Canonical Allele Identifier: CA2631119240

Gene: TSC2

Linked Data

• gnomAD v4: 16-2088397-C-CGGTTGCCACGCCTCCCAGACT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088398_2088418dup , CM000678.2:g.2088398_2088418dup	GRCh38
NC_000016.9:g.2138399_2138419dup , CM000678.1:g.2138399_2138419dup	GRCh37
NC_000016.8:g.2078400_2078420dup	NCBI36
NG_005895.1:g.44093_44113dup , LRG_487:g.44093_44113dup
NG_008617.1:g.54803_54823dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3609-48_*3609-28dup	ENSP00000455997.2:n.*3609-48_*3609-28dup
ENST00000642206.2:c.5107-48_5107-28dup	ENSP00000495146.2:n.5107-48_5107-28dup
ENST00000642365.2:c.5257-48_5257-28dup	ENSP00000495459.2:n.5257-48_5257-28dup
ENST00000644417.2:c.*5773-48_*5773-28dup	ENSP00000493912.2:n.*5773-48_*5773-28dup
ENST00000646464.2:c.*8009-48_*8009-28dup	ENSP00000496610.2:n.*8009-48_*8009-28dup
ENST00000219476.9:c.5260-48_5260-28dup MANE Select	ENSP00000219476.3:n.5260-48_5260-28dup
ENST00000350773.9:c.5191-48_5191-28dup	ENSP00000344383.4:n.5191-48_5191-28dup
ENST00000401874.7:c.5059-48_5059-28dup	ENSP00000384468.2:n.5059-48_5059-28dup
ENST00000568454.6:c.5092-48_5092-28dup	ENSP00000454487.1:n.5092-48_5092-28dup
ENST00000569110.2:c.1483-48_1483-28dup
ENST00000569930.2:n.3142-48_3142-28dup
ENST00000642365.1:c.3914-48_3914-28dup
ENST00000642561.1:c.5119-48_5119-28dup	ENSP00000495099.1:n.5119-48_5119-28dup
ENST00000642791.1:n.857-48_857-28dup
ENST00000642797.1:c.5062-48_5062-28dup	ENSP00000493846.1:n.5062-48_5062-28dup
ENST00000642936.1:c.5128-48_5128-28dup	ENSP00000494514.1:n.5128-48_5128-28dup
ENST00000643088.1:c.5053-48_5053-28dup	ENSP00000494747.1:n.5053-48_5053-28dup
ENST00000643426.1:n.2908-48_2908-28dup
ENST00000643946.1:c.5185-48_5185-28dup	ENSP00000495927.1:n.5185-48_5185-28dup
ENST00000644043.1:c.5131-48_5131-28dup	ENSP00000496262.1:n.5131-48_5131-28dup
ENST00000644329.1:c.5146-48_5146-28dup	ENSP00000496611.1:n.5146-48_5146-28dup
ENST00000644335.1:c.5056-48_5056-28dup	ENSP00000496317.1:n.5056-48_5056-28dup
ENST00000644399.1:c.5181-48_5181-28dup
ENST00000645024.1:n.3344-48_3344-28dup
ENST00000646388.1:c.5254-48_5254-28dup	ENSP00000495921.1:n.5254-48_5254-28dup
ENST00000646634.1:n.4075-48_4075-28dup
ENST00000646674.1:n.2512-48_2512-28dup
ENST00000647042.1:n.2483-48_2483-28dup
ENST00000647180.1:n.2373-48_2373-28dup
ENST00000219476.7:c.5260-48_5260-28dup	ENSP00000219476.3:n.5260-48_5260-28dup
ENST00000350773.8:c.5191-48_5191-28dup	ENSP00000344383.4:n.5191-48_5191-28dup
ENST00000382538.10:c.4915-48_4915-28dup	ENSP00000371978.6:n.4915-48_4915-28dup
ENST00000401874.6:c.5059-48_5059-28dup	ENSP00000384468.2:n.5059-48_5059-28dup
ENST00000439117.6:c.*4427-48_*4427-28dup	ENSP00000406980.2:n.*4427-48_*4427-28dup
ENST00000439673.6:c.4951-48_4951-28dup	ENSP00000399232.2:n.4951-48_4951-28dup
ENST00000497886.5:n.2983-48_2983-28dup
ENST00000568454.5:c.5092-48_5092-28dup	ENSP00000454487.1:n.5092-48_5092-28dup
ENST00000569110.1:c.1442-48_1442-28dup
ENST00000569930.1:n.2375-48_2375-28dup
