Canonical Allele Identifier: CA2731829118

Gene: TSC2

Linked Data

• dbSNP Id: rs2151629898

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088268delinsCC , CM000678.2:g.2088268delinsCC	GRCh38
NC_000016.9:g.2138269delinsCC , CM000678.1:g.2138269delinsCC	GRCh37
NC_000016.8:g.2078270delinsCC	NCBI36
NG_005895.1:g.43963delinsCC , LRG_487:g.43963delinsCC
NG_008617.1:g.54953delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3551delinsCC	ENSP00000455997.2:n.*3551delinsCC
ENST00000642206.2:c.5049delinsCC	ENSP00000495146.2:p.Ile1684HisfsTer?
ENST00000642365.2:c.5199delinsCC	ENSP00000495459.2:p.Ile1734HisfsTer?
ENST00000644417.2:c.*5715delinsCC	ENSP00000493912.2:n.*5715delinsCC
ENST00000646464.2:c.*7951delinsCC	ENSP00000496610.2:n.*7951delinsCC
ENST00000219476.9:c.5202delinsCC MANE Select	ENSP00000219476.3:p.Ile1735HisfsTer?
ENST00000350773.9:c.5133delinsCC	ENSP00000344383.4:p.Ile1712HisfsTer?
ENST00000401874.7:c.5001delinsCC	ENSP00000384468.2:p.Ile1668HisfsTer?
ENST00000568454.6:c.5034delinsCC	ENSP00000454487.1:p.Ile1679HisfsTer?
ENST00000569110.2:c.1425delinsCC
ENST00000569930.2:n.3084delinsCC
ENST00000642365.1:c.3856delinsCC
ENST00000642561.1:c.5061delinsCC	ENSP00000495099.1:p.Ile1688HisfsTer?
ENST00000642791.1:n.799delinsCC
ENST00000642797.1:c.5004delinsCC	ENSP00000493846.1:p.Ile1669HisfsTer?
ENST00000642936.1:c.5070delinsCC	ENSP00000494514.1:p.Ile1691HisfsTer?
ENST00000643088.1:c.4995delinsCC	ENSP00000494747.1:p.Ile1666HisfsTer?
ENST00000643426.1:n.2850delinsCC
ENST00000643946.1:c.5127delinsCC	ENSP00000495927.1:p.Ile1710HisfsTer?
ENST00000644043.1:c.5073delinsCC	ENSP00000496262.1:p.Ile1692HisfsTer?
ENST00000644329.1:c.5088delinsCC	ENSP00000496611.1:p.Ile1697HisfsTer?
ENST00000644335.1:c.4998delinsCC	ENSP00000496317.1:p.Ile1667HisfsTer?
ENST00000644399.1:c.5123delinsCC
ENST00000645024.1:n.3286delinsCC
ENST00000646388.1:c.5196delinsCC	ENSP00000495921.1:p.Ile1733HisfsTer?
ENST00000646634.1:n.4017delinsCC
ENST00000646674.1:n.2454delinsCC
ENST00000647042.1:n.2425delinsCC
ENST00000647180.1:n.2315delinsCC
ENST00000219476.7:c.5202delinsCC	ENSP00000219476.3:p.Ile1735HisfsTer?
ENST00000350773.8:c.5133delinsCC	ENSP00000344383.4:p.Ile1712HisfsTer?
ENST00000382538.10:c.4857delinsCC	ENSP00000371978.6:p.Ile1620HisfsTer?
ENST00000401874.6:c.5001delinsCC	ENSP00000384468.2:p.Ile1668HisfsTer?
ENST00000439117.6:c.*4369delinsCC	ENSP00000406980.2:n.*4369delinsCC
ENST00000439673.6:c.4893delinsCC	ENSP00000399232.2:p.Ile1632HisfsTer?
ENST00000497886.5:n.2925delinsCC
ENST00000568454.5:c.5034delinsCC	ENSP00000454487.1:p.Ile1679HisfsTer?
ENST00000569110.1:c.1384delinsCC
ENST00000569930.1:n.2317delinsCC
