Canonical Allele Identifier: CA020298

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65040
• ClinVar RCV Id: RCV000055246 ; RCV000817575
• dbSNP Id: rs397514939
• gnomAD v4: 16-2084567-T-TC
• MyVariant Identifiers: chr16:g.2134574dupC (hg19) ; chr16:g.2084573dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084573dup , CM000678.2:g.2084573dup	GRCh38
NC_000016.9:g.2134574dup , CM000678.1:g.2134574dup	GRCh37
NC_000016.8:g.2074575dup	NCBI36
NG_005895.1:g.40268dup , LRG_487:g.40268dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2700dup	ENSP00000455997.2:n.*2700dup
ENST00000642206.2:c.4198dup	ENSP00000495146.2:p.Arg1400ProfsTer?
ENST00000642365.2:c.4348dup	ENSP00000495459.2:p.Arg1450ProfsTer?
ENST00000644417.2:c.*4731dup	ENSP00000493912.2:n.*4731dup
ENST00000646464.2:c.*7100dup	ENSP00000496610.2:n.*7100dup
ENST00000219476.9:c.4351dup MANE Select	ENSP00000219476.3:p.Arg1451ProfsTer?
ENST00000350773.9:c.4282dup	ENSP00000344383.4:p.Arg1428ProfsTer?
ENST00000401874.7:c.4150dup	ENSP00000384468.2:p.Arg1384ProfsTer?
ENST00000568454.6:c.4183dup	ENSP00000454487.1:p.Arg1395ProfsTer?
ENST00000569110.2:c.587dup
ENST00000569930.2:n.2233dup
ENST00000642365.1:c.3005dup
ENST00000642561.1:c.4222dup	ENSP00000495099.1:p.Arg1408ProfsTer?
ENST00000642728.1:n.533dup
ENST00000642797.1:c.4153dup	ENSP00000493846.1:p.Arg1385ProfsTer?
ENST00000642936.1:c.4219dup	ENSP00000494514.1:p.Arg1407ProfsTer?
ENST00000643088.1:c.4150dup	ENSP00000494747.1:p.Arg1384ProfsTer?
ENST00000643177.1:n.365dup
ENST00000643426.1:n.1999dup
ENST00000643946.1:c.4282dup	ENSP00000495927.1:p.Arg1428ProfsTer?
ENST00000644043.1:c.4222dup	ENSP00000496262.1:p.Arg1408ProfsTer?
ENST00000644329.1:c.4150dup	ENSP00000496611.1:p.Arg1384ProfsTer?
ENST00000644335.1:c.4153dup	ENSP00000496317.1:p.Arg1385ProfsTer?
ENST00000644399.1:c.4272dup
ENST00000645024.1:n.2435dup
ENST00000646388.1:c.4351dup	ENSP00000495921.1:p.Arg1451ProfsTer?
ENST00000646634.1:n.3166dup
ENST00000646674.1:n.1603dup
ENST00000647042.1:n.1574dup
ENST00000647180.1:n.1464dup
ENST00000219476.7:c.4351dup	ENSP00000219476.3:p.Arg1451ProfsTer?
ENST00000350773.8:c.4282dup	ENSP00000344383.4:p.Arg1428ProfsTer?
ENST00000382538.10:c.4006dup	ENSP00000371978.6:p.Arg1336ProfsTer?
ENST00000401874.6:c.4150dup	ENSP00000384468.2:p.Arg1384ProfsTer?
ENST00000439117.6:c.*3518dup	ENSP00000406980.2:n.*3518dup
ENST00000439673.6:c.4042dup	ENSP00000399232.2:p.Arg1348ProfsTer?
ENST00000497886.5:n.2109dup
ENST00000568454.5:c.4183dup	ENSP00000454487.1:p.Arg1395ProfsTer?
ENST00000569110.1:c.533dup
ENST00000569930.1:n.1466dup
NM_000548.3:c.4351dup , LRG_487t1:c.4351dup	NP_000539.2:p.Arg1451ProfsTer?
NM_001077183.1:c.4150dup	NP_001070651.1:p.Arg1384ProfsTer?
