Canonical Allele Identifier: CA493043821

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2564644
• ClinVar RCV Id: RCV003297076 ; RCV003626844
• MyVariant Identifiers: chr16:g.2138293C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088292C>T , CM000678.2:g.2088292C>T	GRCh38
NC_000016.9:g.2138293C>T , CM000678.1:g.2138293C>T	GRCh37
NC_000016.8:g.2078294C>T	NCBI36
NG_005895.1:g.43987C>T , LRG_487:g.43987C>T
NG_008617.1:g.54929G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3575C>T	ENSP00000455997.2:n.*3575C>T
ENST00000642206.2:c.5073C>T	ENSP00000495146.2:p.Ala1691=
ENST00000642365.2:c.5223C>T	ENSP00000495459.2:p.Ala1741=
ENST00000644417.2:c.*5739C>T	ENSP00000493912.2:n.*5739C>T
ENST00000646464.2:c.*7975C>T	ENSP00000496610.2:n.*7975C>T
ENST00000219476.9:c.5226C>T MANE Select	ENSP00000219476.3:p.Ala1742=
ENST00000350773.9:c.5157C>T	ENSP00000344383.4:p.Ala1719=
ENST00000401874.7:c.5025C>T	ENSP00000384468.2:p.Ala1675=
ENST00000568454.6:c.5058C>T	ENSP00000454487.1:p.Ala1686=
ENST00000569110.2:c.1449C>T
ENST00000569930.2:n.3108C>T
ENST00000642365.1:c.3880C>T
ENST00000642561.1:c.5085C>T	ENSP00000495099.1:p.Ala1695=
ENST00000642791.1:n.823C>T
ENST00000642797.1:c.5028C>T	ENSP00000493846.1:p.Ala1676=
ENST00000642936.1:c.5094C>T	ENSP00000494514.1:p.Ala1698=
ENST00000643088.1:c.5019C>T	ENSP00000494747.1:p.Ala1673=
ENST00000643426.1:n.2874C>T
ENST00000643946.1:c.5151C>T	ENSP00000495927.1:p.Ala1717=
ENST00000644043.1:c.5097C>T	ENSP00000496262.1:p.Ala1699=
ENST00000644329.1:c.5112C>T	ENSP00000496611.1:p.Ala1704=
ENST00000644335.1:c.5022C>T	ENSP00000496317.1:p.Ala1674=
ENST00000644399.1:c.5147C>T
ENST00000645024.1:n.3310C>T
ENST00000646388.1:c.5220C>T	ENSP00000495921.1:p.Ala1740=
ENST00000646634.1:n.4041C>T
ENST00000646674.1:n.2478C>T
ENST00000647042.1:n.2449C>T
ENST00000647180.1:n.2339C>T
ENST00000219476.7:c.5226C>T	ENSP00000219476.3:p.Ala1742=
ENST00000350773.8:c.5157C>T	ENSP00000344383.4:p.Ala1719=
ENST00000382538.10:c.4881C>T	ENSP00000371978.6:p.Ala1627=
ENST00000401874.6:c.5025C>T	ENSP00000384468.2:p.Ala1675=
ENST00000439117.6:c.*4393C>T	ENSP00000406980.2:n.*4393C>T
ENST00000439673.6:c.4917C>T	ENSP00000399232.2:p.Ala1639=
ENST00000497886.5:n.2949C>T
ENST00000568454.5:c.5058C>T	ENSP00000454487.1:p.Ala1686=
ENST00000569110.1:c.1408C>T
ENST00000569930.1:n.2341C>T
NM_000548.3:c.5226C>T , LRG_487t1:c.5226C>T	NP_000539.2:p.Ala1742=
NM_001077183.1:c.5025C>T	NP_001070651.1:p.Ala1675=
NM_001114382.1:c.5157C>T	NP_001107854.1:p.Ala1719=
XM_005255529.3:c.5097C>T	XP_005255586.2:p.Ala1699=
XM_005255531.3:c.5028C>T	XP_005255588.2:p.Ala1676=
XM_011522636.1:c.5280C>T	XP_011520938.1:p.Ala1760=
XM_011522637.1:c.5277C>T	XP_011520939.1:p.Ala1759=
XM_011522638.1:c.5169C>T	XP_011520940.1:p.Ala1723=
XM_011522639.1:c.5151C>T	XP_011520941.1:p.Ala1717=
XM_011522640.1:c.5148C>T	XP_011520942.1:p.Ala1716=
XM_011522641.1:c.4917C>T	XP_011520943.1:p.Ala1639=
NM_000548.4:c.5226C>T	NP_000539.2:p.Ala1742=
NM_001077183.2:c.5025C>T	NP_001070651.1:p.Ala1675=
NM_001114382.2:c.5157C>T	NP_001107854.1:p.Ala1719=
NM_001318827.1:c.4917C>T	NP_001305756.1:p.Ala1639=
NM_001318829.1:c.4881C>T	NP_001305758.1:p.Ala1627=
NM_001318831.1:c.4494C>T	NP_001305760.1:p.Ala1498=
NM_001318832.1:c.5058C>T	NP_001305761.1:p.Ala1686=
NM_001363528.1:c.5028C>T	NP_001350457.1:p.Ala1676=
NM_021055.2:c.5097C>T	NP_066399.2:p.Ala1699=
XM_005255531.4:c.5028C>T	XP_005255588.2:p.Ala1676=
XM_011522636.2:c.5280C>T	XP_011520938.1:p.Ala1760=
XM_011522637.2:c.5277C>T	XP_011520939.1:p.Ala1759=
XM_011522638.2:c.5442C>T	XP_011520940.2:p.Ala1814=
XM_011522639.2:c.5151C>T	XP_011520941.1:p.Ala1717=
XM_011522640.2:c.5148C>T	XP_011520942.1:p.Ala1716=
XM_017023615.1:c.5223C>T	XP_016879104.1:p.Ala1741=
XM_017023616.1:c.5094C>T	XP_016879105.1:p.Ala1698=
XM_017023617.1:c.5190C>T	XP_016879106.1:p.Ala1730=
XM_017023618.1:c.3936C>T	XP_016879107.1:p.Ala1312=
XM_024450413.1:c.5112C>T	XP_024306181.1:p.Ala1704=
NM_000548.5:c.5226C>T MANE Select	NP_000539.2:p.Ala1742=
NM_001370404.1:c.5094C>T	NP_001357333.1:p.Ala1698=
NM_001370405.1:c.5085C>T	NP_001357334.1:p.Ala1695=
NM_001077183.3:c.5025C>T	NP_001070651.1:p.Ala1675=
NM_001114382.3:c.5157C>T	NP_001107854.1:p.Ala1719=
NM_001318827.2:c.4917C>T	NP_001305756.1:p.Ala1639=
NM_001318829.2:c.4881C>T	NP_001305758.1:p.Ala1627=
NM_001318831.2:c.4494C>T	NP_001305760.1:p.Ala1498=
NM_001318832.2:c.5058C>T	NP_001305761.1:p.Ala1686=
NM_001363528.2:c.5028C>T	NP_001350457.1:p.Ala1676=
NM_021055.3:c.5097C>T	NP_066399.2:p.Ala1699=