NM_000548.3:c.5202delinsCC , LRG_487t1:c.5202delinsCC	NP_000539.2:p.Ile1735HisfsTer?
NM_001077183.1:c.5001delinsCC	NP_001070651.1:p.Ile1668HisfsTer?
NM_001114382.1:c.5133delinsCC	NP_001107854.1:p.Ile1712HisfsTer?
XM_005255529.3:c.5073delinsCC	XP_005255586.2:p.Ile1692HisfsTer?
XM_005255531.3:c.5004delinsCC	XP_005255588.2:p.Ile1669HisfsTer?
XM_011522636.1:c.5256delinsCC	XP_011520938.1:p.Ile1753HisfsTer?
XM_011522637.1:c.5253delinsCC	XP_011520939.1:p.Ile1752HisfsTer?
XM_011522638.1:c.5145delinsCC	XP_011520940.1:p.Ile1716HisfsTer?
XM_011522639.1:c.5127delinsCC	XP_011520941.1:p.Ile1710HisfsTer?
XM_011522640.1:c.5124delinsCC	XP_011520942.1:p.Ile1709HisfsTer?
XM_011522641.1:c.4893delinsCC	XP_011520943.1:p.Ile1632HisfsTer?
NM_000548.4:c.5202delinsCC	NP_000539.2:p.Ile1735HisfsTer?
NM_001077183.2:c.5001delinsCC	NP_001070651.1:p.Ile1668HisfsTer?
NM_001114382.2:c.5133delinsCC	NP_001107854.1:p.Ile1712HisfsTer?
NM_001318827.1:c.4893delinsCC	NP_001305756.1:p.Ile1632HisfsTer?
NM_001318829.1:c.4857delinsCC	NP_001305758.1:p.Ile1620HisfsTer?
NM_001318831.1:c.4470delinsCC	NP_001305760.1:p.Ile1491HisfsTer?
NM_001318832.1:c.5034delinsCC	NP_001305761.1:p.Ile1679HisfsTer?
NM_001363528.1:c.5004delinsCC	NP_001350457.1:p.Ile1669HisfsTer?
NM_021055.2:c.5073delinsCC	NP_066399.2:p.Ile1692HisfsTer?
XM_005255531.4:c.5004delinsCC	XP_005255588.2:p.Ile1669HisfsTer?
XM_011522636.2:c.5256delinsCC	XP_011520938.1:p.Ile1753HisfsTer?
XM_011522637.2:c.5253delinsCC	XP_011520939.1:p.Ile1752HisfsTer?
XM_011522638.2:c.5418delinsCC	XP_011520940.2:p.Ile1807HisfsTer?
XM_011522639.2:c.5127delinsCC	XP_011520941.1:p.Ile1710HisfsTer?
XM_011522640.2:c.5124delinsCC	XP_011520942.1:p.Ile1709HisfsTer?
XM_017023615.1:c.5199delinsCC	XP_016879104.1:p.Ile1734HisfsTer?
XM_017023616.1:c.5070delinsCC	XP_016879105.1:p.Ile1691HisfsTer?
XM_017023617.1:c.5166delinsCC	XP_016879106.1:p.Ile1723HisfsTer?
XM_017023618.1:c.3912delinsCC	XP_016879107.1:p.Ile1305HisfsTer?
XM_024450413.1:c.5088delinsCC	XP_024306181.1:p.Ile1697HisfsTer?
NM_000548.5:c.5202delinsCC MANE Select	NP_000539.2:p.Ile1735HisfsTer?
NM_001370404.1:c.5070delinsCC	NP_001357333.1:p.Ile1691HisfsTer?
NM_001370405.1:c.5061delinsCC	NP_001357334.1:p.Ile1688HisfsTer?
NM_001077183.3:c.5001delinsCC	NP_001070651.1:p.Ile1668HisfsTer?
NM_001114382.3:c.5133delinsCC	NP_001107854.1:p.Ile1712HisfsTer?
NM_001318827.2:c.4893delinsCC	NP_001305756.1:p.Ile1632HisfsTer?
NM_001318829.2:c.4857delinsCC	NP_001305758.1:p.Ile1620HisfsTer?
NM_001318831.2:c.4470delinsCC	NP_001305760.1:p.Ile1491HisfsTer?
NM_001318832.2:c.5034delinsCC	NP_001305761.1:p.Ile1679HisfsTer?
NM_001363528.2:c.5004delinsCC	NP_001350457.1:p.Ile1669HisfsTer?
NM_021055.3:c.5073delinsCC	NP_066399.2:p.Ile1692HisfsTer?