Canonical Allele Identifier: CA2697549442

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2760171
• ClinVar RCV Id: RCV003512457

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088286dup , CM000678.2:g.2088286dup	GRCh38
NC_000016.9:g.2138287dup , CM000678.1:g.2138287dup	GRCh37
NC_000016.8:g.2078288dup	NCBI36
NG_005895.1:g.43981dup , LRG_487:g.43981dup
NG_008617.1:g.54936dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3569dup	ENSP00000455997.2:n.*3569dup
ENST00000642206.2:c.5067dup	ENSP00000495146.2:p.Ile1690AspfsTer?
ENST00000642365.2:c.5217dup	ENSP00000495459.2:p.Ile1740AspfsTer?
ENST00000644417.2:c.*5733dup	ENSP00000493912.2:n.*5733dup
ENST00000646464.2:c.*7969dup	ENSP00000496610.2:n.*7969dup
ENST00000219476.9:c.5220dup MANE Select	ENSP00000219476.3:p.Ile1741AspfsTer?
ENST00000350773.9:c.5151dup	ENSP00000344383.4:p.Ile1718AspfsTer?
ENST00000401874.7:c.5019dup	ENSP00000384468.2:p.Ile1674AspfsTer?
ENST00000568454.6:c.5052dup	ENSP00000454487.1:p.Ile1685AspfsTer?
ENST00000569110.2:c.1443dup
ENST00000569930.2:n.3102dup
ENST00000642365.1:c.3874dup
ENST00000642561.1:c.5079dup	ENSP00000495099.1:p.Ile1694AspfsTer?
ENST00000642791.1:n.817dup
ENST00000642797.1:c.5022dup	ENSP00000493846.1:p.Ile1675AspfsTer?
ENST00000642936.1:c.5088dup	ENSP00000494514.1:p.Ile1697AspfsTer?
ENST00000643088.1:c.5013dup	ENSP00000494747.1:p.Ile1672AspfsTer?
ENST00000643426.1:n.2868dup
ENST00000643946.1:c.5145dup	ENSP00000495927.1:p.Ile1716AspfsTer?
ENST00000644043.1:c.5091dup	ENSP00000496262.1:p.Ile1698AspfsTer?
ENST00000644329.1:c.5106dup	ENSP00000496611.1:p.Ile1703AspfsTer?
ENST00000644335.1:c.5016dup	ENSP00000496317.1:p.Ile1673AspfsTer?
ENST00000644399.1:c.5141dup
ENST00000645024.1:n.3304dup
ENST00000646388.1:c.5214dup	ENSP00000495921.1:p.Ile1739AspfsTer?
ENST00000646634.1:n.4035dup
ENST00000646674.1:n.2472dup
ENST00000647042.1:n.2443dup
ENST00000647180.1:n.2333dup
ENST00000219476.7:c.5220dup	ENSP00000219476.3:p.Ile1741AspfsTer?
ENST00000350773.8:c.5151dup	ENSP00000344383.4:p.Ile1718AspfsTer?
ENST00000382538.10:c.4875dup	ENSP00000371978.6:p.Ile1626AspfsTer?
ENST00000401874.6:c.5019dup	ENSP00000384468.2:p.Ile1674AspfsTer?
ENST00000439117.6:c.*4387dup	ENSP00000406980.2:n.*4387dup
ENST00000439673.6:c.4911dup	ENSP00000399232.2:p.Ile1638AspfsTer?
ENST00000497886.5:n.2943dup
ENST00000568454.5:c.5052dup	ENSP00000454487.1:p.Ile1685AspfsTer?
ENST00000569110.1:c.1402dup
ENST00000569930.1:n.2335dup
NM_000548.3:c.5220dup , LRG_487t1:c.5220dup	NP_000539.2:p.Ile1741AspfsTer?
NM_001077183.1:c.5019dup	NP_001070651.1:p.Ile1674AspfsTer?
NM_001114382.1:c.5151dup	NP_001107854.1:p.Ile1718AspfsTer?
