Canonical Allele Identifier: CA16615209

Gene: TSC2

Linked Data

• ClinVar Variation Id: 405970
• ClinVar RCV Id: RCV000465811 ; RCV002348292
• dbSNP Id: rs1060500918
• MyVariant Identifiers: chr16:g.2138590G>T (hg19) ; chr16:g.2088589G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088589G>T , CM000678.2:g.2088589G>T	GRCh38
NC_000016.9:g.2138590G>T , CM000678.1:g.2138590G>T	GRCh37
NC_000016.8:g.2078591G>T	NCBI36
NG_005895.1:g.44284G>T , LRG_487:g.44284G>T
NG_008617.1:g.54632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3752G>T	ENSP00000455997.2:n.*3752G>T
ENST00000642206.2:c.5250G>T	ENSP00000495146.2:p.Glu1750Asp
ENST00000642365.2:c.5400G>T	ENSP00000495459.2:p.Glu1800Asp
ENST00000644417.2:c.*5916G>T	ENSP00000493912.2:n.*5916G>T
ENST00000646464.2:c.*8152G>T	ENSP00000496610.2:n.*8152G>T
ENST00000219476.9:c.5403G>T MANE Select	ENSP00000219476.3:p.Glu1801Asp
ENST00000350773.9:c.5334G>T	ENSP00000344383.4:p.Glu1778Asp
ENST00000401874.7:c.5202G>T	ENSP00000384468.2:p.Glu1734Asp
ENST00000568454.6:c.5235G>T	ENSP00000454487.1:p.Glu1745Asp
ENST00000569110.2:c.1626G>T
ENST00000569930.2:n.3285G>T
ENST00000642365.1:c.4057G>T
ENST00000642561.1:c.5262G>T	ENSP00000495099.1:p.Glu1754Asp
ENST00000642791.1:n.1000G>T
ENST00000642797.1:c.5205G>T	ENSP00000493846.1:p.Glu1735Asp
ENST00000642936.1:c.5271G>T	ENSP00000494514.1:p.Glu1757Asp
ENST00000643088.1:c.5196G>T	ENSP00000494747.1:p.Glu1732Asp
ENST00000643426.1:n.3051G>T
ENST00000643946.1:c.5328G>T	ENSP00000495927.1:p.Glu1776Asp
ENST00000644043.1:c.5274G>T	ENSP00000496262.1:p.Glu1758Asp
ENST00000644329.1:c.5289G>T	ENSP00000496611.1:p.Glu1763Asp
ENST00000644335.1:c.5199G>T	ENSP00000496317.1:p.Glu1733Asp
ENST00000644399.1:c.5324G>T
ENST00000646388.1:c.5397G>T	ENSP00000495921.1:p.Glu1799Asp
ENST00000646634.1:n.4218G>T
ENST00000646674.1:n.2655G>T
ENST00000647042.1:n.2626G>T
ENST00000647180.1:n.2516G>T
ENST00000219476.7:c.5403G>T	ENSP00000219476.3:p.Glu1801Asp
ENST00000350773.8:c.5334G>T	ENSP00000344383.4:p.Glu1778Asp
ENST00000382538.10:c.5058G>T	ENSP00000371978.6:p.Glu1686Asp
ENST00000401874.6:c.5202G>T	ENSP00000384468.2:p.Glu1734Asp
ENST00000439117.6:c.*4570G>T	ENSP00000406980.2:n.*4570G>T
ENST00000439673.6:c.5094G>T	ENSP00000399232.2:p.Glu1698Asp
ENST00000497886.5:n.3126G>T
ENST00000568454.5:c.5235G>T	ENSP00000454487.1:p.Glu1745Asp
ENST00000569110.1:c.1585G>T
ENST00000569930.1:n.2518G>T
NM_000548.3:c.5403G>T , LRG_487t1:c.5403G>T	NP_000539.2:p.Glu1801Asp
NM_001077183.1:c.5202G>T	NP_001070651.1:p.Glu1734Asp
NM_001114382.1:c.5334G>T	NP_001107854.1:p.Glu1778Asp
XM_005255529.3:c.5274G>T	XP_005255586.2:p.Glu1758Asp
XM_005255531.3:c.5205G>T	XP_005255588.2:p.Glu1735Asp
XM_011522636.1:c.5457G>T	XP_011520938.1:p.Glu1819Asp
XM_011522637.1:c.5454G>T	XP_011520939.1:p.Glu1818Asp
XM_011522638.1:c.5346G>T	XP_011520940.1:p.Glu1782Asp
XM_011522639.1:c.5328G>T	XP_011520941.1:p.Glu1776Asp
XM_011522640.1:c.5325G>T	XP_011520942.1:p.Glu1775Asp
XM_011522641.1:c.5094G>T	XP_011520943.1:p.Glu1698Asp
NM_000548.4:c.5403G>T	NP_000539.2:p.Glu1801Asp
NM_001077183.2:c.5202G>T	NP_001070651.1:p.Glu1734Asp
NM_001114382.2:c.5334G>T	NP_001107854.1:p.Glu1778Asp
NM_001318827.1:c.5094G>T	NP_001305756.1:p.Glu1698Asp
NM_001318829.1:c.5058G>T	NP_001305758.1:p.Glu1686Asp
NM_001318831.1:c.4671G>T	NP_001305760.1:p.Glu1557Asp
NM_001318832.1:c.5235G>T	NP_001305761.1:p.Glu1745Asp
NM_001363528.1:c.5205G>T	NP_001350457.1:p.Glu1735Asp
NM_021055.2:c.5274G>T	NP_066399.2:p.Glu1758Asp
XM_005255531.4:c.5205G>T	XP_005255588.2:p.Glu1735Asp
XM_011522636.2:c.5457G>T	XP_011520938.1:p.Glu1819Asp
XM_011522637.2:c.5454G>T	XP_011520939.1:p.Glu1818Asp
XM_011522638.2:c.5619G>T	XP_011520940.2:p.Glu1873Asp
XM_011522639.2:c.5328G>T	XP_011520941.1:p.Glu1776Asp
XM_011522640.2:c.5325G>T	XP_011520942.1:p.Glu1775Asp
XM_017023615.1:c.5400G>T	XP_016879104.1:p.Glu1800Asp
XM_017023616.1:c.5271G>T	XP_016879105.1:p.Glu1757Asp
XM_017023617.1:c.5367G>T	XP_016879106.1:p.Glu1789Asp
XM_017023618.1:c.4113G>T	XP_016879107.1:p.Glu1371Asp
XM_024450413.1:c.5289G>T	XP_024306181.1:p.Glu1763Asp
NM_000548.5:c.5403G>T MANE Select	NP_000539.2:p.Glu1801Asp
NM_001370404.1:c.5271G>T	NP_001357333.1:p.Glu1757Asp
NM_001370405.1:c.5262G>T	NP_001357334.1:p.Glu1754Asp
NM_001077183.3:c.5202G>T	NP_001070651.1:p.Glu1734Asp
NM_001114382.3:c.5334G>T	NP_001107854.1:p.Glu1778Asp
NM_001318827.2:c.5094G>T	NP_001305756.1:p.Glu1698Asp
NM_001318829.2:c.5058G>T	NP_001305758.1:p.Glu1686Asp
NM_001318831.2:c.4671G>T	NP_001305760.1:p.Glu1557Asp
NM_001318832.2:c.5235G>T	NP_001305761.1:p.Glu1745Asp
NM_001363528.2:c.5205G>T	NP_001350457.1:p.Glu1735Asp
NM_021055.3:c.5274G>T	NP_066399.2:p.Glu1758Asp