Canonical Allele Identifier: CA2731575709

Gene: TSC2

Linked Data

• dbSNP Id: rs746755160

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088346T>A , CM000678.2:g.2088346T>A	GRCh38
NC_000016.9:g.2138347T>A , CM000678.1:g.2138347T>A	GRCh37
NC_000016.8:g.2078348T>A	NCBI36
NG_005895.1:g.44041T>A , LRG_487:g.44041T>A
NG_008617.1:g.54875A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*3608+21T>A	ENSP00000455997.2:n.*3608+21T>A
ENST00000642206.2:c.5106+21T>A	ENSP00000495146.2:n.5106+21T>A
ENST00000642365.2:c.5256+21T>A	ENSP00000495459.2:n.5256+21T>A
ENST00000644417.2:c.*5772+21T>A	ENSP00000493912.2:n.*5772+21T>A
ENST00000646464.2:c.*8008+21T>A	ENSP00000496610.2:n.*8008+21T>A
ENST00000219476.9:c.5259+21T>A MANE Select	ENSP00000219476.3:n.5259+21T>A
ENST00000350773.9:c.5190+21T>A	ENSP00000344383.4:n.5190+21T>A
ENST00000401874.7:c.5058+21T>A	ENSP00000384468.2:n.5058+21T>A
ENST00000568454.6:c.5091+21T>A	ENSP00000454487.1:n.5091+21T>A
ENST00000569110.2:c.1482+21T>A
ENST00000569930.2:n.3141+21T>A
ENST00000642365.1:c.3913+21T>A
ENST00000642561.1:c.5118+21T>A	ENSP00000495099.1:n.5118+21T>A
ENST00000642791.1:n.856+21T>A
ENST00000642797.1:c.5061+21T>A	ENSP00000493846.1:n.5061+21T>A
ENST00000642936.1:c.5127+21T>A	ENSP00000494514.1:n.5127+21T>A
ENST00000643088.1:c.5052+21T>A	ENSP00000494747.1:n.5052+21T>A
ENST00000643426.1:n.2907+21T>A
ENST00000643946.1:c.5184+21T>A	ENSP00000495927.1:n.5184+21T>A
ENST00000644043.1:c.5130+21T>A	ENSP00000496262.1:n.5130+21T>A
ENST00000644329.1:c.5145+21T>A	ENSP00000496611.1:n.5145+21T>A
ENST00000644335.1:c.5055+21T>A	ENSP00000496317.1:n.5055+21T>A
ENST00000644399.1:c.5180+21T>A
ENST00000645024.1:n.3343+21T>A
ENST00000646388.1:c.5253+21T>A	ENSP00000495921.1:n.5253+21T>A
ENST00000646634.1:n.4074+21T>A
ENST00000646674.1:n.2511+21T>A
ENST00000647042.1:n.2482+21T>A
ENST00000647180.1:n.2372+21T>A
ENST00000219476.7:c.5259+21T>A	ENSP00000219476.3:n.5259+21T>A
ENST00000350773.8:c.5190+21T>A	ENSP00000344383.4:n.5190+21T>A
ENST00000382538.10:c.4914+21T>A	ENSP00000371978.6:n.4914+21T>A
ENST00000401874.6:c.5058+21T>A	ENSP00000384468.2:n.5058+21T>A
ENST00000439117.6:c.*4426+21T>A	ENSP00000406980.2:n.*4426+21T>A
ENST00000439673.6:c.4950+21T>A	ENSP00000399232.2:n.4950+21T>A
ENST00000497886.5:n.2982+21T>A
ENST00000568454.5:c.5091+21T>A	ENSP00000454487.1:n.5091+21T>A
ENST00000569110.1:c.1441+21T>A
ENST00000569930.1:n.2374+21T>A
