Canonical Allele Identifier: CA492959967

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2136824C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086823C>G , CM000678.2:g.2086823C>G	GRCh38
NC_000016.9:g.2136824C>G , CM000678.1:g.2136824C>G	GRCh37
NC_000016.8:g.2076825C>G	NCBI36
NG_005895.1:g.42518C>G , LRG_487:g.42518C>G
NG_008617.1:g.56398G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3290C>G	ENSP00000455997.2:n.*3290C>G
ENST00000642206.2:c.4788C>G	ENSP00000495146.2:p.Ser1596=
ENST00000642365.2:c.4938C>G	ENSP00000495459.2:p.Ser1646=
ENST00000644417.2:c.*5454C>G	ENSP00000493912.2:n.*5454C>G
ENST00000646464.2:c.*7690C>G	ENSP00000496610.2:n.*7690C>G
ENST00000219476.9:c.4941C>G MANE Select	ENSP00000219476.3:p.Ser1647=
ENST00000350773.9:c.4872C>G	ENSP00000344383.4:p.Ser1624=
ENST00000401874.7:c.4740C>G	ENSP00000384468.2:p.Ser1580=
ENST00000568454.6:c.4773C>G	ENSP00000454487.1:p.Ser1591=
ENST00000569110.2:c.1164C>G
ENST00000569930.2:n.2823C>G
ENST00000642365.1:c.3595C>G
ENST00000642561.1:c.4812C>G	ENSP00000495099.1:p.Ser1604=
ENST00000642728.1:n.1123C>G
ENST00000642791.1:n.538C>G
ENST00000642797.1:c.4743C>G	ENSP00000493846.1:p.Ser1581=
ENST00000642936.1:c.4809C>G	ENSP00000494514.1:p.Ser1603=
ENST00000643088.1:c.4734C>G	ENSP00000494747.1:p.Ser1578=
ENST00000643177.1:n.955C>G
ENST00000643426.1:n.2589C>G
ENST00000643946.1:c.4866C>G	ENSP00000495927.1:p.Ser1622=
ENST00000644043.1:c.4812C>G	ENSP00000496262.1:p.Ser1604=
ENST00000644278.1:n.423C>G
ENST00000644329.1:c.4740C>G	ENSP00000496611.1:p.Ser1580=
ENST00000644335.1:c.4737C>G	ENSP00000496317.1:p.Ser1579=
ENST00000644399.1:c.4862C>G
ENST00000645024.1:n.3025C>G
ENST00000646388.1:c.4935C>G	ENSP00000495921.1:p.Ser1645=
ENST00000646557.1:n.102C>G
ENST00000646634.1:n.3756C>G
ENST00000646674.1:n.2193C>G
ENST00000647042.1:n.2164C>G
ENST00000647180.1:n.2054C>G
ENST00000219476.7:c.4941C>G	ENSP00000219476.3:p.Ser1647=
ENST00000350773.8:c.4872C>G	ENSP00000344383.4:p.Ser1624=
ENST00000382538.10:c.4596C>G	ENSP00000371978.6:p.Ser1532=
ENST00000401874.6:c.4740C>G	ENSP00000384468.2:p.Ser1580=
ENST00000439117.6:c.*4108C>G	ENSP00000406980.2:n.*4108C>G
ENST00000439673.6:c.4632C>G	ENSP00000399232.2:p.Ser1544=
ENST00000497886.5:n.2664C>G
ENST00000568454.5:c.4773C>G	ENSP00000454487.1:p.Ser1591=
ENST00000569110.1:c.1123C>G
ENST00000569930.1:n.2056C>G
NM_000548.3:c.4941C>G , LRG_487t1:c.4941C>G	NP_000539.2:p.Ser1647=
NM_001077183.1:c.4740C>G	NP_001070651.1:p.Ser1580=
NM_001114382.1:c.4872C>G	NP_001107854.1:p.Ser1624=
XM_005255529.3:c.4812C>G	XP_005255586.2:p.Ser1604=
XM_005255531.3:c.4743C>G	XP_005255588.2:p.Ser1581=
XM_011522636.1:c.4995C>G	XP_011520938.1:p.Ser1665=
XM_011522637.1:c.4992C>G	XP_011520939.1:p.Ser1664=
XM_011522638.1:c.4884C>G	XP_011520940.1:p.Ser1628=
XM_011522639.1:c.4866C>G	XP_011520941.1:p.Ser1622=
XM_011522640.1:c.4863C>G	XP_011520942.1:p.Ser1621=
XM_011522641.1:c.4632C>G	XP_011520943.1:p.Ser1544=
NM_000548.4:c.4941C>G	NP_000539.2:p.Ser1647=
NM_001077183.2:c.4740C>G	NP_001070651.1:p.Ser1580=
NM_001114382.2:c.4872C>G	NP_001107854.1:p.Ser1624=
NM_001318827.1:c.4632C>G	NP_001305756.1:p.Ser1544=
NM_001318829.1:c.4596C>G	NP_001305758.1:p.Ser1532=
NM_001318831.1:c.4209C>G	NP_001305760.1:p.Ser1403=
NM_001318832.1:c.4773C>G	NP_001305761.1:p.Ser1591=
NM_001363528.1:c.4743C>G	NP_001350457.1:p.Ser1581=
NM_021055.2:c.4812C>G	NP_066399.2:p.Ser1604=
XM_005255531.4:c.4743C>G	XP_005255588.2:p.Ser1581=
XM_011522636.2:c.4995C>G	XP_011520938.1:p.Ser1665=
XM_011522637.2:c.4992C>G	XP_011520939.1:p.Ser1664=
XM_011522638.2:c.5157C>G	XP_011520940.2:p.Ser1719=
XM_011522639.2:c.4866C>G	XP_011520941.1:p.Ser1622=
XM_011522640.2:c.4863C>G	XP_011520942.1:p.Ser1621=
XM_017023615.1:c.4938C>G	XP_016879104.1:p.Ser1646=
XM_017023616.1:c.4809C>G	XP_016879105.1:p.Ser1603=
XM_017023617.1:c.4905C>G	XP_016879106.1:p.Ser1635=
XM_017023618.1:c.3651C>G	XP_016879107.1:p.Ser1217=
XM_024450413.1:c.4740C>G	XP_024306181.1:p.Ser1580=
NM_000548.5:c.4941C>G MANE Select	NP_000539.2:p.Ser1647=
NM_001370404.1:c.4809C>G	NP_001357333.1:p.Ser1603=
NM_001370405.1:c.4812C>G	NP_001357334.1:p.Ser1604=
NM_001077183.3:c.4740C>G	NP_001070651.1:p.Ser1580=
NM_001114382.3:c.4872C>G	NP_001107854.1:p.Ser1624=
NM_001318827.2:c.4632C>G	NP_001305756.1:p.Ser1544=
NM_001318829.2:c.4596C>G	NP_001305758.1:p.Ser1532=
NM_001318831.2:c.4209C>G	NP_001305760.1:p.Ser1403=
NM_001318832.2:c.4773C>G	NP_001305761.1:p.Ser1591=
NM_001363528.2:c.4743C>G	NP_001350457.1:p.Ser1581=
NM_021055.3:c.4812C>G	NP_066399.2:p.Ser1604=