Canonical Allele Identifier: CA015048

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65362
• ClinVar RCV Id: RCV000055586
• dbSNP Id: rs397515272
• MyVariant Identifiers: chr16:g.2114375del (hg19) ; chr16:g.2064374del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064374del , CM000678.2:g.2064374del	GRCh38
NC_000016.9:g.2114375del , CM000678.1:g.2114375del	GRCh37
NC_000016.8:g.2054376del	NCBI36
NG_005895.1:g.20069del , LRG_487:g.20069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*93del	ENSP00000455997.2:n.*93del
ENST00000642206.2:c.1591del	ENSP00000495146.2:p.Ala531GlnfsTer19
ENST00000642365.2:c.1546del	ENSP00000495459.2:p.Ala516GlnfsTer19
ENST00000644417.2:c.*983del	ENSP00000493912.2:n.*983del
ENST00000646464.2:c.*1151del	ENSP00000496610.2:n.*1151del
ENST00000219476.9:c.1546del MANE Select	ENSP00000219476.3:p.Ala516GlnfsTer19
ENST00000350773.9:c.1546del	ENSP00000344383.4:p.Ala516GlnfsTer19
ENST00000401874.7:c.1546del	ENSP00000384468.2:p.Ala516GlnfsTer19
ENST00000463601.2:n.1674del
ENST00000568454.6:c.1579del	ENSP00000454487.1:p.Ala527GlnfsTer19
ENST00000642365.1:c.203del
ENST00000642561.1:c.1546del	ENSP00000495099.1:p.Ala516GlnfsTer19
ENST00000642797.1:c.1546del	ENSP00000493846.1:p.Ala516GlnfsTer19
ENST00000642812.1:n.1591del
ENST00000642936.1:c.1546del	ENSP00000494514.1:p.Ala516GlnfsTer19
ENST00000643088.1:c.1546del	ENSP00000494747.1:p.Ala516GlnfsTer19
ENST00000643149.1:n.3556del
ENST00000643298.1:c.*1048del	ENSP00000494393.1:n.*1048del
ENST00000643745.1:c.*478del	ENSP00000495948.1:n.*478del
ENST00000643946.1:c.1546del	ENSP00000495927.1:p.Ala516GlnfsTer19
ENST00000644043.1:c.1546del	ENSP00000496262.1:p.Ala516GlnfsTer19
ENST00000644135.1:c.1546del	ENSP00000495644.1:p.Ala516GlnfsTer19
ENST00000644222.1:n.1633del
ENST00000644329.1:c.1546del	ENSP00000496611.1:p.Ala516GlnfsTer19
ENST00000644335.1:c.1546del	ENSP00000496317.1:p.Ala516GlnfsTer19
ENST00000644399.1:c.1539del
ENST00000644665.1:n.2720del
ENST00000644847.1:n.538del
ENST00000645591.1:n.2604del
ENST00000646388.1:c.1546del	ENSP00000495921.1:p.Ala516GlnfsTer19
ENST00000646634.1:n.559del
ENST00000647234.1:n.3304del
ENST00000647242.1:n.2182del
ENST00000219476.7:c.1546del	ENSP00000219476.3:p.Ala516GlnfsTer19
ENST00000350773.8:c.1546del	ENSP00000344383.4:p.Ala516GlnfsTer19
ENST00000382538.10:c.1399del	ENSP00000371978.6:p.Ala467GlnfsTer19
ENST00000401874.6:c.1546del	ENSP00000384468.2:p.Ala516GlnfsTer19
ENST00000439117.6:c.*845del	ENSP00000406980.2:n.*845del
ENST00000439673.6:c.1435del	ENSP00000399232.2:p.Ala479GlnfsTer19
ENST00000490108.1:n.319del
ENST00000568238.1:n.304del
