Canonical Allele Identifier: CA973766165

Gene: TSC2

Linked Data

• dbSNP Id: rs2089197072
• gnomAD v3: 16-2075541-A-AAAAAAAAG
• gnomAD v4: 16-2075541-A-AAAAAAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2075548_2075549insGAAAAAAA , CM000678.2:g.2075548_2075549insGAAAAAAA	GRCh38
NC_000016.9:g.2125549_2125550insGAAAAAAA , CM000678.1:g.2125549_2125550insGAAAAAAA	GRCh37
NC_000016.8:g.2065550_2065551insGAAAAAAA	NCBI36
NG_005895.1:g.31243_31244insGAAAAAAA , LRG_487:g.31243_31244insGAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1093-251_*1093-250insGAAAAAAA	ENSP00000455997.2:n.*1093-251_*1093-250insGAAAAAAA
ENST00000642206.2:c.2591-251_2591-250insGAAAAAAA	ENSP00000495146.2:n.2591-251_2591-250insGAAAAAAA
ENST00000642365.2:c.2546-251_2546-250insGAAAAAAA	ENSP00000495459.2:n.2546-251_2546-250insGAAAAAAA
ENST00000644417.2:c.*1983-251_*1983-250insGAAAAAAA	ENSP00000493912.2:n.*1983-251_*1983-250insGAAAAAAA
ENST00000646464.2:c.*3349_*3350insGAAAAAAA	ENSP00000496610.2:n.*3349_*3350insGAAAAAAA
ENST00000219476.9:c.2546-251_2546-250insGAAAAAAA MANE Select	ENSP00000219476.3:n.2546-251_2546-250insGAAAAAAA
ENST00000350773.9:c.2546-251_2546-250insGAAAAAAA	ENSP00000344383.4:n.2546-251_2546-250insGAAAAAAA
ENST00000401874.7:c.2546-251_2546-250insGAAAAAAA	ENSP00000384468.2:n.2546-251_2546-250insGAAAAAAA
ENST00000568454.6:c.2579-251_2579-250insGAAAAAAA	ENSP00000454487.1:n.2579-251_2579-250insGAAAAAAA
ENST00000642365.1:c.1203-251_1203-250insGAAAAAAA
ENST00000642561.1:c.2546-251_2546-250insGAAAAAAA	ENSP00000495099.1:n.2546-251_2546-250insGAAAAAAA
ENST00000642797.1:c.2546-251_2546-250insGAAAAAAA	ENSP00000493846.1:n.2546-251_2546-250insGAAAAAAA
ENST00000642936.1:c.2546-251_2546-250insGAAAAAAA	ENSP00000494514.1:n.2546-251_2546-250insGAAAAAAA
ENST00000643088.1:c.2546-251_2546-250insGAAAAAAA	ENSP00000494747.1:n.2546-251_2546-250insGAAAAAAA
ENST00000643298.1:c.*2048-251_*2048-250insGAAAAAAA	ENSP00000494393.1:n.*2048-251_*2048-250insGAAAAAAA
ENST00000643946.1:c.2546-251_2546-250insGAAAAAAA	ENSP00000495927.1:n.2546-251_2546-250insGAAAAAAA
ENST00000644043.1:c.2546-251_2546-250insGAAAAAAA	ENSP00000496262.1:n.2546-251_2546-250insGAAAAAAA
ENST00000644329.1:c.2546-251_2546-250insGAAAAAAA	ENSP00000496611.1:n.2546-251_2546-250insGAAAAAAA
ENST00000644335.1:c.2546-251_2546-250insGAAAAAAA	ENSP00000496317.1:n.2546-251_2546-250insGAAAAAAA
ENST00000644399.1:c.2539-251_2539-250insGAAAAAAA
ENST00000645024.1:n.828-251_828-250insGAAAAAAA
ENST00000646388.1:c.2546-251_2546-250insGAAAAAAA	ENSP00000495921.1:n.2546-251_2546-250insGAAAAAAA
ENST00000646634.1:n.1559-251_1559-250insGAAAAAAA
ENST00000219476.7:c.2546-251_2546-250insGAAAAAAA	ENSP00000219476.3:n.2546-251_2546-250insGAAAAAAA
ENST00000350773.8:c.2546-251_2546-250insGAAAAAAA	ENSP00000344383.4:n.2546-251_2546-250insGAAAAAAA
ENST00000382538.10:c.2399-251_2399-250insGAAAAAAA	ENSP00000371978.6:n.2399-251_2399-250insGAAAAAAA
ENST00000401874.6:c.2546-251_2546-250insGAAAAAAA	ENSP00000384468.2:n.2546-251_2546-250insGAAAAAAA
ENST00000439117.6:c.*1845-251_*1845-250insGAAAAAAA	ENSP00000406980.2:n.*1845-251_*1845-250insGAAAAAAA
ENST00000439673.6:c.2435-251_2435-250insGAAAAAAA	ENSP00000399232.2:n.2435-251_2435-250insGAAAAAAA
ENST00000568454.5:c.2579-251_2579-250insGAAAAAAA	ENSP00000454487.1:n.2579-251_2579-250insGAAAAAAA
NM_000548.3:c.2546-251_2546-250insGAAAAAAA , LRG_487t1:c.2546-251_2546-250insGAAAAAAA	NP_000539.2:n.2546-251_2546-250insGAAAAAAA
NM_001077183.1:c.2546-251_2546-250insGAAAAAAA	NP_001070651.1:n.2546-251_2546-250insGAAAAAAA
NM_001114382.1:c.2546-251_2546-250insGAAAAAAA	NP_001107854.1:n.2546-251_2546-250insGAAAAAAA
