Canonical Allele Identifier: CA916081798

Gene: TSC2

Linked Data

• ClinVar Variation Id: 861596
• ClinVar RCV Id: RCV001068157 ; RCV002402464 ; RCV002466618 ; RCV003898075
• dbSNP Id: rs2087028639
• gnomAD v4: 16-2064391-ACAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2064395_2064397del , CM000678.2:g.2064395_2064397del	GRCh38
NC_000016.9:g.2114396_2114398del , CM000678.1:g.2114396_2114398del	GRCh37
NC_000016.8:g.2054397_2054399del	NCBI36
NG_005895.1:g.20090_20092del , LRG_487:g.20090_20092del

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*114_*116del	ENSP00000455997.2:n.*114_*116del
ENST00000642206.2:c.1612_1614del	ENSP00000495146.2:p.His538del
ENST00000642365.2:c.1567_1569del	ENSP00000495459.2:p.His523del
ENST00000644417.2:c.*1004_*1006del	ENSP00000493912.2:n.*1004_*1006del
ENST00000646464.2:c.*1172_*1174del	ENSP00000496610.2:n.*1172_*1174del
ENST00000219476.9:c.1567_1569del MANE Select	ENSP00000219476.3:p.His523del
ENST00000350773.9:c.1567_1569del	ENSP00000344383.4:p.His523del
ENST00000401874.7:c.1567_1569del	ENSP00000384468.2:p.His523del
ENST00000463601.2:n.1695_1697del
ENST00000568454.6:c.1600_1602del	ENSP00000454487.1:p.His534del
ENST00000642365.1:c.224_226del
ENST00000642561.1:c.1567_1569del	ENSP00000495099.1:p.His523del
ENST00000642797.1:c.1567_1569del	ENSP00000493846.1:p.His523del
ENST00000642812.1:n.1612_1614del
ENST00000642936.1:c.1567_1569del	ENSP00000494514.1:p.His523del
ENST00000643088.1:c.1567_1569del	ENSP00000494747.1:p.His523del
ENST00000643149.1:n.3577_3579del
ENST00000643298.1:c.*1069_*1071del	ENSP00000494393.1:n.*1069_*1071del
ENST00000643745.1:c.*499_*501del	ENSP00000495948.1:n.*499_*501del
ENST00000643946.1:c.1567_1569del	ENSP00000495927.1:p.His523del
ENST00000644043.1:c.1567_1569del	ENSP00000496262.1:p.His523del
ENST00000644135.1:c.1567_1569del	ENSP00000495644.1:p.His523del
ENST00000644222.1:n.1654_1656del
ENST00000644329.1:c.1567_1569del	ENSP00000496611.1:p.His523del
ENST00000644335.1:c.1567_1569del	ENSP00000496317.1:p.His523del
ENST00000644399.1:c.1560_1562del
ENST00000644665.1:n.2741_2743del
ENST00000644847.1:n.559_561del
ENST00000645591.1:n.2625_2627del
ENST00000646388.1:c.1567_1569del	ENSP00000495921.1:p.His523del
ENST00000646634.1:n.580_582del
ENST00000647234.1:n.3325_3327del
ENST00000647242.1:n.2203_2205del
ENST00000219476.7:c.1567_1569del	ENSP00000219476.3:p.His523del
ENST00000350773.8:c.1567_1569del	ENSP00000344383.4:p.His523del
ENST00000382538.10:c.1420_1422del	ENSP00000371978.6:p.His474del
ENST00000401874.6:c.1567_1569del	ENSP00000384468.2:p.His523del
ENST00000439117.6:c.*866_*868del	ENSP00000406980.2:n.*866_*868del
ENST00000439673.6:c.1456_1458del	ENSP00000399232.2:p.His486del
ENST00000490108.1:n.340_342del
ENST00000568238.1:n.325_327del
ENST00000568454.5:c.1600_1602del	ENSP00000454487.1:p.His534del
ENST00000568566.5:c.207_209del	ENSP00000455997.1:n.207_209del
NM_000548.3:c.1567_1569del , LRG_487t1:c.1567_1569del	NP_000539.2:p.His523del
NM_001077183.1:c.1567_1569del	NP_001070651.1:p.His523del
NM_001114382.1:c.1567_1569del	NP_001107854.1:p.His523del
XM_005255529.3:c.1567_1569del	XP_005255586.2:p.His523del
XM_005255531.3:c.1567_1569del	XP_005255588.2:p.His523del
XM_011522636.1:c.1567_1569del	XP_011520938.1:p.His523del
XM_011522637.1:c.1567_1569del	XP_011520939.1:p.His523del
XM_011522638.1:c.1456_1458del	XP_011520940.1:p.His486del
XM_011522639.1:c.1567_1569del	XP_011520941.1:p.His523del
XM_011522640.1:c.1567_1569del	XP_011520942.1:p.His523del
XM_011522641.1:c.1456_1458del	XP_011520943.1:p.His486del
NM_000548.4:c.1567_1569del	NP_000539.2:p.His523del
NM_001077183.2:c.1567_1569del	NP_001070651.1:p.His523del
NM_001114382.2:c.1567_1569del	NP_001107854.1:p.His523del
NM_001318827.1:c.1456_1458del	NP_001305756.1:p.His486del
NM_001318829.1:c.1420_1422del	NP_001305758.1:p.His474del
NM_001318831.1:c.967_969del	NP_001305760.1:p.His323del
NM_001318832.1:c.1600_1602del	NP_001305761.1:p.His534del
NM_001363528.1:c.1567_1569del	NP_001350457.1:p.His523del
NM_021055.2:c.1567_1569del	NP_066399.2:p.His523del
XM_005255531.4:c.1567_1569del	XP_005255588.2:p.His523del
XM_011522636.2:c.1567_1569del	XP_011520938.1:p.His523del
XM_011522637.2:c.1567_1569del	XP_011520939.1:p.His523del
XM_011522638.2:c.1729_1731del	XP_011520940.2:p.His577del
XM_011522639.2:c.1567_1569del	XP_011520941.1:p.His523del
XM_011522640.2:c.1567_1569del	XP_011520942.1:p.His523del
XM_017023615.1:c.1567_1569del	XP_016879104.1:p.His523del
XM_017023616.1:c.1567_1569del	XP_016879105.1:p.His523del
XM_017023617.1:c.1729_1731del	XP_016879106.1:p.His577del
XM_017023618.1:c.223_225del	XP_016879107.1:p.His75del
XM_024450413.1:c.1567_1569del	XP_024306181.1:p.His523del
NM_000548.5:c.1567_1569del MANE Select	NP_000539.2:p.His523del
NM_001370404.1:c.1567_1569del	NP_001357333.1:p.His523del
NM_001370405.1:c.1567_1569del	NP_001357334.1:p.His523del
NM_001077183.3:c.1567_1569del	NP_001070651.1:p.His523del
NM_001114382.3:c.1567_1569del	NP_001107854.1:p.His523del
NM_001318827.2:c.1456_1458del	NP_001305756.1:p.His486del
NM_001318829.2:c.1420_1422del	NP_001305758.1:p.His474del
NM_001318831.2:c.967_969del	NP_001305760.1:p.His323del
NM_001318832.2:c.1600_1602del	NP_001305761.1:p.His534del
NM_001363528.2:c.1567_1569del	NP_001350457.1:p.His523del
NM_021055.3:c.1567_1569del	NP_066399.2:p.His523del