NM_000548.3:c.5259+21T>A , LRG_487t1:c.5259+21T>A	NP_000539.2:n.5259+21T>A
NM_001077183.1:c.5058+21T>A	NP_001070651.1:n.5058+21T>A
NM_001114382.1:c.5190+21T>A	NP_001107854.1:n.5190+21T>A
XM_005255529.3:c.5130+21T>A	XP_005255586.2:n.5130+21T>A
XM_005255531.3:c.5061+21T>A	XP_005255588.2:n.5061+21T>A
XM_011522636.1:c.5313+21T>A	XP_011520938.1:n.5313+21T>A
XM_011522637.1:c.5310+21T>A	XP_011520939.1:n.5310+21T>A
XM_011522638.1:c.5202+21T>A	XP_011520940.1:n.5202+21T>A
XM_011522639.1:c.5184+21T>A	XP_011520941.1:n.5184+21T>A
XM_011522640.1:c.5181+21T>A	XP_011520942.1:n.5181+21T>A
XM_011522641.1:c.4950+21T>A	XP_011520943.1:n.4950+21T>A
NM_000548.4:c.5259+21T>A	NP_000539.2:n.5259+21T>A
NM_001077183.2:c.5058+21T>A	NP_001070651.1:n.5058+21T>A
NM_001114382.2:c.5190+21T>A	NP_001107854.1:n.5190+21T>A
NM_001318827.1:c.4950+21T>A	NP_001305756.1:n.4950+21T>A
NM_001318829.1:c.4914+21T>A	NP_001305758.1:n.4914+21T>A
NM_001318831.1:c.4527+21T>A	NP_001305760.1:n.4527+21T>A
NM_001318832.1:c.5091+21T>A	NP_001305761.1:n.5091+21T>A
NM_001363528.1:c.5061+21T>A	NP_001350457.1:n.5061+21T>A
NM_021055.2:c.5130+21T>A	NP_066399.2:n.5130+21T>A
XM_005255531.4:c.5061+21T>A	XP_005255588.2:n.5061+21T>A
XM_011522636.2:c.5313+21T>A	XP_011520938.1:n.5313+21T>A
XM_011522637.2:c.5310+21T>A	XP_011520939.1:n.5310+21T>A
XM_011522638.2:c.5475+21T>A	XP_011520940.2:n.5475+21T>A
XM_011522639.2:c.5184+21T>A	XP_011520941.1:n.5184+21T>A
XM_011522640.2:c.5181+21T>A	XP_011520942.1:n.5181+21T>A
XM_017023615.1:c.5256+21T>A	XP_016879104.1:n.5256+21T>A
XM_017023616.1:c.5127+21T>A	XP_016879105.1:n.5127+21T>A
XM_017023617.1:c.5223+21T>A	XP_016879106.1:n.5223+21T>A
XM_017023618.1:c.3969+21T>A	XP_016879107.1:n.3969+21T>A
XM_024450413.1:c.5145+21T>A	XP_024306181.1:n.5145+21T>A
NM_000548.5:c.5259+21T>A MANE Select	NP_000539.2:n.5259+21T>A
NM_001370404.1:c.5127+21T>A	NP_001357333.1:n.5127+21T>A
NM_001370405.1:c.5118+21T>A	NP_001357334.1:n.5118+21T>A
NM_001077183.3:c.5058+21T>A	NP_001070651.1:n.5058+21T>A
NM_001114382.3:c.5190+21T>A	NP_001107854.1:n.5190+21T>A
NM_001318827.2:c.4950+21T>A	NP_001305756.1:n.4950+21T>A
NM_001318829.2:c.4914+21T>A	NP_001305758.1:n.4914+21T>A
NM_001318831.2:c.4527+21T>A	NP_001305760.1:n.4527+21T>A
NM_001318832.2:c.5091+21T>A	NP_001305761.1:n.5091+21T>A
NM_001363528.2:c.5061+21T>A	NP_001350457.1:n.5061+21T>A
NM_021055.3:c.5130+21T>A	NP_066399.2:n.5130+21T>A