Canonical Allele Identifier: CA394315728

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2884748
• ClinVar RCV Id: RCV003626577
• MyVariant Identifiers: chr16:g.2138536G>T (hg19) ; chr16:g.2088535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088535G>T , CM000678.2:g.2088535G>T	GRCh38
NC_000016.9:g.2138536G>T , CM000678.1:g.2138536G>T	GRCh37
NC_000016.8:g.2078537G>T	NCBI36
NG_005895.1:g.44230G>T , LRG_487:g.44230G>T
NG_008617.1:g.54686C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3698G>T	ENSP00000455997.2:n.*3698G>T
ENST00000642206.2:c.5196G>T	ENSP00000495146.2:p.Glu1732Asp
ENST00000642365.2:c.5346G>T	ENSP00000495459.2:p.Glu1782Asp
ENST00000644417.2:c.*5862G>T	ENSP00000493912.2:n.*5862G>T
ENST00000646464.2:c.*8098G>T	ENSP00000496610.2:n.*8098G>T
ENST00000219476.9:c.5349G>T MANE Select	ENSP00000219476.3:p.Glu1783Asp
ENST00000350773.9:c.5280G>T	ENSP00000344383.4:p.Glu1760Asp
ENST00000401874.7:c.5148G>T	ENSP00000384468.2:p.Glu1716Asp
ENST00000568454.6:c.5181G>T	ENSP00000454487.1:p.Glu1727Asp
ENST00000569110.2:c.1572G>T
ENST00000569930.2:n.3231G>T
ENST00000642365.1:c.4003G>T
ENST00000642561.1:c.5208G>T	ENSP00000495099.1:p.Glu1736Asp
ENST00000642791.1:n.946G>T
ENST00000642797.1:c.5151G>T	ENSP00000493846.1:p.Glu1717Asp
ENST00000642936.1:c.5217G>T	ENSP00000494514.1:p.Glu1739Asp
ENST00000643088.1:c.5142G>T	ENSP00000494747.1:p.Glu1714Asp
ENST00000643426.1:n.2997G>T
ENST00000643946.1:c.5274G>T	ENSP00000495927.1:p.Glu1758Asp
ENST00000644043.1:c.5220G>T	ENSP00000496262.1:p.Glu1740Asp
ENST00000644329.1:c.5235G>T	ENSP00000496611.1:p.Glu1745Asp
ENST00000644335.1:c.5145G>T	ENSP00000496317.1:p.Glu1715Asp
ENST00000644399.1:c.5270G>T
ENST00000645024.1:n.3433G>T
ENST00000646388.1:c.5343G>T	ENSP00000495921.1:p.Glu1781Asp
ENST00000646634.1:n.4164G>T
ENST00000646674.1:n.2601G>T
ENST00000647042.1:n.2572G>T
ENST00000647180.1:n.2462G>T
ENST00000219476.7:c.5349G>T	ENSP00000219476.3:p.Glu1783Asp
ENST00000350773.8:c.5280G>T	ENSP00000344383.4:p.Glu1760Asp
ENST00000382538.10:c.5004G>T	ENSP00000371978.6:p.Glu1668Asp
ENST00000401874.6:c.5148G>T	ENSP00000384468.2:p.Glu1716Asp
ENST00000439117.6:c.*4516G>T	ENSP00000406980.2:n.*4516G>T
ENST00000439673.6:c.5040G>T	ENSP00000399232.2:p.Glu1680Asp
ENST00000497886.5:n.3072G>T
ENST00000568454.5:c.5181G>T	ENSP00000454487.1:p.Glu1727Asp
ENST00000569110.1:c.1531G>T
ENST00000569930.1:n.2464G>T
NM_000548.3:c.5349G>T , LRG_487t1:c.5349G>T	NP_000539.2:p.Glu1783Asp
NM_001077183.1:c.5148G>T	NP_001070651.1:p.Glu1716Asp
NM_001114382.1:c.5280G>T	NP_001107854.1:p.Glu1760Asp
XM_005255529.3:c.5220G>T	XP_005255586.2:p.Glu1740Asp
XM_005255531.3:c.5151G>T	XP_005255588.2:p.Glu1717Asp
XM_011522636.1:c.5403G>T	XP_011520938.1:p.Glu1801Asp
XM_011522637.1:c.5400G>T	XP_011520939.1:p.Glu1800Asp
XM_011522638.1:c.5292G>T	XP_011520940.1:p.Glu1764Asp
XM_011522639.1:c.5274G>T	XP_011520941.1:p.Glu1758Asp
XM_011522640.1:c.5271G>T	XP_011520942.1:p.Glu1757Asp
XM_011522641.1:c.5040G>T	XP_011520943.1:p.Glu1680Asp
NM_000548.4:c.5349G>T	NP_000539.2:p.Glu1783Asp
NM_001077183.2:c.5148G>T	NP_001070651.1:p.Glu1716Asp
NM_001114382.2:c.5280G>T	NP_001107854.1:p.Glu1760Asp
NM_001318827.1:c.5040G>T	NP_001305756.1:p.Glu1680Asp
NM_001318829.1:c.5004G>T	NP_001305758.1:p.Glu1668Asp
NM_001318831.1:c.4617G>T	NP_001305760.1:p.Glu1539Asp
NM_001318832.1:c.5181G>T	NP_001305761.1:p.Glu1727Asp
NM_001363528.1:c.5151G>T	NP_001350457.1:p.Glu1717Asp
NM_021055.2:c.5220G>T	NP_066399.2:p.Glu1740Asp
XM_005255531.4:c.5151G>T	XP_005255588.2:p.Glu1717Asp
XM_011522636.2:c.5403G>T	XP_011520938.1:p.Glu1801Asp
XM_011522637.2:c.5400G>T	XP_011520939.1:p.Glu1800Asp
XM_011522638.2:c.5565G>T	XP_011520940.2:p.Glu1855Asp
XM_011522639.2:c.5274G>T	XP_011520941.1:p.Glu1758Asp
XM_011522640.2:c.5271G>T	XP_011520942.1:p.Glu1757Asp
XM_017023615.1:c.5346G>T	XP_016879104.1:p.Glu1782Asp
XM_017023616.1:c.5217G>T	XP_016879105.1:p.Glu1739Asp
XM_017023617.1:c.5313G>T	XP_016879106.1:p.Glu1771Asp
XM_017023618.1:c.4059G>T	XP_016879107.1:p.Glu1353Asp
XM_024450413.1:c.5235G>T	XP_024306181.1:p.Glu1745Asp
NM_000548.5:c.5349G>T MANE Select	NP_000539.2:p.Glu1783Asp
NM_001370404.1:c.5217G>T	NP_001357333.1:p.Glu1739Asp
NM_001370405.1:c.5208G>T	NP_001357334.1:p.Glu1736Asp
NM_001077183.3:c.5148G>T	NP_001070651.1:p.Glu1716Asp
NM_001114382.3:c.5280G>T	NP_001107854.1:p.Glu1760Asp
NM_001318827.2:c.5040G>T	NP_001305756.1:p.Glu1680Asp
NM_001318829.2:c.5004G>T	NP_001305758.1:p.Glu1668Asp
NM_001318831.2:c.4617G>T	NP_001305760.1:p.Glu1539Asp
NM_001318832.2:c.5181G>T	NP_001305761.1:p.Glu1727Asp
NM_001363528.2:c.5151G>T	NP_001350457.1:p.Glu1717Asp
NM_021055.3:c.5220G>T	NP_066399.2:p.Glu1740Asp