NM_001114382.1:c.4282dup	NP_001107854.1:p.Arg1428ProfsTer?
XM_005255529.3:c.4222dup	XP_005255586.2:p.Arg1408ProfsTer?
XM_005255531.3:c.4153dup	XP_005255588.2:p.Arg1385ProfsTer?
XM_011522636.1:c.4405dup	XP_011520938.1:p.Arg1469ProfsTer?
XM_011522637.1:c.4402dup	XP_011520939.1:p.Arg1468ProfsTer?
XM_011522638.1:c.4294dup	XP_011520940.1:p.Arg1432ProfsTer?
XM_011522639.1:c.4276dup	XP_011520941.1:p.Arg1426ProfsTer?
XM_011522640.1:c.4273dup	XP_011520942.1:p.Arg1425ProfsTer?
XM_011522641.1:c.4042dup	XP_011520943.1:p.Arg1348ProfsTer?
NM_000548.4:c.4351dup	NP_000539.2:p.Arg1451ProfsTer?
NM_001077183.2:c.4150dup	NP_001070651.1:p.Arg1384ProfsTer?
NM_001114382.2:c.4282dup	NP_001107854.1:p.Arg1428ProfsTer?
NM_001318827.1:c.4042dup	NP_001305756.1:p.Arg1348ProfsTer?
NM_001318829.1:c.4006dup	NP_001305758.1:p.Arg1336ProfsTer?
NM_001318831.1:c.3619dup	NP_001305760.1:p.Arg1207ProfsTer?
NM_001318832.1:c.4183dup	NP_001305761.1:p.Arg1395ProfsTer?
NM_001363528.1:c.4153dup	NP_001350457.1:p.Arg1385ProfsTer?
NM_021055.2:c.4222dup	NP_066399.2:p.Arg1408ProfsTer?
XM_005255531.4:c.4153dup	XP_005255588.2:p.Arg1385ProfsTer?
XM_011522636.2:c.4405dup	XP_011520938.1:p.Arg1469ProfsTer?
XM_011522637.2:c.4402dup	XP_011520939.1:p.Arg1468ProfsTer?
XM_011522638.2:c.4567dup	XP_011520940.2:p.Arg1523ProfsTer?
XM_011522639.2:c.4276dup	XP_011520941.1:p.Arg1426ProfsTer?
XM_011522640.2:c.4273dup	XP_011520942.1:p.Arg1425ProfsTer?
XM_017023615.1:c.4348dup	XP_016879104.1:p.Arg1450ProfsTer?
XM_017023616.1:c.4219dup	XP_016879105.1:p.Arg1407ProfsTer?
XM_017023617.1:c.4315dup	XP_016879106.1:p.Arg1439ProfsTer?
XM_017023618.1:c.3061dup	XP_016879107.1:p.Arg1021ProfsTer?
XM_024450413.1:c.4150dup	XP_024306181.1:p.Arg1384ProfsTer?
NM_000548.5:c.4351dup MANE Select	NP_000539.2:p.Arg1451ProfsTer?
NM_001370404.1:c.4219dup	NP_001357333.1:p.Arg1407ProfsTer?
NM_001370405.1:c.4222dup	NP_001357334.1:p.Arg1408ProfsTer?
NM_001077183.3:c.4150dup	NP_001070651.1:p.Arg1384ProfsTer?
NM_001114382.3:c.4282dup	NP_001107854.1:p.Arg1428ProfsTer?
NM_001318827.2:c.4042dup	NP_001305756.1:p.Arg1348ProfsTer?
NM_001318829.2:c.4006dup	NP_001305758.1:p.Arg1336ProfsTer?
NM_001318831.2:c.3619dup	NP_001305760.1:p.Arg1207ProfsTer?
NM_001318832.2:c.4183dup	NP_001305761.1:p.Arg1395ProfsTer?
NM_001363528.2:c.4153dup	NP_001350457.1:p.Arg1385ProfsTer?
NM_021055.3:c.4222dup	NP_066399.2:p.Arg1408ProfsTer?