Canonical Allele Identifier: CA2202035567

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2075549_2075553delinsAAGAG , CM000678.2:g.2075549_2075553delinsAAGAG	GRCh38
NC_000016.9:g.2125550_2125554delinsAAGAG , CM000678.1:g.2125550_2125554delinsAAGAG	GRCh37
NC_000016.8:g.2065551_2065555delinsAAGAG	NCBI36
NG_005895.1:g.31244_31248delinsAAGAG , LRG_487:g.31244_31248delinsAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1093-250_*1093-246delinsAAGAG	ENSP00000455997.2:n.*1093-250_*1093-246delinsAAGAG
ENST00000642206.2:c.2591-250_2591-246delinsAAGAG	ENSP00000495146.2:n.2591-250_2591-246delinsAAGAG
ENST00000642365.2:c.2546-250_2546-246delinsAAGAG	ENSP00000495459.2:n.2546-250_2546-246delinsAAGAG
ENST00000644417.2:c.*1983-250_*1983-246delinsAAGAG	ENSP00000493912.2:n.*1983-250_*1983-246delinsAAGAG
ENST00000646464.2:c.*3350_*3354delinsAAGAG	ENSP00000496610.2:n.*3350_*3354delinsAAGAG
ENST00000219476.9:c.2546-250_2546-246delinsAAGAG MANE Select	ENSP00000219476.3:n.2546-250_2546-246delinsAAGAG
ENST00000350773.9:c.2546-250_2546-246delinsAAGAG	ENSP00000344383.4:n.2546-250_2546-246delinsAAGAG
ENST00000401874.7:c.2546-250_2546-246delinsAAGAG	ENSP00000384468.2:n.2546-250_2546-246delinsAAGAG
ENST00000568454.6:c.2579-250_2579-246delinsAAGAG	ENSP00000454487.1:n.2579-250_2579-246delinsAAGAG
ENST00000642365.1:c.1203-250_1203-246delinsAAGAG
ENST00000642561.1:c.2546-250_2546-246delinsAAGAG	ENSP00000495099.1:n.2546-250_2546-246delinsAAGAG
ENST00000642797.1:c.2546-250_2546-246delinsAAGAG	ENSP00000493846.1:n.2546-250_2546-246delinsAAGAG
ENST00000642936.1:c.2546-250_2546-246delinsAAGAG	ENSP00000494514.1:n.2546-250_2546-246delinsAAGAG
ENST00000643088.1:c.2546-250_2546-246delinsAAGAG	ENSP00000494747.1:n.2546-250_2546-246delinsAAGAG
ENST00000643298.1:c.*2048-250_*2048-246delinsAAGAG	ENSP00000494393.1:n.*2048-250_*2048-246delinsAAGAG
ENST00000643946.1:c.2546-250_2546-246delinsAAGAG	ENSP00000495927.1:n.2546-250_2546-246delinsAAGAG
ENST00000644043.1:c.2546-250_2546-246delinsAAGAG	ENSP00000496262.1:n.2546-250_2546-246delinsAAGAG
ENST00000644329.1:c.2546-250_2546-246delinsAAGAG	ENSP00000496611.1:n.2546-250_2546-246delinsAAGAG
ENST00000644335.1:c.2546-250_2546-246delinsAAGAG	ENSP00000496317.1:n.2546-250_2546-246delinsAAGAG
ENST00000644399.1:c.2539-250_2539-246delinsAAGAG
ENST00000645024.1:n.828-250_828-246delinsAAGAG
ENST00000646388.1:c.2546-250_2546-246delinsAAGAG	ENSP00000495921.1:n.2546-250_2546-246delinsAAGAG
ENST00000646634.1:n.1559-250_1559-246delinsAAGAG
ENST00000219476.7:c.2546-250_2546-246delinsAAGAG	ENSP00000219476.3:n.2546-250_2546-246delinsAAGAG
ENST00000350773.8:c.2546-250_2546-246delinsAAGAG	ENSP00000344383.4:n.2546-250_2546-246delinsAAGAG
ENST00000382538.10:c.2399-250_2399-246delinsAAGAG	ENSP00000371978.6:n.2399-250_2399-246delinsAAGAG
ENST00000401874.6:c.2546-250_2546-246delinsAAGAG	ENSP00000384468.2:n.2546-250_2546-246delinsAAGAG
ENST00000439117.6:c.*1845-250_*1845-246delinsAAGAG	ENSP00000406980.2:n.*1845-250_*1845-246delinsAAGAG
ENST00000439673.6:c.2435-250_2435-246delinsAAGAG	ENSP00000399232.2:n.2435-250_2435-246delinsAAGAG
ENST00000568454.5:c.2579-250_2579-246delinsAAGAG	ENSP00000454487.1:n.2579-250_2579-246delinsAAGAG
NM_000548.3:c.2546-250_2546-246delinsAAGAG , LRG_487t1:c.2546-250_2546-246delinsAAGAG	NP_000539.2:n.2546-250_2546-246delinsAAGAG
NM_001077183.1:c.2546-250_2546-246delinsAAGAG	NP_001070651.1:n.2546-250_2546-246delinsAAGAG
NM_001114382.1:c.2546-250_2546-246delinsAAGAG	NP_001107854.1:n.2546-250_2546-246delinsAAGAG
XM_005255529.3:c.2546-250_2546-246delinsAAGAG	XP_005255586.2:n.2546-250_2546-246delinsAAGAG
