Canonical Allele Identifier: CA2838629635

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088443_2088444del , CM000678.2:g.2088443_2088444del	GRCh38
NC_000016.9:g.2138444_2138445del , CM000678.1:g.2138444_2138445del	GRCh37
NC_000016.8:g.2078445_2078446del	NCBI36
NG_005895.1:g.44138_44139del , LRG_487:g.44138_44139del
NG_008617.1:g.54777_54778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3609-3_*3609-2del	ENSP00000455997.2:n.*3609-3_*3609-2del
ENST00000642206.2:c.5107-3_5107-2del	ENSP00000495146.2:n.5107-3_5107-2del
ENST00000642365.2:c.5257-3_5257-2del	ENSP00000495459.2:n.5257-3_5257-2del
ENST00000644417.2:c.*5773-3_*5773-2del	ENSP00000493912.2:n.*5773-3_*5773-2del
ENST00000646464.2:c.*8009-3_*8009-2del	ENSP00000496610.2:n.*8009-3_*8009-2del
ENST00000219476.9:c.5260-3_5260-2del MANE Select	ENSP00000219476.3:n.5260-3_5260-2del
ENST00000350773.9:c.5191-3_5191-2del	ENSP00000344383.4:n.5191-3_5191-2del
ENST00000401874.7:c.5059-3_5059-2del	ENSP00000384468.2:n.5059-3_5059-2del
ENST00000568454.6:c.5092-3_5092-2del	ENSP00000454487.1:n.5092-3_5092-2del
ENST00000569110.2:c.1483-3_1483-2del
ENST00000569930.2:n.3142-3_3142-2del
ENST00000642365.1:c.3914-3_3914-2del
ENST00000642561.1:c.5119-3_5119-2del	ENSP00000495099.1:n.5119-3_5119-2del
ENST00000642791.1:n.857-3_857-2del
ENST00000642797.1:c.5062-3_5062-2del	ENSP00000493846.1:n.5062-3_5062-2del
ENST00000642936.1:c.5128-3_5128-2del	ENSP00000494514.1:n.5128-3_5128-2del
ENST00000643088.1:c.5053-3_5053-2del	ENSP00000494747.1:n.5053-3_5053-2del
ENST00000643426.1:n.2908-3_2908-2del
ENST00000643946.1:c.5185-3_5185-2del	ENSP00000495927.1:n.5185-3_5185-2del
ENST00000644043.1:c.5131-3_5131-2del	ENSP00000496262.1:n.5131-3_5131-2del
ENST00000644329.1:c.5146-3_5146-2del	ENSP00000496611.1:n.5146-3_5146-2del
ENST00000644335.1:c.5056-3_5056-2del	ENSP00000496317.1:n.5056-3_5056-2del
ENST00000644399.1:c.5181-3_5181-2del
ENST00000645024.1:n.3344-3_3344-2del
ENST00000646388.1:c.5254-3_5254-2del	ENSP00000495921.1:n.5254-3_5254-2del
ENST00000646634.1:n.4075-3_4075-2del
ENST00000646674.1:n.2512-3_2512-2del
ENST00000647042.1:n.2483-3_2483-2del
ENST00000647180.1:n.2373-3_2373-2del
ENST00000219476.7:c.5260-3_5260-2del	ENSP00000219476.3:n.5260-3_5260-2del
ENST00000350773.8:c.5191-3_5191-2del	ENSP00000344383.4:n.5191-3_5191-2del
ENST00000382538.10:c.4915-3_4915-2del	ENSP00000371978.6:n.4915-3_4915-2del
ENST00000401874.6:c.5059-3_5059-2del	ENSP00000384468.2:n.5059-3_5059-2del
ENST00000439117.6:c.*4427-3_*4427-2del	ENSP00000406980.2:n.*4427-3_*4427-2del
ENST00000439673.6:c.4951-3_4951-2del	ENSP00000399232.2:n.4951-3_4951-2del
ENST00000497886.5:n.2983-3_2983-2del
ENST00000568454.5:c.5092-3_5092-2del	ENSP00000454487.1:n.5092-3_5092-2del
ENST00000569110.1:c.1442-3_1442-2del
ENST00000569930.1:n.2375-3_2375-2del