NM_000548.3:c.5260-48_5260-28dup , LRG_487t1:c.5260-48_5260-28dup	NP_000539.2:n.5260-48_5260-28dup
NM_001077183.1:c.5059-48_5059-28dup	NP_001070651.1:n.5059-48_5059-28dup
NM_001114382.1:c.5191-48_5191-28dup	NP_001107854.1:n.5191-48_5191-28dup
XM_005255529.3:c.5131-48_5131-28dup	XP_005255586.2:n.5131-48_5131-28dup
XM_005255531.3:c.5062-48_5062-28dup	XP_005255588.2:n.5062-48_5062-28dup
XM_011522636.1:c.5314-48_5314-28dup	XP_011520938.1:n.5314-48_5314-28dup
XM_011522637.1:c.5311-48_5311-28dup	XP_011520939.1:n.5311-48_5311-28dup
XM_011522638.1:c.5203-48_5203-28dup	XP_011520940.1:n.5203-48_5203-28dup
XM_011522639.1:c.5185-48_5185-28dup	XP_011520941.1:n.5185-48_5185-28dup
XM_011522640.1:c.5182-48_5182-28dup	XP_011520942.1:n.5182-48_5182-28dup
XM_011522641.1:c.4951-48_4951-28dup	XP_011520943.1:n.4951-48_4951-28dup
NM_000548.4:c.5260-48_5260-28dup	NP_000539.2:n.5260-48_5260-28dup
NM_001077183.2:c.5059-48_5059-28dup	NP_001070651.1:n.5059-48_5059-28dup
NM_001114382.2:c.5191-48_5191-28dup	NP_001107854.1:n.5191-48_5191-28dup
NM_001318827.1:c.4951-48_4951-28dup	NP_001305756.1:n.4951-48_4951-28dup
NM_001318829.1:c.4915-48_4915-28dup	NP_001305758.1:n.4915-48_4915-28dup
NM_001318831.1:c.4528-48_4528-28dup	NP_001305760.1:n.4528-48_4528-28dup
NM_001318832.1:c.5092-48_5092-28dup	NP_001305761.1:n.5092-48_5092-28dup
NM_001363528.1:c.5062-48_5062-28dup	NP_001350457.1:n.5062-48_5062-28dup
NM_021055.2:c.5131-48_5131-28dup	NP_066399.2:n.5131-48_5131-28dup
XM_005255531.4:c.5062-48_5062-28dup	XP_005255588.2:n.5062-48_5062-28dup
XM_011522636.2:c.5314-48_5314-28dup	XP_011520938.1:n.5314-48_5314-28dup
XM_011522637.2:c.5311-48_5311-28dup	XP_011520939.1:n.5311-48_5311-28dup
XM_011522638.2:c.5476-48_5476-28dup	XP_011520940.2:n.5476-48_5476-28dup
XM_011522639.2:c.5185-48_5185-28dup	XP_011520941.1:n.5185-48_5185-28dup
XM_011522640.2:c.5182-48_5182-28dup	XP_011520942.1:n.5182-48_5182-28dup
XM_017023615.1:c.5257-48_5257-28dup	XP_016879104.1:n.5257-48_5257-28dup
XM_017023616.1:c.5128-48_5128-28dup	XP_016879105.1:n.5128-48_5128-28dup
XM_017023617.1:c.5224-48_5224-28dup	XP_016879106.1:n.5224-48_5224-28dup
XM_017023618.1:c.3970-48_3970-28dup	XP_016879107.1:n.3970-48_3970-28dup
XM_024450413.1:c.5146-48_5146-28dup	XP_024306181.1:n.5146-48_5146-28dup
NM_000548.5:c.5260-48_5260-28dup MANE Select	NP_000539.2:n.5260-48_5260-28dup
NM_001370404.1:c.5128-48_5128-28dup	NP_001357333.1:n.5128-48_5128-28dup
NM_001370405.1:c.5119-48_5119-28dup	NP_001357334.1:n.5119-48_5119-28dup
NM_001077183.3:c.5059-48_5059-28dup	NP_001070651.1:n.5059-48_5059-28dup
NM_001114382.3:c.5191-48_5191-28dup	NP_001107854.1:n.5191-48_5191-28dup
NM_001318827.2:c.4951-48_4951-28dup	NP_001305756.1:n.4951-48_4951-28dup
NM_001318829.2:c.4915-48_4915-28dup	NP_001305758.1:n.4915-48_4915-28dup
NM_001318831.2:c.4528-48_4528-28dup	NP_001305760.1:n.4528-48_4528-28dup
NM_001318832.2:c.5092-48_5092-28dup	NP_001305761.1:n.5092-48_5092-28dup
NM_001363528.2:c.5062-48_5062-28dup	NP_001350457.1:n.5062-48_5062-28dup
NM_021055.3:c.5131-48_5131-28dup	NP_066399.2:n.5131-48_5131-28dup