XM_005255531.3:c.2546-250_2546-246delinsAAGAG	XP_005255588.2:n.2546-250_2546-246delinsAAGAG
XM_011522636.1:c.2546-250_2546-246delinsAAGAG	XP_011520938.1:n.2546-250_2546-246delinsAAGAG
XM_011522637.1:c.2546-250_2546-246delinsAAGAG	XP_011520939.1:n.2546-250_2546-246delinsAAGAG
XM_011522638.1:c.2435-250_2435-246delinsAAGAG	XP_011520940.1:n.2435-250_2435-246delinsAAGAG
XM_011522639.1:c.2546-250_2546-246delinsAAGAG	XP_011520941.1:n.2546-250_2546-246delinsAAGAG
XM_011522640.1:c.2546-250_2546-246delinsAAGAG	XP_011520942.1:n.2546-250_2546-246delinsAAGAG
XM_011522641.1:c.2435-250_2435-246delinsAAGAG	XP_011520943.1:n.2435-250_2435-246delinsAAGAG
NM_000548.4:c.2546-250_2546-246delinsAAGAG	NP_000539.2:n.2546-250_2546-246delinsAAGAG
NM_001077183.2:c.2546-250_2546-246delinsAAGAG	NP_001070651.1:n.2546-250_2546-246delinsAAGAG
NM_001114382.2:c.2546-250_2546-246delinsAAGAG	NP_001107854.1:n.2546-250_2546-246delinsAAGAG
NM_001318827.1:c.2435-250_2435-246delinsAAGAG	NP_001305756.1:n.2435-250_2435-246delinsAAGAG
NM_001318829.1:c.2399-250_2399-246delinsAAGAG	NP_001305758.1:n.2399-250_2399-246delinsAAGAG
NM_001318831.1:c.1946-250_1946-246delinsAAGAG	NP_001305760.1:n.1946-250_1946-246delinsAAGAG
NM_001318832.1:c.2579-250_2579-246delinsAAGAG	NP_001305761.1:n.2579-250_2579-246delinsAAGAG
NM_001363528.1:c.2546-250_2546-246delinsAAGAG	NP_001350457.1:n.2546-250_2546-246delinsAAGAG
NM_021055.2:c.2546-250_2546-246delinsAAGAG	NP_066399.2:n.2546-250_2546-246delinsAAGAG
XM_005255531.4:c.2546-250_2546-246delinsAAGAG	XP_005255588.2:n.2546-250_2546-246delinsAAGAG
XM_011522636.2:c.2546-250_2546-246delinsAAGAG	XP_011520938.1:n.2546-250_2546-246delinsAAGAG
XM_011522637.2:c.2546-250_2546-246delinsAAGAG	XP_011520939.1:n.2546-250_2546-246delinsAAGAG
XM_011522638.2:c.2708-250_2708-246delinsAAGAG	XP_011520940.2:n.2708-250_2708-246delinsAAGAG
XM_011522639.2:c.2546-250_2546-246delinsAAGAG	XP_011520941.1:n.2546-250_2546-246delinsAAGAG
XM_011522640.2:c.2546-250_2546-246delinsAAGAG	XP_011520942.1:n.2546-250_2546-246delinsAAGAG
XM_017023615.1:c.2546-250_2546-246delinsAAGAG	XP_016879104.1:n.2546-250_2546-246delinsAAGAG
XM_017023616.1:c.2546-250_2546-246delinsAAGAG	XP_016879105.1:n.2546-250_2546-246delinsAAGAG
XM_017023617.1:c.2708-250_2708-246delinsAAGAG	XP_016879106.1:n.2708-250_2708-246delinsAAGAG
XM_017023618.1:c.1202-250_1202-246delinsAAGAG	XP_016879107.1:n.1202-250_1202-246delinsAAGAG
XM_024450413.1:c.2546-250_2546-246delinsAAGAG	XP_024306181.1:n.2546-250_2546-246delinsAAGAG
NM_000548.5:c.2546-250_2546-246delinsAAGAG MANE Select	NP_000539.2:n.2546-250_2546-246delinsAAGAG
NM_001370404.1:c.2546-250_2546-246delinsAAGAG	NP_001357333.1:n.2546-250_2546-246delinsAAGAG
NM_001370405.1:c.2546-250_2546-246delinsAAGAG	NP_001357334.1:n.2546-250_2546-246delinsAAGAG
NM_001077183.3:c.2546-250_2546-246delinsAAGAG	NP_001070651.1:n.2546-250_2546-246delinsAAGAG
NM_001114382.3:c.2546-250_2546-246delinsAAGAG	NP_001107854.1:n.2546-250_2546-246delinsAAGAG
NM_001318827.2:c.2435-250_2435-246delinsAAGAG	NP_001305756.1:n.2435-250_2435-246delinsAAGAG
NM_001318829.2:c.2399-250_2399-246delinsAAGAG	NP_001305758.1:n.2399-250_2399-246delinsAAGAG
NM_001318831.2:c.1946-250_1946-246delinsAAGAG	NP_001305760.1:n.1946-250_1946-246delinsAAGAG
NM_001318832.2:c.2579-250_2579-246delinsAAGAG	NP_001305761.1:n.2579-250_2579-246delinsAAGAG
NM_001363528.2:c.2546-250_2546-246delinsAAGAG	NP_001350457.1:n.2546-250_2546-246delinsAAGAG
NM_021055.3:c.2546-250_2546-246delinsAAGAG	NP_066399.2:n.2546-250_2546-246delinsAAGAG