Canonical Allele Identifier: CA1139664300

Gene: TSC2

Linked Data

• ClinVar Variation Id: 930794
• ClinVar RCV Id: RCV001196711
• dbSNP Id: rs2087032456

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064411dup , CM000678.2:g.2064411dup	GRCh38
NC_000016.9:g.2114412dup , CM000678.1:g.2114412dup	GRCh37
NC_000016.8:g.2054413dup	NCBI36
NG_005895.1:g.20106dup , LRG_487:g.20106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*130dup	ENSP00000455997.2:n.*130dup
ENST00000642206.2:c.1628dup	ENSP00000495146.2:p.Asp544GlyfsTer?
ENST00000642365.2:c.1583dup	ENSP00000495459.2:p.Asp529GlyfsTer?
ENST00000644417.2:c.*1020dup	ENSP00000493912.2:n.*1020dup
ENST00000646464.2:c.*1188dup	ENSP00000496610.2:n.*1188dup
ENST00000219476.9:c.1583dup MANE Select	ENSP00000219476.3:p.Asp529GlyfsTer?
ENST00000350773.9:c.1583dup	ENSP00000344383.4:p.Asp529GlyfsTer?
ENST00000401874.7:c.1583dup	ENSP00000384468.2:p.Asp529GlyfsTer?
ENST00000463601.2:n.1711dup
ENST00000568454.6:c.1616dup	ENSP00000454487.1:p.Asp540GlyfsTer?
ENST00000642365.1:c.240dup
ENST00000642561.1:c.1583dup	ENSP00000495099.1:p.Asp529GlyfsTer?
ENST00000642797.1:c.1583dup	ENSP00000493846.1:p.Asp529GlyfsTer?
ENST00000642812.1:n.1628dup
ENST00000642936.1:c.1583dup	ENSP00000494514.1:p.Asp529GlyfsTer?
ENST00000643088.1:c.1583dup	ENSP00000494747.1:p.Asp529GlyfsTer?
ENST00000643149.1:n.3593dup
ENST00000643298.1:c.*1085dup	ENSP00000494393.1:n.*1085dup
ENST00000643745.1:c.*515dup	ENSP00000495948.1:n.*515dup
ENST00000643946.1:c.1583dup	ENSP00000495927.1:p.Asp529GlyfsTer?
ENST00000644043.1:c.1583dup	ENSP00000496262.1:p.Asp529GlyfsTer?
ENST00000644135.1:c.1583dup	ENSP00000495644.1:p.Asp529GlyfsTer?
ENST00000644222.1:n.1670dup
ENST00000644329.1:c.1583dup	ENSP00000496611.1:p.Asp529GlyfsTer?
ENST00000644335.1:c.1583dup	ENSP00000496317.1:p.Asp529GlyfsTer?
ENST00000644399.1:c.1576dup
ENST00000644665.1:n.2757dup
ENST00000644847.1:n.575dup
ENST00000645591.1:n.2641dup
ENST00000646388.1:c.1583dup	ENSP00000495921.1:p.Asp529GlyfsTer?
ENST00000646634.1:n.596dup
ENST00000647234.1:n.3341dup
ENST00000647242.1:n.2219dup
ENST00000219476.7:c.1583dup	ENSP00000219476.3:p.Asp529GlyfsTer?
ENST00000350773.8:c.1583dup	ENSP00000344383.4:p.Asp529GlyfsTer?
ENST00000382538.10:c.1436dup	ENSP00000371978.6:p.Asp480GlyfsTer?
ENST00000401874.6:c.1583dup	ENSP00000384468.2:p.Asp529GlyfsTer?
ENST00000439117.6:c.*882dup	ENSP00000406980.2:n.*882dup
ENST00000439673.6:c.1472dup	ENSP00000399232.2:p.Asp492GlyfsTer?
ENST00000490108.1:n.356dup
ENST00000568238.1:n.341dup