NM_000548.3:c.5260-3_5260-2del , LRG_487t1:c.5260-3_5260-2del	NP_000539.2:n.5260-3_5260-2del
NM_001077183.1:c.5059-3_5059-2del	NP_001070651.1:n.5059-3_5059-2del
NM_001114382.1:c.5191-3_5191-2del	NP_001107854.1:n.5191-3_5191-2del
XM_005255529.3:c.5131-3_5131-2del	XP_005255586.2:n.5131-3_5131-2del
XM_005255531.3:c.5062-3_5062-2del	XP_005255588.2:n.5062-3_5062-2del
XM_011522636.1:c.5314-3_5314-2del	XP_011520938.1:n.5314-3_5314-2del
XM_011522637.1:c.5311-3_5311-2del	XP_011520939.1:n.5311-3_5311-2del
XM_011522638.1:c.5203-3_5203-2del	XP_011520940.1:n.5203-3_5203-2del
XM_011522639.1:c.5185-3_5185-2del	XP_011520941.1:n.5185-3_5185-2del
XM_011522640.1:c.5182-3_5182-2del	XP_011520942.1:n.5182-3_5182-2del
XM_011522641.1:c.4951-3_4951-2del	XP_011520943.1:n.4951-3_4951-2del
NM_000548.4:c.5260-3_5260-2del	NP_000539.2:n.5260-3_5260-2del
NM_001077183.2:c.5059-3_5059-2del	NP_001070651.1:n.5059-3_5059-2del
NM_001114382.2:c.5191-3_5191-2del	NP_001107854.1:n.5191-3_5191-2del
NM_001318827.1:c.4951-3_4951-2del	NP_001305756.1:n.4951-3_4951-2del
NM_001318829.1:c.4915-3_4915-2del	NP_001305758.1:n.4915-3_4915-2del
NM_001318831.1:c.4528-3_4528-2del	NP_001305760.1:n.4528-3_4528-2del
NM_001318832.1:c.5092-3_5092-2del	NP_001305761.1:n.5092-3_5092-2del
NM_001363528.1:c.5062-3_5062-2del	NP_001350457.1:n.5062-3_5062-2del
NM_021055.2:c.5131-3_5131-2del	NP_066399.2:n.5131-3_5131-2del
XM_005255531.4:c.5062-3_5062-2del	XP_005255588.2:n.5062-3_5062-2del
XM_011522636.2:c.5314-3_5314-2del	XP_011520938.1:n.5314-3_5314-2del
XM_011522637.2:c.5311-3_5311-2del	XP_011520939.1:n.5311-3_5311-2del
XM_011522638.2:c.5476-3_5476-2del	XP_011520940.2:n.5476-3_5476-2del
XM_011522639.2:c.5185-3_5185-2del	XP_011520941.1:n.5185-3_5185-2del
XM_011522640.2:c.5182-3_5182-2del	XP_011520942.1:n.5182-3_5182-2del
XM_017023615.1:c.5257-3_5257-2del	XP_016879104.1:n.5257-3_5257-2del
XM_017023616.1:c.5128-3_5128-2del	XP_016879105.1:n.5128-3_5128-2del
XM_017023617.1:c.5224-3_5224-2del	XP_016879106.1:n.5224-3_5224-2del
XM_017023618.1:c.3970-3_3970-2del	XP_016879107.1:n.3970-3_3970-2del
XM_024450413.1:c.5146-3_5146-2del	XP_024306181.1:n.5146-3_5146-2del
NM_000548.5:c.5260-3_5260-2del MANE Select	NP_000539.2:n.5260-3_5260-2del
NM_001370404.1:c.5128-3_5128-2del	NP_001357333.1:n.5128-3_5128-2del
NM_001370405.1:c.5119-3_5119-2del	NP_001357334.1:n.5119-3_5119-2del
NM_001077183.3:c.5059-3_5059-2del	NP_001070651.1:n.5059-3_5059-2del
NM_001114382.3:c.5191-3_5191-2del	NP_001107854.1:n.5191-3_5191-2del
NM_001318827.2:c.4951-3_4951-2del	NP_001305756.1:n.4951-3_4951-2del
NM_001318829.2:c.4915-3_4915-2del	NP_001305758.1:n.4915-3_4915-2del
NM_001318831.2:c.4528-3_4528-2del	NP_001305760.1:n.4528-3_4528-2del
NM_001318832.2:c.5092-3_5092-2del	NP_001305761.1:n.5092-3_5092-2del
NM_001363528.2:c.5062-3_5062-2del	NP_001350457.1:n.5062-3_5062-2del
NM_021055.3:c.5131-3_5131-2del	NP_066399.2:n.5131-3_5131-2del