Canonical Allele Identifier: CA394314811

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2814113
• ClinVar RCV Id: RCV003627868
• dbSNP Id: rs756358402
• MyVariant Identifiers: chr16:g.2138324C>G (hg19) ; chr16:g.2088323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088323C>G , CM000678.2:g.2088323C>G	GRCh38
NC_000016.9:g.2138324C>G , CM000678.1:g.2138324C>G	GRCh37
NC_000016.8:g.2078325C>G	NCBI36
NG_005895.1:g.44018C>G , LRG_487:g.44018C>G
NG_008617.1:g.54898G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3606C>G	ENSP00000455997.2:n.*3606C>G
ENST00000642206.2:c.5104C>G	ENSP00000495146.2:p.Arg1702Gly
ENST00000642365.2:c.5254C>G	ENSP00000495459.2:p.Arg1752Gly
ENST00000644417.2:c.*5770C>G	ENSP00000493912.2:n.*5770C>G
ENST00000646464.2:c.*8006C>G	ENSP00000496610.2:n.*8006C>G
ENST00000219476.9:c.5257C>G MANE Select	ENSP00000219476.3:p.Arg1753Gly
ENST00000350773.9:c.5188C>G	ENSP00000344383.4:p.Arg1730Gly
ENST00000401874.7:c.5056C>G	ENSP00000384468.2:p.Arg1686Gly
ENST00000568454.6:c.5089C>G	ENSP00000454487.1:p.Arg1697Gly
ENST00000569110.2:c.1480C>G
ENST00000569930.2:n.3139C>G
ENST00000642365.1:c.3911C>G
ENST00000642561.1:c.5116C>G	ENSP00000495099.1:p.Arg1706Gly
ENST00000642791.1:n.854C>G
ENST00000642797.1:c.5059C>G	ENSP00000493846.1:p.Arg1687Gly
ENST00000642936.1:c.5125C>G	ENSP00000494514.1:p.Arg1709Gly
ENST00000643088.1:c.5050C>G	ENSP00000494747.1:p.Arg1684Gly
ENST00000643426.1:n.2905C>G
ENST00000643946.1:c.5182C>G	ENSP00000495927.1:p.Arg1728Gly
ENST00000644043.1:c.5128C>G	ENSP00000496262.1:p.Arg1710Gly
ENST00000644329.1:c.5143C>G	ENSP00000496611.1:p.Arg1715Gly
ENST00000644335.1:c.5053C>G	ENSP00000496317.1:p.Arg1685Gly
ENST00000644399.1:c.5178C>G
ENST00000645024.1:n.3341C>G
ENST00000646388.1:c.5251C>G	ENSP00000495921.1:p.Arg1751Gly
ENST00000646634.1:n.4072C>G
ENST00000646674.1:n.2509C>G
ENST00000647042.1:n.2480C>G
ENST00000647180.1:n.2370C>G
ENST00000219476.7:c.5257C>G	ENSP00000219476.3:p.Arg1753Gly
ENST00000350773.8:c.5188C>G	ENSP00000344383.4:p.Arg1730Gly
ENST00000382538.10:c.4912C>G	ENSP00000371978.6:p.Arg1638Gly
ENST00000401874.6:c.5056C>G	ENSP00000384468.2:p.Arg1686Gly
ENST00000439117.6:c.*4424C>G	ENSP00000406980.2:n.*4424C>G
ENST00000439673.6:c.4948C>G	ENSP00000399232.2:p.Arg1650Gly
ENST00000497886.5:n.2980C>G
ENST00000568454.5:c.5089C>G	ENSP00000454487.1:p.Arg1697Gly
ENST00000569110.1:c.1439C>G
ENST00000569930.1:n.2372C>G
NM_000548.3:c.5257C>G , LRG_487t1:c.5257C>G	NP_000539.2:p.Arg1753Gly
NM_001077183.1:c.5056C>G	NP_001070651.1:p.Arg1686Gly
NM_001114382.1:c.5188C>G	NP_001107854.1:p.Arg1730Gly
XM_005255529.3:c.5128C>G	XP_005255586.2:p.Arg1710Gly
XM_005255531.3:c.5059C>G	XP_005255588.2:p.Arg1687Gly
XM_011522636.1:c.5311C>G	XP_011520938.1:p.Arg1771Gly
XM_011522637.1:c.5308C>G	XP_011520939.1:p.Arg1770Gly
XM_011522638.1:c.5200C>G	XP_011520940.1:p.Arg1734Gly
XM_011522639.1:c.5182C>G	XP_011520941.1:p.Arg1728Gly
XM_011522640.1:c.5179C>G	XP_011520942.1:p.Arg1727Gly
XM_011522641.1:c.4948C>G	XP_011520943.1:p.Arg1650Gly
NM_000548.4:c.5257C>G	NP_000539.2:p.Arg1753Gly
NM_001077183.2:c.5056C>G	NP_001070651.1:p.Arg1686Gly
NM_001114382.2:c.5188C>G	NP_001107854.1:p.Arg1730Gly
NM_001318827.1:c.4948C>G	NP_001305756.1:p.Arg1650Gly
NM_001318829.1:c.4912C>G	NP_001305758.1:p.Arg1638Gly
NM_001318831.1:c.4525C>G	NP_001305760.1:p.Arg1509Gly
NM_001318832.1:c.5089C>G	NP_001305761.1:p.Arg1697Gly
NM_001363528.1:c.5059C>G	NP_001350457.1:p.Arg1687Gly
NM_021055.2:c.5128C>G	NP_066399.2:p.Arg1710Gly
XM_005255531.4:c.5059C>G	XP_005255588.2:p.Arg1687Gly
XM_011522636.2:c.5311C>G	XP_011520938.1:p.Arg1771Gly
XM_011522637.2:c.5308C>G	XP_011520939.1:p.Arg1770Gly
XM_011522638.2:c.5473C>G	XP_011520940.2:p.Arg1825Gly
XM_011522639.2:c.5182C>G	XP_011520941.1:p.Arg1728Gly
XM_011522640.2:c.5179C>G	XP_011520942.1:p.Arg1727Gly
XM_017023615.1:c.5254C>G	XP_016879104.1:p.Arg1752Gly
XM_017023616.1:c.5125C>G	XP_016879105.1:p.Arg1709Gly
XM_017023617.1:c.5221C>G	XP_016879106.1:p.Arg1741Gly
XM_017023618.1:c.3967C>G	XP_016879107.1:p.Arg1323Gly
XM_024450413.1:c.5143C>G	XP_024306181.1:p.Arg1715Gly
NM_000548.5:c.5257C>G MANE Select	NP_000539.2:p.Arg1753Gly
NM_001370404.1:c.5125C>G	NP_001357333.1:p.Arg1709Gly
NM_001370405.1:c.5116C>G	NP_001357334.1:p.Arg1706Gly
NM_001077183.3:c.5056C>G	NP_001070651.1:p.Arg1686Gly
NM_001114382.3:c.5188C>G	NP_001107854.1:p.Arg1730Gly
NM_001318827.2:c.4948C>G	NP_001305756.1:p.Arg1650Gly
NM_001318829.2:c.4912C>G	NP_001305758.1:p.Arg1638Gly
NM_001318831.2:c.4525C>G	NP_001305760.1:p.Arg1509Gly
NM_001318832.2:c.5089C>G	NP_001305761.1:p.Arg1697Gly
NM_001363528.2:c.5059C>G	NP_001350457.1:p.Arg1687Gly
NM_021055.3:c.5128C>G	NP_066399.2:p.Arg1710Gly