Canonical Allele Identifier: CA020722

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49838
• ClinVar RCV Id: RCV000043104
• dbSNP Id: rs137854329
• MyVariant Identifiers: chr16:g.2135242dupT (hg19) ; chr16:g.2085241dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085241dup , CM000678.2:g.2085241dup	GRCh38
NC_000016.9:g.2135242dup , CM000678.1:g.2135242dup	GRCh37
NC_000016.8:g.2075243dup	NCBI36
NG_005895.1:g.40936dup , LRG_487:g.40936dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2930dup	ENSP00000455997.2:n.*2930dup
ENST00000642206.2:c.4428dup	ENSP00000495146.2:p.Glu1477Ter
ENST00000642365.2:c.4578dup	ENSP00000495459.2:p.Glu1527Ter
ENST00000644417.2:c.*4961dup	ENSP00000493912.2:n.*4961dup
ENST00000646464.2:c.*7330dup	ENSP00000496610.2:n.*7330dup
ENST00000219476.9:c.4581dup MANE Select	ENSP00000219476.3:p.Glu1528Ter
ENST00000350773.9:c.4512dup	ENSP00000344383.4:p.Glu1505Ter
ENST00000401874.7:c.4380dup	ENSP00000384468.2:p.Glu1461Ter
ENST00000568454.6:c.4413dup	ENSP00000454487.1:p.Glu1472Ter
ENST00000569110.2:c.804dup
ENST00000569930.2:n.2463dup
ENST00000642365.1:c.3235dup
ENST00000642561.1:c.4452dup	ENSP00000495099.1:p.Glu1485Ter
ENST00000642728.1:n.763dup
ENST00000642791.1:n.178dup
ENST00000642797.1:c.4383dup	ENSP00000493846.1:p.Glu1462Ter
ENST00000642936.1:c.4449dup	ENSP00000494514.1:p.Glu1484Ter
ENST00000643088.1:c.4374dup	ENSP00000494747.1:p.Glu1459Ter
ENST00000643177.1:n.595dup
ENST00000643426.1:n.2229dup
ENST00000643946.1:c.4506dup	ENSP00000495927.1:p.Glu1503Ter
ENST00000644043.1:c.4452dup	ENSP00000496262.1:p.Glu1485Ter
ENST00000644278.1:n.63dup
ENST00000644329.1:c.4380dup	ENSP00000496611.1:p.Glu1461Ter
ENST00000644335.1:c.4377dup	ENSP00000496317.1:p.Glu1460Ter
ENST00000644399.1:c.4502dup
ENST00000645024.1:n.2665dup
ENST00000646388.1:c.4575dup	ENSP00000495921.1:p.Glu1526Ter
ENST00000646634.1:n.3396dup
ENST00000646674.1:n.1833dup
ENST00000647042.1:n.1804dup
ENST00000647180.1:n.1694dup
ENST00000219476.7:c.4581dup	ENSP00000219476.3:p.Glu1528Ter
ENST00000350773.8:c.4512dup	ENSP00000344383.4:p.Glu1505Ter
ENST00000382538.10:c.4236dup	ENSP00000371978.6:p.Glu1413Ter
ENST00000401874.6:c.4380dup	ENSP00000384468.2:p.Glu1461Ter
ENST00000439117.6:c.*3748dup	ENSP00000406980.2:n.*3748dup
ENST00000439673.6:c.4272dup	ENSP00000399232.2:p.Glu1425Ter
ENST00000497886.5:n.2339dup
ENST00000568454.5:c.4413dup	ENSP00000454487.1:p.Glu1472Ter
ENST00000569110.1:c.763dup
ENST00000569930.1:n.1696dup
NM_000548.3:c.4581dup , LRG_487t1:c.4581dup	NP_000539.2:p.Glu1528Ter
NM_001077183.1:c.4380dup	NP_001070651.1:p.Glu1461Ter
NM_001114382.1:c.4512dup	NP_001107854.1:p.Glu1505Ter
XM_005255529.3:c.4452dup	XP_005255586.2:p.Glu1485Ter
XM_005255531.3:c.4383dup	XP_005255588.2:p.Glu1462Ter
XM_011522636.1:c.4635dup	XP_011520938.1:p.Glu1546Ter
XM_011522637.1:c.4632dup	XP_011520939.1:p.Glu1545Ter
XM_011522638.1:c.4524dup	XP_011520940.1:p.Glu1509Ter
XM_011522639.1:c.4506dup	XP_011520941.1:p.Glu1503Ter
XM_011522640.1:c.4503dup	XP_011520942.1:p.Glu1502Ter
XM_011522641.1:c.4272dup	XP_011520943.1:p.Glu1425Ter
NM_000548.4:c.4581dup	NP_000539.2:p.Glu1528Ter
NM_001077183.2:c.4380dup	NP_001070651.1:p.Glu1461Ter
NM_001114382.2:c.4512dup	NP_001107854.1:p.Glu1505Ter
NM_001318827.1:c.4272dup	NP_001305756.1:p.Glu1425Ter
NM_001318829.1:c.4236dup	NP_001305758.1:p.Glu1413Ter
NM_001318831.1:c.3849dup	NP_001305760.1:p.Glu1284Ter
NM_001318832.1:c.4413dup	NP_001305761.1:p.Glu1472Ter
NM_001363528.1:c.4383dup	NP_001350457.1:p.Glu1462Ter
NM_021055.2:c.4452dup	NP_066399.2:p.Glu1485Ter
XM_005255531.4:c.4383dup	XP_005255588.2:p.Glu1462Ter
XM_011522636.2:c.4635dup	XP_011520938.1:p.Glu1546Ter
XM_011522637.2:c.4632dup	XP_011520939.1:p.Glu1545Ter
XM_011522638.2:c.4797dup	XP_011520940.2:p.Glu1600Ter
XM_011522639.2:c.4506dup	XP_011520941.1:p.Glu1503Ter
XM_011522640.2:c.4503dup	XP_011520942.1:p.Glu1502Ter
XM_017023615.1:c.4578dup	XP_016879104.1:p.Glu1527Ter
XM_017023616.1:c.4449dup	XP_016879105.1:p.Glu1484Ter
XM_017023617.1:c.4545dup	XP_016879106.1:p.Glu1516Ter
XM_017023618.1:c.3291dup	XP_016879107.1:p.Glu1098Ter
XM_024450413.1:c.4380dup	XP_024306181.1:p.Glu1461Ter
NM_000548.5:c.4581dup MANE Select	NP_000539.2:p.Glu1528Ter
NM_001370404.1:c.4449dup	NP_001357333.1:p.Glu1484Ter
NM_001370405.1:c.4452dup	NP_001357334.1:p.Glu1485Ter
NM_001077183.3:c.4380dup	NP_001070651.1:p.Glu1461Ter
NM_001114382.3:c.4512dup	NP_001107854.1:p.Glu1505Ter
NM_001318827.2:c.4272dup	NP_001305756.1:p.Glu1425Ter
NM_001318829.2:c.4236dup	NP_001305758.1:p.Glu1413Ter
NM_001318831.2:c.3849dup	NP_001305760.1:p.Glu1284Ter
NM_001318832.2:c.4413dup	NP_001305761.1:p.Glu1472Ter
NM_001363528.2:c.4383dup	NP_001350457.1:p.Glu1462Ter
NM_021055.3:c.4452dup	NP_066399.2:p.Glu1485Ter