ENST00000568454.5:c.1579del	ENSP00000454487.1:p.Ala527GlnfsTer19
ENST00000568566.5:c.186del	ENSP00000455997.1:n.186del
NM_000548.3:c.1546del , LRG_487t1:c.1546del	NP_000539.2:p.Ala516GlnfsTer19
NM_001077183.1:c.1546del	NP_001070651.1:p.Ala516GlnfsTer19
NM_001114382.1:c.1546del	NP_001107854.1:p.Ala516GlnfsTer19
XM_005255529.3:c.1546del	XP_005255586.2:p.Ala516GlnfsTer19
XM_005255531.3:c.1546del	XP_005255588.2:p.Ala516GlnfsTer19
XM_011522636.1:c.1546del	XP_011520938.1:p.Ala516GlnfsTer19
XM_011522637.1:c.1546del	XP_011520939.1:p.Ala516GlnfsTer19
XM_011522638.1:c.1435del	XP_011520940.1:p.Ala479GlnfsTer19
XM_011522639.1:c.1546del	XP_011520941.1:p.Ala516GlnfsTer19
XM_011522640.1:c.1546del	XP_011520942.1:p.Ala516GlnfsTer19
XM_011522641.1:c.1435del	XP_011520943.1:p.Ala479GlnfsTer19
NM_000548.4:c.1546del	NP_000539.2:p.Ala516GlnfsTer19
NM_001077183.2:c.1546del	NP_001070651.1:p.Ala516GlnfsTer19
NM_001114382.2:c.1546del	NP_001107854.1:p.Ala516GlnfsTer19
NM_001318827.1:c.1435del	NP_001305756.1:p.Ala479GlnfsTer19
NM_001318829.1:c.1399del	NP_001305758.1:p.Ala467GlnfsTer19
NM_001318831.1:c.946del	NP_001305760.1:p.Ala316GlnfsTer19
NM_001318832.1:c.1579del	NP_001305761.1:p.Ala527GlnfsTer19
NM_001363528.1:c.1546del	NP_001350457.1:p.Ala516GlnfsTer19
NM_021055.2:c.1546del	NP_066399.2:p.Ala516GlnfsTer19
XM_005255531.4:c.1546del	XP_005255588.2:p.Ala516GlnfsTer19
XM_011522636.2:c.1546del	XP_011520938.1:p.Ala516GlnfsTer19
XM_011522637.2:c.1546del	XP_011520939.1:p.Ala516GlnfsTer19
XM_011522638.2:c.1708del	XP_011520940.2:p.Ala570GlnfsTer19
XM_011522639.2:c.1546del	XP_011520941.1:p.Ala516GlnfsTer19
XM_011522640.2:c.1546del	XP_011520942.1:p.Ala516GlnfsTer19
XM_017023615.1:c.1546del	XP_016879104.1:p.Ala516GlnfsTer19
XM_017023616.1:c.1546del	XP_016879105.1:p.Ala516GlnfsTer19
XM_017023617.1:c.1708del	XP_016879106.1:p.Ala570GlnfsTer19
XM_017023618.1:c.202del	XP_016879107.1:p.Ala68GlnfsTer19
XM_024450413.1:c.1546del	XP_024306181.1:p.Ala516GlnfsTer19
NM_000548.5:c.1546del MANE Select	NP_000539.2:p.Ala516GlnfsTer19
NM_001370404.1:c.1546del	NP_001357333.1:p.Ala516GlnfsTer19
NM_001370405.1:c.1546del	NP_001357334.1:p.Ala516GlnfsTer19
NM_001077183.3:c.1546del	NP_001070651.1:p.Ala516GlnfsTer19
NM_001114382.3:c.1546del	NP_001107854.1:p.Ala516GlnfsTer19
NM_001318827.2:c.1435del	NP_001305756.1:p.Ala479GlnfsTer19
NM_001318829.2:c.1399del	NP_001305758.1:p.Ala467GlnfsTer19
NM_001318831.2:c.946del	NP_001305760.1:p.Ala316GlnfsTer19
NM_001318832.2:c.1579del	NP_001305761.1:p.Ala527GlnfsTer19
NM_001363528.2:c.1546del	NP_001350457.1:p.Ala516GlnfsTer19
NM_021055.3:c.1546del	NP_066399.2:p.Ala516GlnfsTer19