XM_005255529.3:c.5091dup	XP_005255586.2:p.Ile1698AspfsTer?
XM_005255531.3:c.5022dup	XP_005255588.2:p.Ile1675AspfsTer?
XM_011522636.1:c.5274dup	XP_011520938.1:p.Ile1759AspfsTer?
XM_011522637.1:c.5271dup	XP_011520939.1:p.Ile1758AspfsTer?
XM_011522638.1:c.5163dup	XP_011520940.1:p.Ile1722AspfsTer?
XM_011522639.1:c.5145dup	XP_011520941.1:p.Ile1716AspfsTer?
XM_011522640.1:c.5142dup	XP_011520942.1:p.Ile1715AspfsTer?
XM_011522641.1:c.4911dup	XP_011520943.1:p.Ile1638AspfsTer?
NM_000548.4:c.5220dup	NP_000539.2:p.Ile1741AspfsTer?
NM_001077183.2:c.5019dup	NP_001070651.1:p.Ile1674AspfsTer?
NM_001114382.2:c.5151dup	NP_001107854.1:p.Ile1718AspfsTer?
NM_001318827.1:c.4911dup	NP_001305756.1:p.Ile1638AspfsTer?
NM_001318829.1:c.4875dup	NP_001305758.1:p.Ile1626AspfsTer?
NM_001318831.1:c.4488dup	NP_001305760.1:p.Ile1497AspfsTer?
NM_001318832.1:c.5052dup	NP_001305761.1:p.Ile1685AspfsTer?
NM_001363528.1:c.5022dup	NP_001350457.1:p.Ile1675AspfsTer?
NM_021055.2:c.5091dup	NP_066399.2:p.Ile1698AspfsTer?
XM_005255531.4:c.5022dup	XP_005255588.2:p.Ile1675AspfsTer?
XM_011522636.2:c.5274dup	XP_011520938.1:p.Ile1759AspfsTer?
XM_011522637.2:c.5271dup	XP_011520939.1:p.Ile1758AspfsTer?
XM_011522638.2:c.5436dup	XP_011520940.2:p.Ile1813AspfsTer?
XM_011522639.2:c.5145dup	XP_011520941.1:p.Ile1716AspfsTer?
XM_011522640.2:c.5142dup	XP_011520942.1:p.Ile1715AspfsTer?
XM_017023615.1:c.5217dup	XP_016879104.1:p.Ile1740AspfsTer?
XM_017023616.1:c.5088dup	XP_016879105.1:p.Ile1697AspfsTer?
XM_017023617.1:c.5184dup	XP_016879106.1:p.Ile1729AspfsTer?
XM_017023618.1:c.3930dup	XP_016879107.1:p.Ile1311AspfsTer?
XM_024450413.1:c.5106dup	XP_024306181.1:p.Ile1703AspfsTer?
NM_000548.5:c.5220dup MANE Select	NP_000539.2:p.Ile1741AspfsTer?
NM_001370404.1:c.5088dup	NP_001357333.1:p.Ile1697AspfsTer?
NM_001370405.1:c.5079dup	NP_001357334.1:p.Ile1694AspfsTer?
NM_001077183.3:c.5019dup	NP_001070651.1:p.Ile1674AspfsTer?
NM_001114382.3:c.5151dup	NP_001107854.1:p.Ile1718AspfsTer?
NM_001318827.2:c.4911dup	NP_001305756.1:p.Ile1638AspfsTer?
NM_001318829.2:c.4875dup	NP_001305758.1:p.Ile1626AspfsTer?
NM_001318831.2:c.4488dup	NP_001305760.1:p.Ile1497AspfsTer?
NM_001318832.2:c.5052dup	NP_001305761.1:p.Ile1685AspfsTer?
NM_001363528.2:c.5022dup	NP_001350457.1:p.Ile1675AspfsTer?
NM_021055.3:c.5091dup	NP_066399.2:p.Ile1698AspfsTer?