Canonical Allele Identifier: CA394316267

Gene: TSC2

Linked Data

• ClinVar Variation Id: 825713
• ClinVar RCV Id: RCV001024067 ; RCV001223803
• dbSNP Id: rs982803529
• MyVariant Identifiers: chr16:g.2138602G>C (hg19) ; chr16:g.2088601G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088601G>C , CM000678.2:g.2088601G>C	GRCh38
NC_000016.9:g.2138602G>C , CM000678.1:g.2138602G>C	GRCh37
NC_000016.8:g.2078603G>C	NCBI36
NG_005895.1:g.44296G>C , LRG_487:g.44296G>C
NG_008617.1:g.54620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3764G>C	ENSP00000455997.2:n.*3764G>C
ENST00000642206.2:c.5262G>C	ENSP00000495146.2:p.Glu1754Asp
ENST00000642365.2:c.5412G>C	ENSP00000495459.2:p.Glu1804Asp
ENST00000644417.2:c.*5928G>C	ENSP00000493912.2:n.*5928G>C
ENST00000646464.2:c.*8164G>C	ENSP00000496610.2:n.*8164G>C
ENST00000219476.9:c.5415G>C MANE Select	ENSP00000219476.3:p.Glu1805Asp
ENST00000350773.9:c.5346G>C	ENSP00000344383.4:p.Glu1782Asp
ENST00000401874.7:c.5214G>C	ENSP00000384468.2:p.Glu1738Asp
ENST00000568454.6:c.5247G>C	ENSP00000454487.1:p.Glu1749Asp
ENST00000569110.2:c.1638G>C
ENST00000569930.2:n.3297G>C
ENST00000642365.1:c.4069G>C
ENST00000642561.1:c.5274G>C	ENSP00000495099.1:p.Glu1758Asp
ENST00000642791.1:n.1012G>C
ENST00000642797.1:c.5217G>C	ENSP00000493846.1:p.Glu1739Asp
ENST00000642936.1:c.5283G>C	ENSP00000494514.1:p.Glu1761Asp
ENST00000643088.1:c.5208G>C	ENSP00000494747.1:p.Glu1736Asp
ENST00000643426.1:n.3063G>C
ENST00000643946.1:c.5340G>C	ENSP00000495927.1:p.Glu1780Asp
ENST00000644043.1:c.5286G>C	ENSP00000496262.1:p.Glu1762Asp
ENST00000644329.1:c.5301G>C	ENSP00000496611.1:p.Glu1767Asp
ENST00000644335.1:c.5211G>C	ENSP00000496317.1:p.Glu1737Asp
ENST00000644399.1:c.5336G>C
ENST00000646388.1:c.5409G>C	ENSP00000495921.1:p.Glu1803Asp
ENST00000646634.1:n.4230G>C
ENST00000646674.1:n.2667G>C
ENST00000647042.1:n.2638G>C
ENST00000647180.1:n.2528G>C
ENST00000219476.7:c.5415G>C	ENSP00000219476.3:p.Glu1805Asp
ENST00000350773.8:c.5346G>C	ENSP00000344383.4:p.Glu1782Asp
ENST00000382538.10:c.5070G>C	ENSP00000371978.6:p.Glu1690Asp
ENST00000401874.6:c.5214G>C	ENSP00000384468.2:p.Glu1738Asp
ENST00000439117.6:c.*4582G>C	ENSP00000406980.2:n.*4582G>C
ENST00000439673.6:c.5106G>C	ENSP00000399232.2:p.Glu1702Asp
ENST00000497886.5:n.3138G>C
ENST00000568454.5:c.5247G>C	ENSP00000454487.1:p.Glu1749Asp
ENST00000569110.1:c.1597G>C
ENST00000569930.1:n.2530G>C
NM_000548.3:c.5415G>C , LRG_487t1:c.5415G>C	NP_000539.2:p.Glu1805Asp
NM_001077183.1:c.5214G>C	NP_001070651.1:p.Glu1738Asp
NM_001114382.1:c.5346G>C	NP_001107854.1:p.Glu1782Asp
XM_005255529.3:c.5286G>C	XP_005255586.2:p.Glu1762Asp
XM_005255531.3:c.5217G>C	XP_005255588.2:p.Glu1739Asp
XM_011522636.1:c.5469G>C	XP_011520938.1:p.Glu1823Asp
XM_011522637.1:c.5466G>C	XP_011520939.1:p.Glu1822Asp
XM_011522638.1:c.5358G>C	XP_011520940.1:p.Glu1786Asp
XM_011522639.1:c.5340G>C	XP_011520941.1:p.Glu1780Asp
XM_011522640.1:c.5337G>C	XP_011520942.1:p.Glu1779Asp
XM_011522641.1:c.5106G>C	XP_011520943.1:p.Glu1702Asp
NM_000548.4:c.5415G>C	NP_000539.2:p.Glu1805Asp
NM_001077183.2:c.5214G>C	NP_001070651.1:p.Glu1738Asp
NM_001114382.2:c.5346G>C	NP_001107854.1:p.Glu1782Asp
NM_001318827.1:c.5106G>C	NP_001305756.1:p.Glu1702Asp
NM_001318829.1:c.5070G>C	NP_001305758.1:p.Glu1690Asp
NM_001318831.1:c.4683G>C	NP_001305760.1:p.Glu1561Asp
NM_001318832.1:c.5247G>C	NP_001305761.1:p.Glu1749Asp
NM_001363528.1:c.5217G>C	NP_001350457.1:p.Glu1739Asp
NM_021055.2:c.5286G>C	NP_066399.2:p.Glu1762Asp
XM_005255531.4:c.5217G>C	XP_005255588.2:p.Glu1739Asp
XM_011522636.2:c.5469G>C	XP_011520938.1:p.Glu1823Asp
XM_011522637.2:c.5466G>C	XP_011520939.1:p.Glu1822Asp
XM_011522638.2:c.5631G>C	XP_011520940.2:p.Glu1877Asp
XM_011522639.2:c.5340G>C	XP_011520941.1:p.Glu1780Asp
XM_011522640.2:c.5337G>C	XP_011520942.1:p.Glu1779Asp
XM_017023615.1:c.5412G>C	XP_016879104.1:p.Glu1804Asp
XM_017023616.1:c.5283G>C	XP_016879105.1:p.Glu1761Asp
XM_017023617.1:c.5379G>C	XP_016879106.1:p.Glu1793Asp
XM_017023618.1:c.4125G>C	XP_016879107.1:p.Glu1375Asp
XM_024450413.1:c.5301G>C	XP_024306181.1:p.Glu1767Asp
NM_000548.5:c.5415G>C MANE Select	NP_000539.2:p.Glu1805Asp
NM_001370404.1:c.5283G>C	NP_001357333.1:p.Glu1761Asp
NM_001370405.1:c.5274G>C	NP_001357334.1:p.Glu1758Asp
NM_001077183.3:c.5214G>C	NP_001070651.1:p.Glu1738Asp
NM_001114382.3:c.5346G>C	NP_001107854.1:p.Glu1782Asp
NM_001318827.2:c.5106G>C	NP_001305756.1:p.Glu1702Asp
NM_001318829.2:c.5070G>C	NP_001305758.1:p.Glu1690Asp
NM_001318831.2:c.4683G>C	NP_001305760.1:p.Glu1561Asp
NM_001318832.2:c.5247G>C	NP_001305761.1:p.Glu1749Asp
NM_001363528.2:c.5217G>C	NP_001350457.1:p.Glu1739Asp
NM_021055.3:c.5286G>C	NP_066399.2:p.Glu1762Asp