Canonical Allele Identifier: CA493043831

Gene: TSC2

Linked Data

• dbSNP Id: rs772865175
• MyVariant Identifiers: chr16:g.2138299C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088298C>A , CM000678.2:g.2088298C>A	GRCh38
NC_000016.9:g.2138299C>A , CM000678.1:g.2138299C>A	GRCh37
NC_000016.8:g.2078300C>A	NCBI36
NG_005895.1:g.43993C>A , LRG_487:g.43993C>A
NG_008617.1:g.54923G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3581C>A	ENSP00000455997.2:n.*3581C>A
ENST00000642206.2:c.5079C>A	ENSP00000495146.2:p.Leu1693=
ENST00000642365.2:c.5229C>A	ENSP00000495459.2:p.Leu1743=
ENST00000644417.2:c.*5745C>A	ENSP00000493912.2:n.*5745C>A
ENST00000646464.2:c.*7981C>A	ENSP00000496610.2:n.*7981C>A
ENST00000219476.9:c.5232C>A MANE Select	ENSP00000219476.3:p.Leu1744=
ENST00000350773.9:c.5163C>A	ENSP00000344383.4:p.Leu1721=
ENST00000401874.7:c.5031C>A	ENSP00000384468.2:p.Leu1677=
ENST00000568454.6:c.5064C>A	ENSP00000454487.1:p.Leu1688=
ENST00000569110.2:c.1455C>A
ENST00000569930.2:n.3114C>A
ENST00000642365.1:c.3886C>A
ENST00000642561.1:c.5091C>A	ENSP00000495099.1:p.Leu1697=
ENST00000642791.1:n.829C>A
ENST00000642797.1:c.5034C>A	ENSP00000493846.1:p.Leu1678=
ENST00000642936.1:c.5100C>A	ENSP00000494514.1:p.Leu1700=
ENST00000643088.1:c.5025C>A	ENSP00000494747.1:p.Leu1675=
ENST00000643426.1:n.2880C>A
ENST00000643946.1:c.5157C>A	ENSP00000495927.1:p.Leu1719=
ENST00000644043.1:c.5103C>A	ENSP00000496262.1:p.Leu1701=
ENST00000644329.1:c.5118C>A	ENSP00000496611.1:p.Leu1706=
ENST00000644335.1:c.5028C>A	ENSP00000496317.1:p.Leu1676=
ENST00000644399.1:c.5153C>A
ENST00000645024.1:n.3316C>A
ENST00000646388.1:c.5226C>A	ENSP00000495921.1:p.Leu1742=
ENST00000646634.1:n.4047C>A
ENST00000646674.1:n.2484C>A
ENST00000647042.1:n.2455C>A
ENST00000647180.1:n.2345C>A
ENST00000219476.7:c.5232C>A	ENSP00000219476.3:p.Leu1744=
ENST00000350773.8:c.5163C>A	ENSP00000344383.4:p.Leu1721=
ENST00000382538.10:c.4887C>A	ENSP00000371978.6:p.Leu1629=
ENST00000401874.6:c.5031C>A	ENSP00000384468.2:p.Leu1677=
ENST00000439117.6:c.*4399C>A	ENSP00000406980.2:n.*4399C>A
ENST00000439673.6:c.4923C>A	ENSP00000399232.2:p.Leu1641=
ENST00000497886.5:n.2955C>A
ENST00000568454.5:c.5064C>A	ENSP00000454487.1:p.Leu1688=
ENST00000569110.1:c.1414C>A
ENST00000569930.1:n.2347C>A
NM_000548.3:c.5232C>A , LRG_487t1:c.5232C>A	NP_000539.2:p.Leu1744=
NM_001077183.1:c.5031C>A	NP_001070651.1:p.Leu1677=
NM_001114382.1:c.5163C>A	NP_001107854.1:p.Leu1721=
XM_005255529.3:c.5103C>A	XP_005255586.2:p.Leu1701=
XM_005255531.3:c.5034C>A	XP_005255588.2:p.Leu1678=
XM_011522636.1:c.5286C>A	XP_011520938.1:p.Leu1762=
XM_011522637.1:c.5283C>A	XP_011520939.1:p.Leu1761=
XM_011522638.1:c.5175C>A	XP_011520940.1:p.Leu1725=
XM_011522639.1:c.5157C>A	XP_011520941.1:p.Leu1719=
XM_011522640.1:c.5154C>A	XP_011520942.1:p.Leu1718=
XM_011522641.1:c.4923C>A	XP_011520943.1:p.Leu1641=
NM_000548.4:c.5232C>A	NP_000539.2:p.Leu1744=
NM_001077183.2:c.5031C>A	NP_001070651.1:p.Leu1677=
NM_001114382.2:c.5163C>A	NP_001107854.1:p.Leu1721=
NM_001318827.1:c.4923C>A	NP_001305756.1:p.Leu1641=
NM_001318829.1:c.4887C>A	NP_001305758.1:p.Leu1629=
NM_001318831.1:c.4500C>A	NP_001305760.1:p.Leu1500=
NM_001318832.1:c.5064C>A	NP_001305761.1:p.Leu1688=
NM_001363528.1:c.5034C>A	NP_001350457.1:p.Leu1678=
NM_021055.2:c.5103C>A	NP_066399.2:p.Leu1701=
XM_005255531.4:c.5034C>A	XP_005255588.2:p.Leu1678=
XM_011522636.2:c.5286C>A	XP_011520938.1:p.Leu1762=
XM_011522637.2:c.5283C>A	XP_011520939.1:p.Leu1761=
XM_011522638.2:c.5448C>A	XP_011520940.2:p.Leu1816=
XM_011522639.2:c.5157C>A	XP_011520941.1:p.Leu1719=
XM_011522640.2:c.5154C>A	XP_011520942.1:p.Leu1718=
XM_017023615.1:c.5229C>A	XP_016879104.1:p.Leu1743=
XM_017023616.1:c.5100C>A	XP_016879105.1:p.Leu1700=
XM_017023617.1:c.5196C>A	XP_016879106.1:p.Leu1732=
XM_017023618.1:c.3942C>A	XP_016879107.1:p.Leu1314=
XM_024450413.1:c.5118C>A	XP_024306181.1:p.Leu1706=
NM_000548.5:c.5232C>A MANE Select	NP_000539.2:p.Leu1744=
NM_001370404.1:c.5100C>A	NP_001357333.1:p.Leu1700=
NM_001370405.1:c.5091C>A	NP_001357334.1:p.Leu1697=
NM_001077183.3:c.5031C>A	NP_001070651.1:p.Leu1677=
NM_001114382.3:c.5163C>A	NP_001107854.1:p.Leu1721=
NM_001318827.2:c.4923C>A	NP_001305756.1:p.Leu1641=
NM_001318829.2:c.4887C>A	NP_001305758.1:p.Leu1629=
NM_001318831.2:c.4500C>A	NP_001305760.1:p.Leu1500=
NM_001318832.2:c.5064C>A	NP_001305761.1:p.Leu1688=
NM_001363528.2:c.5034C>A	NP_001350457.1:p.Leu1678=
NM_021055.3:c.5103C>A	NP_066399.2:p.Leu1701=