Canonical Allele Identifier: CA916081757

Gene: TSC2

Linked Data

• ClinVar Variation Id: 845907
• ClinVar RCV Id: RCV001049073
• dbSNP Id: rs2084683129

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2048729_2048730insC , CM000678.2:g.2048729_2048730insC	GRCh38
NC_000016.9:g.2098730_2098731insC , CM000678.1:g.2098730_2098731insC	GRCh37
NC_000016.8:g.2038731_2038732insC	NCBI36
NG_005895.1:g.4424_4425insC , LRG_487:g.4424_4425insC
NG_008412.1:g.4137_4138insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.114_115insC	ENSP00000455997.2:p.Ile39HisfsTer28
ENST00000642206.2:c.114_115insC	ENSP00000495146.2:p.Ile39HisfsTer28
ENST00000642365.2:c.114_115insC	ENSP00000495459.2:p.Ile39HisfsTer28
ENST00000644417.2:c.114_115insC	ENSP00000493912.2:p.Ile39HisfsTer28
ENST00000646464.2:c.114_115insC	ENSP00000496610.2:p.Ile39HisfsTer28
ENST00000219476.9:c.114_115insC MANE Select	ENSP00000219476.3:p.Ile39HisfsTer28
ENST00000350773.9:c.114_115insC	ENSP00000344383.4:p.Ile39HisfsTer28
ENST00000401874.7:c.114_115insC	ENSP00000384468.2:p.Ile39HisfsTer28
ENST00000461648.3:n.224_225insC
ENST00000568454.6:c.147_148insC	ENSP00000454487.1:p.Ile50HisfsTer28
ENST00000642206.1:c.114_115insC	ENSP00000495146.1:p.Ile39HisfsTer28
ENST00000642561.1:c.114_115insC	ENSP00000495099.1:p.Ile39HisfsTer28
ENST00000642797.1:c.114_115insC	ENSP00000493846.1:p.Ile39HisfsTer28
ENST00000642812.1:n.171_172insC
ENST00000642936.1:c.114_115insC	ENSP00000494514.1:p.Ile39HisfsTer28
ENST00000643088.1:c.114_115insC	ENSP00000494747.1:p.Ile39HisfsTer28
ENST00000643149.1:n.224_225insC
ENST00000643298.1:c.114_115insC	ENSP00000494393.1:p.Ile39HisfsTer28
ENST00000643745.1:c.114_115insC	ENSP00000495948.1:p.Ile39HisfsTer28
ENST00000643946.1:c.114_115insC	ENSP00000495927.1:p.Ile39HisfsTer28
ENST00000644043.1:c.114_115insC	ENSP00000496262.1:p.Ile39HisfsTer28
ENST00000644135.1:c.114_115insC	ENSP00000495644.1:p.Ile39HisfsTer28
ENST00000644222.1:n.201_202insC
ENST00000644329.1:c.114_115insC	ENSP00000496611.1:p.Ile39HisfsTer28
ENST00000644335.1:c.114_115insC	ENSP00000496317.1:p.Ile39HisfsTer28
ENST00000644399.1:c.107_108insC
ENST00000644665.1:n.231_232insC
ENST00000645591.1:n.242_243insC
ENST00000646388.1:c.114_115insC	ENSP00000495921.1:p.Ile39HisfsTer28
ENST00000219476.7:c.114_115insC	ENSP00000219476.3:p.Ile39HisfsTer28
ENST00000350773.8:c.114_115insC	ENSP00000344383.4:p.Ile39HisfsTer28
ENST00000382538.10:c.-10+664_-10+665insC	ENSP00000371978.6:n.-10+664_-10+665insC
ENST00000401874.6:c.114_115insC	ENSP00000384468.2:p.Ile39HisfsTer28
ENST00000439117.6:c.114_115insC	ENSP00000406980.2:p.Ile39HisfsTer28
ENST00000439673.6:c.114_115insC	ENSP00000399232.2:p.Ile39HisfsTer28
ENST00000461648.2:n.219_220insC