ENST00000568454.5:c.1616dup	ENSP00000454487.1:p.Asp540GlyfsTer?
ENST00000568566.5:c.223dup	ENSP00000455997.1:n.223dup
NM_000548.3:c.1583dup , LRG_487t1:c.1583dup	NP_000539.2:p.Asp529GlyfsTer?
NM_001077183.1:c.1583dup	NP_001070651.1:p.Asp529GlyfsTer?
NM_001114382.1:c.1583dup	NP_001107854.1:p.Asp529GlyfsTer?
XM_005255529.3:c.1583dup	XP_005255586.2:p.Asp529GlyfsTer?
XM_005255531.3:c.1583dup	XP_005255588.2:p.Asp529GlyfsTer?
XM_011522636.1:c.1583dup	XP_011520938.1:p.Asp529GlyfsTer?
XM_011522637.1:c.1583dup	XP_011520939.1:p.Asp529GlyfsTer?
XM_011522638.1:c.1472dup	XP_011520940.1:p.Asp492GlyfsTer?
XM_011522639.1:c.1583dup	XP_011520941.1:p.Asp529GlyfsTer?
XM_011522640.1:c.1583dup	XP_011520942.1:p.Asp529GlyfsTer?
XM_011522641.1:c.1472dup	XP_011520943.1:p.Asp492GlyfsTer?
NM_000548.4:c.1583dup	NP_000539.2:p.Asp529GlyfsTer?
NM_001077183.2:c.1583dup	NP_001070651.1:p.Asp529GlyfsTer?
NM_001114382.2:c.1583dup	NP_001107854.1:p.Asp529GlyfsTer?
NM_001318827.1:c.1472dup	NP_001305756.1:p.Asp492GlyfsTer?
NM_001318829.1:c.1436dup	NP_001305758.1:p.Asp480GlyfsTer?
NM_001318831.1:c.983dup	NP_001305760.1:p.Asp329GlyfsTer?
NM_001318832.1:c.1616dup	NP_001305761.1:p.Asp540GlyfsTer?
NM_001363528.1:c.1583dup	NP_001350457.1:p.Asp529GlyfsTer?
NM_021055.2:c.1583dup	NP_066399.2:p.Asp529GlyfsTer?
XM_005255531.4:c.1583dup	XP_005255588.2:p.Asp529GlyfsTer?
XM_011522636.2:c.1583dup	XP_011520938.1:p.Asp529GlyfsTer?
XM_011522637.2:c.1583dup	XP_011520939.1:p.Asp529GlyfsTer?
XM_011522638.2:c.1745dup	XP_011520940.2:p.Asp583GlyfsTer?
XM_011522639.2:c.1583dup	XP_011520941.1:p.Asp529GlyfsTer?
XM_011522640.2:c.1583dup	XP_011520942.1:p.Asp529GlyfsTer?
XM_017023615.1:c.1583dup	XP_016879104.1:p.Asp529GlyfsTer?
XM_017023616.1:c.1583dup	XP_016879105.1:p.Asp529GlyfsTer?
XM_017023617.1:c.1745dup	XP_016879106.1:p.Asp583GlyfsTer?
XM_017023618.1:c.239dup	XP_016879107.1:p.Asp81GlyfsTer?
XM_024450413.1:c.1583dup	XP_024306181.1:p.Asp529GlyfsTer?
NM_000548.5:c.1583dup MANE Select	NP_000539.2:p.Asp529GlyfsTer?
NM_001370404.1:c.1583dup	NP_001357333.1:p.Asp529GlyfsTer?
NM_001370405.1:c.1583dup	NP_001357334.1:p.Asp529GlyfsTer?
NM_001077183.3:c.1583dup	NP_001070651.1:p.Asp529GlyfsTer?
NM_001114382.3:c.1583dup	NP_001107854.1:p.Asp529GlyfsTer?
NM_001318827.2:c.1472dup	NP_001305756.1:p.Asp492GlyfsTer?
NM_001318829.2:c.1436dup	NP_001305758.1:p.Asp480GlyfsTer?
NM_001318831.2:c.983dup	NP_001305760.1:p.Asp329GlyfsTer?
NM_001318832.2:c.1616dup	NP_001305761.1:p.Asp540GlyfsTer?
NM_001363528.2:c.1583dup	NP_001350457.1:p.Asp529GlyfsTer?
NM_021055.3:c.1583dup	NP_066399.2:p.Asp529GlyfsTer?