XM_005255529.3:c.2546-251_2546-250insGAAAAAAA	XP_005255586.2:n.2546-251_2546-250insGAAAAAAA
XM_005255531.3:c.2546-251_2546-250insGAAAAAAA	XP_005255588.2:n.2546-251_2546-250insGAAAAAAA
XM_011522636.1:c.2546-251_2546-250insGAAAAAAA	XP_011520938.1:n.2546-251_2546-250insGAAAAAAA
XM_011522637.1:c.2546-251_2546-250insGAAAAAAA	XP_011520939.1:n.2546-251_2546-250insGAAAAAAA
XM_011522638.1:c.2435-251_2435-250insGAAAAAAA	XP_011520940.1:n.2435-251_2435-250insGAAAAAAA
XM_011522639.1:c.2546-251_2546-250insGAAAAAAA	XP_011520941.1:n.2546-251_2546-250insGAAAAAAA
XM_011522640.1:c.2546-251_2546-250insGAAAAAAA	XP_011520942.1:n.2546-251_2546-250insGAAAAAAA
XM_011522641.1:c.2435-251_2435-250insGAAAAAAA	XP_011520943.1:n.2435-251_2435-250insGAAAAAAA
NM_000548.4:c.2546-251_2546-250insGAAAAAAA	NP_000539.2:n.2546-251_2546-250insGAAAAAAA
NM_001077183.2:c.2546-251_2546-250insGAAAAAAA	NP_001070651.1:n.2546-251_2546-250insGAAAAAAA
NM_001114382.2:c.2546-251_2546-250insGAAAAAAA	NP_001107854.1:n.2546-251_2546-250insGAAAAAAA
NM_001318827.1:c.2435-251_2435-250insGAAAAAAA	NP_001305756.1:n.2435-251_2435-250insGAAAAAAA
NM_001318829.1:c.2399-251_2399-250insGAAAAAAA	NP_001305758.1:n.2399-251_2399-250insGAAAAAAA
NM_001318831.1:c.1946-251_1946-250insGAAAAAAA	NP_001305760.1:n.1946-251_1946-250insGAAAAAAA
NM_001318832.1:c.2579-251_2579-250insGAAAAAAA	NP_001305761.1:n.2579-251_2579-250insGAAAAAAA
NM_001363528.1:c.2546-251_2546-250insGAAAAAAA	NP_001350457.1:n.2546-251_2546-250insGAAAAAAA
NM_021055.2:c.2546-251_2546-250insGAAAAAAA	NP_066399.2:n.2546-251_2546-250insGAAAAAAA
XM_005255531.4:c.2546-251_2546-250insGAAAAAAA	XP_005255588.2:n.2546-251_2546-250insGAAAAAAA
XM_011522636.2:c.2546-251_2546-250insGAAAAAAA	XP_011520938.1:n.2546-251_2546-250insGAAAAAAA
XM_011522637.2:c.2546-251_2546-250insGAAAAAAA	XP_011520939.1:n.2546-251_2546-250insGAAAAAAA
XM_011522638.2:c.2708-251_2708-250insGAAAAAAA	XP_011520940.2:n.2708-251_2708-250insGAAAAAAA
XM_011522639.2:c.2546-251_2546-250insGAAAAAAA	XP_011520941.1:n.2546-251_2546-250insGAAAAAAA
XM_011522640.2:c.2546-251_2546-250insGAAAAAAA	XP_011520942.1:n.2546-251_2546-250insGAAAAAAA
XM_017023615.1:c.2546-251_2546-250insGAAAAAAA	XP_016879104.1:n.2546-251_2546-250insGAAAAAAA
XM_017023616.1:c.2546-251_2546-250insGAAAAAAA	XP_016879105.1:n.2546-251_2546-250insGAAAAAAA
XM_017023617.1:c.2708-251_2708-250insGAAAAAAA	XP_016879106.1:n.2708-251_2708-250insGAAAAAAA
XM_017023618.1:c.1202-251_1202-250insGAAAAAAA	XP_016879107.1:n.1202-251_1202-250insGAAAAAAA
XM_024450413.1:c.2546-251_2546-250insGAAAAAAA	XP_024306181.1:n.2546-251_2546-250insGAAAAAAA
NM_000548.5:c.2546-251_2546-250insGAAAAAAA MANE Select	NP_000539.2:n.2546-251_2546-250insGAAAAAAA
NM_001370404.1:c.2546-251_2546-250insGAAAAAAA	NP_001357333.1:n.2546-251_2546-250insGAAAAAAA
NM_001370405.1:c.2546-251_2546-250insGAAAAAAA	NP_001357334.1:n.2546-251_2546-250insGAAAAAAA
NM_001077183.3:c.2546-251_2546-250insGAAAAAAA	NP_001070651.1:n.2546-251_2546-250insGAAAAAAA
NM_001114382.3:c.2546-251_2546-250insGAAAAAAA	NP_001107854.1:n.2546-251_2546-250insGAAAAAAA
NM_001318827.2:c.2435-251_2435-250insGAAAAAAA	NP_001305756.1:n.2435-251_2435-250insGAAAAAAA
NM_001318829.2:c.2399-251_2399-250insGAAAAAAA	NP_001305758.1:n.2399-251_2399-250insGAAAAAAA
NM_001318831.2:c.1946-251_1946-250insGAAAAAAA	NP_001305760.1:n.1946-251_1946-250insGAAAAAAA
NM_001318832.2:c.2579-251_2579-250insGAAAAAAA	NP_001305761.1:n.2579-251_2579-250insGAAAAAAA
NM_001363528.2:c.2546-251_2546-250insGAAAAAAA	NP_001350457.1:n.2546-251_2546-250insGAAAAAAA
NM_021055.3:c.2546-251_2546-250insGAAAAAAA	NP_066399.2:n.2546-251_2546-250insGAAAAAAA