ENST00000568454.5:c.147_148insC	ENSP00000454487.1:p.Ile50HisfsTer28
NM_000548.3:c.114_115insC , LRG_487t1:c.114_115insC	NP_000539.2:p.Ile39HisfsTer28
NM_001077183.1:c.114_115insC	NP_001070651.1:p.Ile39HisfsTer28
NM_001114382.1:c.114_115insC	NP_001107854.1:p.Ile39HisfsTer28
XM_005255529.3:c.114_115insC	XP_005255586.2:p.Ile39HisfsTer28
XM_005255531.3:c.114_115insC	XP_005255588.2:p.Ile39HisfsTer28
XM_011522636.1:c.114_115insC	XP_011520938.1:p.Ile39HisfsTer28
XM_011522637.1:c.114_115insC	XP_011520939.1:p.Ile39HisfsTer28
XM_011522638.1:c.114_115insC	XP_011520940.1:p.Ile39HisfsTer28
XM_011522639.1:c.114_115insC	XP_011520941.1:p.Ile39HisfsTer28
XM_011522640.1:c.114_115insC	XP_011520942.1:p.Ile39HisfsTer28
XM_011522641.1:c.114_115insC	XP_011520943.1:p.Ile39HisfsTer28
NM_000548.4:c.114_115insC	NP_000539.2:p.Ile39HisfsTer28
NM_001077183.2:c.114_115insC	NP_001070651.1:p.Ile39HisfsTer28
NM_001114382.2:c.114_115insC	NP_001107854.1:p.Ile39HisfsTer28
NM_001318827.1:c.114_115insC	NP_001305756.1:p.Ile39HisfsTer28
NM_001318829.1:c.-10+664_-10+665insC	NP_001305758.1:n.-10+664_-10+665insC
NM_001318831.1:c.-113_-112insC	NP_001305760.1:n.-113_-112insC
NM_001318832.1:c.147_148insC	NP_001305761.1:p.Ile50HisfsTer28
NM_001363528.1:c.114_115insC	NP_001350457.1:p.Ile39HisfsTer28
NM_021055.2:c.114_115insC	NP_066399.2:p.Ile39HisfsTer28
XM_005255531.4:c.114_115insC	XP_005255588.2:p.Ile39HisfsTer28
XM_011522636.2:c.114_115insC	XP_011520938.1:p.Ile39HisfsTer28
XM_011522637.2:c.114_115insC	XP_011520939.1:p.Ile39HisfsTer28
XM_011522638.2:c.387_388insC	XP_011520940.2:p.Ile130HisfsTer28
XM_011522639.2:c.114_115insC	XP_011520941.1:p.Ile39HisfsTer28
XM_011522640.2:c.114_115insC	XP_011520942.1:p.Ile39HisfsTer28
XM_017023615.1:c.114_115insC	XP_016879104.1:p.Ile39HisfsTer28
XM_017023616.1:c.114_115insC	XP_016879105.1:p.Ile39HisfsTer28
XM_017023617.1:c.387_388insC	XP_016879106.1:p.Ile130HisfsTer28
XM_017023618.1:c.-1318_-1317insC	XP_016879107.1:n.-1318_-1317insC
XM_024450413.1:c.114_115insC	XP_024306181.1:p.Ile39HisfsTer28
NM_000548.5:c.114_115insC MANE Select	NP_000539.2:p.Ile39HisfsTer28
NM_001370404.1:c.114_115insC	NP_001357333.1:p.Ile39HisfsTer28
NM_001370405.1:c.114_115insC	NP_001357334.1:p.Ile39HisfsTer28
NM_001077183.3:c.114_115insC	NP_001070651.1:p.Ile39HisfsTer28
NM_001114382.3:c.114_115insC	NP_001107854.1:p.Ile39HisfsTer28
NM_001318827.2:c.114_115insC	NP_001305756.1:p.Ile39HisfsTer28
NM_001318829.2:c.-10+664_-10+665insC	NP_001305758.1:n.-10+664_-10+665insC
NM_001318831.2:c.-113_-112insC	NP_001305760.1:n.-113_-112insC
NM_001318832.2:c.147_148insC	NP_001305761.1:p.Ile50HisfsTer28
NM_001363528.2:c.114_115insC	NP_001350457.1:p.Ile39HisfsTer28
NM_021055.3:c.114_115insC	NP_066399.2:p.Ile39HisfsTer28