Canonical Allele Identifier: CA319418

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2056713A>G , CM000678.2:g.2056713A>G	GRCh38
NC_000016.9:g.2106714A>G , CM000678.1:g.2106714A>G	GRCh37
NC_000016.8:g.2046715A>G	NCBI36
NG_005895.1:g.12408A>G , LRG_487:g.12408A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.718A>G MANE Select	NP_000539.2:p.Ile240Val
ENST00000219476.9:c.718A>G MANE Select	ENSP00000219476.3:p.Ile240Val
NM_000548.3:c.718A>G , LRG_487t1:c.718A>G	NP_000539.2:p.Ile240Val
NM_000548.4:c.718A>G	NP_000539.2:p.Ile240Val
NM_001077183.1:c.718A>G	NP_001070651.1:p.Ile240Val
NM_001077183.2:c.718A>G	NP_001070651.1:p.Ile240Val
NM_001077183.3:c.718A>G	NP_001070651.1:p.Ile240Val
NM_001114382.1:c.718A>G	NP_001107854.1:p.Ile240Val
NM_001114382.2:c.718A>G	NP_001107854.1:p.Ile240Val
NM_001114382.3:c.718A>G	NP_001107854.1:p.Ile240Val
NM_001318827.1:c.607A>G	NP_001305756.1:p.Ile203Val
NM_001318827.2:c.607A>G	NP_001305756.1:p.Ile203Val
NM_001318829.1:c.571A>G	NP_001305758.1:p.Ile191Val
NM_001318829.2:c.571A>G	NP_001305758.1:p.Ile191Val
NM_001318831.1:c.118A>G	NP_001305760.1:p.Ile40Val
NM_001318831.2:c.118A>G	NP_001305760.1:p.Ile40Val
NM_001318832.1:c.751A>G	NP_001305761.1:p.Ile251Val
NM_001318832.2:c.751A>G	NP_001305761.1:p.Ile251Val
NM_001363528.1:c.718A>G	NP_001350457.1:p.Ile240Val
NM_001363528.2:c.718A>G	NP_001350457.1:p.Ile240Val
NM_001370404.1:c.718A>G	NP_001357333.1:p.Ile240Val
NM_001370405.1:c.718A>G	NP_001357334.1:p.Ile240Val
NM_021055.2:c.718A>G	NP_066399.2:p.Ile240Val
NM_021055.3:c.718A>G	NP_066399.2:p.Ile240Val
ENST00000219476.7:c.718A>G	ENSP00000219476.3:p.Ile240Val
ENST00000350773.8:c.718A>G	ENSP00000344383.4:p.Ile240Val
ENST00000350773.9:c.718A>G	ENSP00000344383.4:p.Ile240Val
ENST00000382538.10:c.571A>G	ENSP00000371978.6:p.Ile191Val
ENST00000401874.6:c.718A>G	ENSP00000384468.2:p.Ile240Val
ENST00000401874.7:c.718A>G	ENSP00000384468.2:p.Ile240Val
ENST00000439117.6:c.*17A>G	ENSP00000406980.2:n.*17A>G
ENST00000439673.6:c.607A>G	ENSP00000399232.2:p.Ile203Val
ENST00000467949.1:c.154A>G	ENSP00000454997.1:p.Ile52Val
ENST00000467949.2:n.170A>G
ENST00000568454.5:c.751A>G	ENSP00000454487.1:p.Ile251Val
ENST00000568454.6:c.751A>G	ENSP00000454487.1:p.Ile251Val
ENST00000568566.6:c.718A>G	ENSP00000455997.2:p.Ile240Val
ENST00000642206.2:c.763A>G	ENSP00000495146.2:p.Ile255Val
ENST00000642365.2:c.718A>G	ENSP00000495459.2:p.Ile240Val
ENST00000642561.1:c.718A>G	ENSP00000495099.1:p.Ile240Val
ENST00000642797.1:c.718A>G	ENSP00000493846.1:p.Ile240Val
ENST00000642812.1:n.763A>G
ENST00000642936.1:c.718A>G	ENSP00000494514.1:p.Ile240Val
ENST00000643088.1:c.718A>G	ENSP00000494747.1:p.Ile240Val
ENST00000643149.1:n.1671A>G
ENST00000643298.1:c.*220A>G	ENSP00000494393.1:n.*220A>G
ENST00000643745.1:c.718A>G	ENSP00000495948.1:p.Ile240Val
ENST00000643946.1:c.718A>G	ENSP00000495927.1:p.Ile240Val
ENST00000644043.1:c.718A>G	ENSP00000496262.1:p.Ile240Val
ENST00000644135.1:c.718A>G	ENSP00000495644.1:p.Ile240Val
ENST00000644222.1:n.805A>G
ENST00000644329.1:c.718A>G	ENSP00000496611.1:p.Ile240Val
ENST00000644335.1:c.718A>G	ENSP00000496317.1:p.Ile240Val
ENST00000644399.1:c.711A>G
ENST00000644417.1:c.416A>G	ENSP00000493912.1:n.416A>G
ENST00000644417.2:c.*155A>G	ENSP00000493912.2:n.*155A>G
ENST00000644665.1:n.835A>G
ENST00000645591.1:n.1689A>G
ENST00000646388.1:c.718A>G	ENSP00000495921.1:p.Ile240Val
ENST00000646464.2:c.*323A>G	ENSP00000496610.2:n.*323A>G
ENST00000646823.1:n.1106A>G
ENST00000647234.1:n.1419A>G
ENST00000647242.1:n.1386A>G
XM_005255529.3:c.718A>G	XP_005255586.2:p.Ile240Val
XM_005255531.3:c.718A>G	XP_005255588.2:p.Ile240Val
XM_005255531.4:c.718A>G	XP_005255588.2:p.Ile240Val
XM_011522636.1:c.718A>G	XP_011520938.1:p.Ile240Val
XM_011522636.2:c.718A>G	XP_011520938.1:p.Ile240Val
XM_011522637.1:c.718A>G	XP_011520939.1:p.Ile240Val
XM_011522637.2:c.718A>G	XP_011520939.1:p.Ile240Val
XM_011522638.1:c.607A>G	XP_011520940.1:p.Ile203Val
XM_011522638.2:c.880A>G	XP_011520940.2:p.Ile294Val
XM_011522639.1:c.718A>G	XP_011520941.1:p.Ile240Val
XM_011522639.2:c.718A>G	XP_011520941.1:p.Ile240Val
XM_011522640.1:c.718A>G	XP_011520942.1:p.Ile240Val
XM_011522640.2:c.718A>G	XP_011520942.1:p.Ile240Val
XM_011522641.1:c.607A>G	XP_011520943.1:p.Ile203Val
XM_017023615.1:c.718A>G	XP_016879104.1:p.Ile240Val
XM_017023616.1:c.718A>G	XP_016879105.1:p.Ile240Val
XM_017023617.1:c.880A>G	XP_016879106.1:p.Ile294Val
XM_017023618.1:c.-714A>G	XP_016879107.1:n.-714A>G
XM_024450413.1:c.718A>G	XP_024306181.1:p.Ile240Val