2:g.2088484T>A	GRCh38
NC_000016.9:g.2138485T>A , CM000678.1:g.2138485T>A	GRCh37
NC_000016.8:g.2078486T>A	NCBI36
NG_005895.1:g.44179T>A , LRG_487:g.44179T>A
NG_008617.1:g.54737A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3647T>A	ENSP00000455997.2:n.*3647T>A
ENST00000642206.2:c.5145T>A	ENSP00000495146.2:p.Pro1715=
ENST00000642365.2:c.5295T>A	ENSP00000495459.2:p.Pro1765=
ENST00000644417.2:c.*5811T>A	ENSP00000493912.2:n.*5811T>A
ENST00000646464.2:c.*8047T>A	ENSP00000496610.2:n.*8047T>A
ENST00000219476.9:c.5298T>A MANE Select	ENSP00000219476.3:p.Pro1766=
ENST00000350773.9:c.5229T>A	ENSP00000344383.4:p.Pro1743=
ENST00000401874.7:c.5097T>A	ENSP00000384468.2:p.Pro1699=
ENST00000568454.6:c.5130T>A	ENSP00000454487.1:p.Pro1710=
ENST00000569110.2:c.1521T>A
ENST00000569930.2:n.3180T>A
ENST00000642365.1:c.3952T>A
ENST00000642561.1:c.5157T>A	ENSP00000495099.1:p.Pro1719=
ENST00000642791.1:n.895T>A
ENST00000642797.1:c.5100T>A	ENSP00000493846.1:p.Pro1700=
ENST00000642936.1:c.5166T>A	ENSP00000494514.1:p.Pro1722=
ENST00000643088.1:c.5091T>A	ENSP00000494747.1:p.Pro1697=
ENST00000643426.1:n.2946T>A
ENST00000643946.1:c.5223T>A	ENSP00000495927.1:p.Pro1741=
ENST00000644043.1:c.5169T>A	ENSP00000496262.1:p.Pro1723=
ENST00000644329.1:c.5184T>A	ENSP00000496611.1:p.Pro1728=
ENST00000644335.1:c.5094T>A	ENSP00000496317.1:p.Pro1698=
ENST00000644399.1:c.5219T>A
ENST00000645024.1:n.3382T>A
ENST00000646388.1:c.5292T>A	ENSP00000495921.1:p.Pro1764=
ENST00000646634.1:n.4113T>A
ENST00000646674.1:n.2550T>A
ENST00000647042.1:n.2521T>A
ENST00000647180.1:n.2411T>A
ENST00000219476.7:c.5298T>A	ENSP00000219476.3:p.Pro1766=
ENST00000350773.8:c.5229T>A	ENSP00000344383.4:p.Pro1743=
ENST00000382538.10:c.4953T>A	ENSP00000371978.6:p.Pro1651=
ENST00000401874.6:c.5097T>A	ENSP00000384468.2:p.Pro1699=
ENST00000439117.6:c.*4465T>A	ENSP00000406980.2:n.*4465T>A
ENST00000439673.6:c.4989T>A	ENSP00000399232.2:p.Pro1663=
ENST00000497886.5:n.3021T>A
ENST00000568454.5:c.5130T>A	ENSP00000454487.1:p.Pro1710=
ENST00000569110.1:c.1480T>A
ENST00000569930.1:n.2413T>A
NM_000548.3:c.5298T>A , LRG_487t1:c.5298T>A	NP_000539.2:p.Pro1766=
NM_001077183.1:c.5097T>A	NP_001070651.1:p.Pro1699=
NM_001114382.1:c.5229T>A	NP_001107854.1:p.Pro1743=
XM_005255529.3:c.5169T>A	XP_005255586.2:p.Pro1723=
XM_005255531.3:c.5100T>A	XP_005255588.2:p.Pro1700=
XM_011522636.1:c.5352T>A	XP_011520938.1:p.Pro1784=
XM_011522637.1:c.5349T>A	XP_011520939.1:p.Pro1783=
XM_011522638.1:c.5241T>A	XP_011520940.1:p.Pro1747=
XM_011522639.1:c.5223T>A	XP_011520941.1:p.Pro1741=
XM_011522640.1:c.5220T>A	XP_011520942.1:p.Pro1740=
XM_011522641.1:c.4989T>A	XP_011520943.1:p.Pro1663=
NM_000548.4:c.5298T>A	NP_000539.2:p.Pro1766=
NM_001077183.2:c.5097T>A	NP_001070651.1:p.Pro1699=
NM_001114382.2:c.5229T>A	NP_001107854.1:p.Pro1743=
NM_001318827.1:c.4989T>A	NP_001305756.1:p.Pro1663=
NM_001318829.1:c.4953T>A	NP_001305758.1:p.Pro1651=
NM_001318831.1:c.4566T>A	NP_001305760.1:p.Pro1522=
NM_001318832.1:c.5130T>A	NP_001305761.1:p.Pro1710=
NM_001363528.1:c.5100T>A	NP_001350457.1:p.Pro1700=
NM_021055.2:c.5169T>A	NP_066399.2:p.Pro1723=
XM_005255531.4:c.5100T>A	XP_005255588.2:p.Pro1700=
XM_011522636.2:c.5352T>A	XP_011520938.1:p.Pro1784=
XM_011522637.2:c.5349T>A	XP_011520939.1:p.Pro1783=
XM_011522638.2:c.5514T>A	XP_011520940.2:p.Pro1838=
XM_011522639.2:c.5223T>A	XP_011520941.1:p.Pro1741=
XM_011522640.2:c.5220T>A	XP_011520942.1:p.Pro1740=
XM_017023615.1:c.5295T>A	XP_016879104.1:p.Pro1765=
XM_017023616.1:c.5166T>A	XP_016879105.1:p.Pro1722=
XM_017023617.1:c.5262T>A	XP_016879106.1:p.Pro1754=
XM_017023618.1:c.4008T>A	XP_016879107.1:p.Pro1336=
XM_024450413.1:c.5184T>A	XP_024306181.1:p.Pro1728=
NM_000548.5:c.5298T>A MANE Select	NP_000539.2:p.Pro1766=
NM_001370404.1:c.5166T>A	NP_001357333.1:p.Pro1722=
NM_001370405.1:c.5157T>A	NP_001357334.1:p.Pro1719=
NM_001077183.3:c.5097T>A	NP_001070651.1:p.Pro1699=
NM_001114382.3:c.5229T>A	NP_001107854.1:p.Pro1743=
NM_001318827.2:c.4989T>A	NP_001305756.1:p.Pro1663=
NM_001318829.2:c.4953T>A	NP_001305758.1:p.Pro1651=
NM_001318831.2:c.4566T>A	NP_001305760.1:p.Pro1522=
NM_001318832.2:c.5130T>A	NP_001305761.1:p.Pro1710=
NM_001363528.2:c.5100T>A	NP_001350457.1:p.Pro1700=
NM_021055.3:c.5169T>A	NP_066399.2:p.Pro1723=