Canonical Allele Identifier: CA2573151980

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1455431
• ClinVar RCV Id: RCV001958603
• dbSNP Id: rs2151630268

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088277dup , CM000678.2:g.2088277dup	GRCh38
NC_000016.9:g.2138278dup , CM000678.1:g.2138278dup	GRCh37
NC_000016.8:g.2078279dup	NCBI36
NG_005895.1:g.43972dup , LRG_487:g.43972dup
NG_008617.1:g.54947dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3560dup	ENSP00000455997.2:n.*3560dup
ENST00000642206.2:c.5058dup	ENSP00000495146.2:p.Ser1687LeufsTer?
ENST00000642365.2:c.5208dup	ENSP00000495459.2:p.Ser1737LeufsTer?
ENST00000644417.2:c.*5724dup	ENSP00000493912.2:n.*5724dup
ENST00000646464.2:c.*7960dup	ENSP00000496610.2:n.*7960dup
ENST00000219476.9:c.5211dup MANE Select	ENSP00000219476.3:p.Ser1738LeufsTer?
ENST00000350773.9:c.5142dup	ENSP00000344383.4:p.Ser1715LeufsTer?
ENST00000401874.7:c.5010dup	ENSP00000384468.2:p.Ser1671LeufsTer?
ENST00000568454.6:c.5043dup	ENSP00000454487.1:p.Ser1682LeufsTer?
ENST00000569110.2:c.1434dup
ENST00000569930.2:n.3093dup
ENST00000642365.1:c.3865dup
ENST00000642561.1:c.5070dup	ENSP00000495099.1:p.Ser1691LeufsTer?
ENST00000642791.1:n.808dup
ENST00000642797.1:c.5013dup	ENSP00000493846.1:p.Ser1672LeufsTer?
ENST00000642936.1:c.5079dup	ENSP00000494514.1:p.Ser1694LeufsTer?
ENST00000643088.1:c.5004dup	ENSP00000494747.1:p.Ser1669LeufsTer?
ENST00000643426.1:n.2859dup
ENST00000643946.1:c.5136dup	ENSP00000495927.1:p.Ser1713LeufsTer?
ENST00000644043.1:c.5082dup	ENSP00000496262.1:p.Ser1695LeufsTer?
ENST00000644329.1:c.5097dup	ENSP00000496611.1:p.Ser1700LeufsTer?
ENST00000644335.1:c.5007dup	ENSP00000496317.1:p.Ser1670LeufsTer?
ENST00000644399.1:c.5132dup
ENST00000645024.1:n.3295dup
ENST00000646388.1:c.5205dup	ENSP00000495921.1:p.Ser1736LeufsTer?
ENST00000646634.1:n.4026dup
ENST00000646674.1:n.2463dup
ENST00000647042.1:n.2434dup
ENST00000647180.1:n.2324dup
ENST00000219476.7:c.5211dup	ENSP00000219476.3:p.Ser1738LeufsTer?
ENST00000350773.8:c.5142dup	ENSP00000344383.4:p.Ser1715LeufsTer?
ENST00000382538.10:c.4866dup	ENSP00000371978.6:p.Ser1623LeufsTer?
ENST00000401874.6:c.5010dup	ENSP00000384468.2:p.Ser1671LeufsTer?
ENST00000439117.6:c.*4378dup	ENSP00000406980.2:n.*4378dup
ENST00000439673.6:c.4902dup	ENSP00000399232.2:p.Ser1635LeufsTer?
ENST00000497886.5:n.2934dup
ENST00000568454.5:c.5043dup	ENSP00000454487.1:p.Ser1682LeufsTer?
ENST00000569110.1:c.1393dup
ENST00000569930.1:n.2326dup
NM_000548.3:c.5211dup , LRG_487t1:c.5211dup	NP_000539.2:p.Ser1738LeufsTer?
NM_001077183.1:c.5010dup	NP_001070651.1:p.Ser1671LeufsTer?
