Canonical Allele Identifier: CA394326573

Gene: TSC2

Linked Data

• ClinVar Variation Id: 486677
• ClinVar RCV Id: RCV000568121 ; RCV001859981
• dbSNP Id: rs397515147
• MyVariant Identifiers: chr16:g.2114394A>G (hg19) ; chr16:g.2064393A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064393A>G , CM000678.2:g.2064393A>G	GRCh38
NC_000016.9:g.2114394A>G , CM000678.1:g.2114394A>G	GRCh37
NC_000016.8:g.2054395A>G	NCBI36
NG_005895.1:g.20088A>G , LRG_487:g.20088A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*112A>G	ENSP00000455997.2:n.*112A>G
ENST00000642206.2:c.1610A>G	ENSP00000495146.2:p.His537Arg
ENST00000642365.2:c.1565A>G	ENSP00000495459.2:p.His522Arg
ENST00000644417.2:c.*1002A>G	ENSP00000493912.2:n.*1002A>G
ENST00000646464.2:c.*1170A>G	ENSP00000496610.2:n.*1170A>G
ENST00000219476.9:c.1565A>G MANE Select	ENSP00000219476.3:p.His522Arg
ENST00000350773.9:c.1565A>G	ENSP00000344383.4:p.His522Arg
ENST00000401874.7:c.1565A>G	ENSP00000384468.2:p.His522Arg
ENST00000463601.2:n.1693A>G
ENST00000568454.6:c.1598A>G	ENSP00000454487.1:p.His533Arg
ENST00000642365.1:c.222A>G
ENST00000642561.1:c.1565A>G	ENSP00000495099.1:p.His522Arg
ENST00000642797.1:c.1565A>G	ENSP00000493846.1:p.His522Arg
ENST00000642812.1:n.1610A>G
ENST00000642936.1:c.1565A>G	ENSP00000494514.1:p.His522Arg
ENST00000643088.1:c.1565A>G	ENSP00000494747.1:p.His522Arg
ENST00000643149.1:n.3575A>G
ENST00000643298.1:c.*1067A>G	ENSP00000494393.1:n.*1067A>G
ENST00000643745.1:c.*497A>G	ENSP00000495948.1:n.*497A>G
ENST00000643946.1:c.1565A>G	ENSP00000495927.1:p.His522Arg
ENST00000644043.1:c.1565A>G	ENSP00000496262.1:p.His522Arg
ENST00000644135.1:c.1565A>G	ENSP00000495644.1:p.His522Arg
ENST00000644222.1:n.1652A>G
ENST00000644329.1:c.1565A>G	ENSP00000496611.1:p.His522Arg
ENST00000644335.1:c.1565A>G	ENSP00000496317.1:p.His522Arg
ENST00000644399.1:c.1558A>G
ENST00000644665.1:n.2739A>G
ENST00000644847.1:n.557A>G
ENST00000645591.1:n.2623A>G
ENST00000646388.1:c.1565A>G	ENSP00000495921.1:p.His522Arg
ENST00000646634.1:n.578A>G
ENST00000647234.1:n.3323A>G
ENST00000647242.1:n.2201A>G
ENST00000219476.7:c.1565A>G	ENSP00000219476.3:p.His522Arg
ENST00000350773.8:c.1565A>G	ENSP00000344383.4:p.His522Arg
ENST00000382538.10:c.1418A>G	ENSP00000371978.6:p.His473Arg
ENST00000401874.6:c.1565A>G	ENSP00000384468.2:p.His522Arg
ENST00000439117.6:c.*864A>G	ENSP00000406980.2:n.*864A>G
ENST00000439673.6:c.1454A>G	ENSP00000399232.2:p.His485Arg
ENST00000490108.1:n.338A>G
ENST00000568238.1:n.323A>G
ENST00000568454.5:c.1598A>G	ENSP00000454487.1:p.His533Arg
ENST00000568566.5:c.205A>G	ENSP00000455997.1:n.205A>G
NM_000548.3:c.1565A>G , LRG_487t1:c.1565A>G	NP_000539.2:p.His522Arg
NM_001077183.1:c.1565A>G	NP_001070651.1:p.His522Arg
NM_001114382.1:c.1565A>G	NP_001107854.1:p.His522Arg
XM_005255529.3:c.1565A>G	XP_005255586.2:p.His522Arg
XM_005255531.3:c.1565A>G	XP_005255588.2:p.His522Arg
XM_011522636.1:c.1565A>G	XP_011520938.1:p.His522Arg
XM_011522637.1:c.1565A>G	XP_011520939.1:p.His522Arg
XM_011522638.1:c.1454A>G	XP_011520940.1:p.His485Arg
XM_011522639.1:c.1565A>G	XP_011520941.1:p.His522Arg
XM_011522640.1:c.1565A>G	XP_011520942.1:p.His522Arg
XM_011522641.1:c.1454A>G	XP_011520943.1:p.His485Arg
NM_000548.4:c.1565A>G	NP_000539.2:p.His522Arg
NM_001077183.2:c.1565A>G	NP_001070651.1:p.His522Arg
NM_001114382.2:c.1565A>G	NP_001107854.1:p.His522Arg
NM_001318827.1:c.1454A>G	NP_001305756.1:p.His485Arg
NM_001318829.1:c.1418A>G	NP_001305758.1:p.His473Arg
NM_001318831.1:c.965A>G	NP_001305760.1:p.His322Arg
NM_001318832.1:c.1598A>G	NP_001305761.1:p.His533Arg
NM_001363528.1:c.1565A>G	NP_001350457.1:p.His522Arg
NM_021055.2:c.1565A>G	NP_066399.2:p.His522Arg
XM_005255531.4:c.1565A>G	XP_005255588.2:p.His522Arg
XM_011522636.2:c.1565A>G	XP_011520938.1:p.His522Arg
XM_011522637.2:c.1565A>G	XP_011520939.1:p.His522Arg
XM_011522638.2:c.1727A>G	XP_011520940.2:p.His576Arg
XM_011522639.2:c.1565A>G	XP_011520941.1:p.His522Arg
XM_011522640.2:c.1565A>G	XP_011520942.1:p.His522Arg
XM_017023615.1:c.1565A>G	XP_016879104.1:p.His522Arg
XM_017023616.1:c.1565A>G	XP_016879105.1:p.His522Arg
XM_017023617.1:c.1727A>G	XP_016879106.1:p.His576Arg
XM_017023618.1:c.221A>G	XP_016879107.1:p.His74Arg
XM_024450413.1:c.1565A>G	XP_024306181.1:p.His522Arg
NM_000548.5:c.1565A>G MANE Select	NP_000539.2:p.His522Arg
NM_001370404.1:c.1565A>G	NP_001357333.1:p.His522Arg
NM_001370405.1:c.1565A>G	NP_001357334.1:p.His522Arg
NM_001077183.3:c.1565A>G	NP_001070651.1:p.His522Arg
NM_001114382.3:c.1565A>G	NP_001107854.1:p.His522Arg
NM_001318827.2:c.1454A>G	NP_001305756.1:p.His485Arg
NM_001318829.2:c.1418A>G	NP_001305758.1:p.His473Arg
NM_001318831.2:c.965A>G	NP_001305760.1:p.His322Arg
NM_001318832.2:c.1598A>G	NP_001305761.1:p.His533Arg
NM_001363528.2:c.1565A>G	NP_001350457.1:p.His522Arg
NM_021055.3:c.1565A>G	NP_066399.2:p.His522Arg