NM_001114382.1:c.5142dup	NP_001107854.1:p.Ser1715LeufsTer?
XM_005255529.3:c.5082dup	XP_005255586.2:p.Ser1695LeufsTer?
XM_005255531.3:c.5013dup	XP_005255588.2:p.Ser1672LeufsTer?
XM_011522636.1:c.5265dup	XP_011520938.1:p.Ser1756LeufsTer?
XM_011522637.1:c.5262dup	XP_011520939.1:p.Ser1755LeufsTer?
XM_011522638.1:c.5154dup	XP_011520940.1:p.Ser1719LeufsTer?
XM_011522639.1:c.5136dup	XP_011520941.1:p.Ser1713LeufsTer?
XM_011522640.1:c.5133dup	XP_011520942.1:p.Ser1712LeufsTer?
XM_011522641.1:c.4902dup	XP_011520943.1:p.Ser1635LeufsTer?
NM_000548.4:c.5211dup	NP_000539.2:p.Ser1738LeufsTer?
NM_001077183.2:c.5010dup	NP_001070651.1:p.Ser1671LeufsTer?
NM_001114382.2:c.5142dup	NP_001107854.1:p.Ser1715LeufsTer?
NM_001318827.1:c.4902dup	NP_001305756.1:p.Ser1635LeufsTer?
NM_001318829.1:c.4866dup	NP_001305758.1:p.Ser1623LeufsTer?
NM_001318831.1:c.4479dup	NP_001305760.1:p.Ser1494LeufsTer?
NM_001318832.1:c.5043dup	NP_001305761.1:p.Ser1682LeufsTer?
NM_001363528.1:c.5013dup	NP_001350457.1:p.Ser1672LeufsTer?
NM_021055.2:c.5082dup	NP_066399.2:p.Ser1695LeufsTer?
XM_005255531.4:c.5013dup	XP_005255588.2:p.Ser1672LeufsTer?
XM_011522636.2:c.5265dup	XP_011520938.1:p.Ser1756LeufsTer?
XM_011522637.2:c.5262dup	XP_011520939.1:p.Ser1755LeufsTer?
XM_011522638.2:c.5427dup	XP_011520940.2:p.Ser1810LeufsTer?
XM_011522639.2:c.5136dup	XP_011520941.1:p.Ser1713LeufsTer?
XM_011522640.2:c.5133dup	XP_011520942.1:p.Ser1712LeufsTer?
XM_017023615.1:c.5208dup	XP_016879104.1:p.Ser1737LeufsTer?
XM_017023616.1:c.5079dup	XP_016879105.1:p.Ser1694LeufsTer?
XM_017023617.1:c.5175dup	XP_016879106.1:p.Ser1726LeufsTer?
XM_017023618.1:c.3921dup	XP_016879107.1:p.Ser1308LeufsTer?
XM_024450413.1:c.5097dup	XP_024306181.1:p.Ser1700LeufsTer?
NM_000548.5:c.5211dup MANE Select	NP_000539.2:p.Ser1738LeufsTer?
NM_001370404.1:c.5079dup	NP_001357333.1:p.Ser1694LeufsTer?
NM_001370405.1:c.5070dup	NP_001357334.1:p.Ser1691LeufsTer?
NM_001077183.3:c.5010dup	NP_001070651.1:p.Ser1671LeufsTer?
NM_001114382.3:c.5142dup	NP_001107854.1:p.Ser1715LeufsTer?
NM_001318827.2:c.4902dup	NP_001305756.1:p.Ser1635LeufsTer?
NM_001318829.2:c.4866dup	NP_001305758.1:p.Ser1623LeufsTer?
NM_001318831.2:c.4479dup	NP_001305760.1:p.Ser1494LeufsTer?
NM_001318832.2:c.5043dup	NP_001305761.1:p.Ser1682LeufsTer?
NM_001363528.2:c.5013dup	NP_001350457.1:p.Ser1672LeufsTer?
NM_021055.3:c.5082dup	NP_066399.2:p.Ser1695LeufsTer?