Canonical Allele Identifier: CA658658370

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2071886_2071887delinsTC , CM000678.2:g.2071886_2071887delinsTC	GRCh38
NC_000016.9:g.2121887_2121888delinsTC , CM000678.1:g.2121887_2121888delinsTC	GRCh37
NC_000016.8:g.2061888_2061889delinsTC	NCBI36
NG_005895.1:g.27581_27582delinsTC , LRG_487:g.27581_27582delinsTC

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.2049_2050delinsTC MANE Select	NP_000539.2:p.Val684Leu
ENST00000219476.9:c.2049_2050delinsTC MANE Select	ENSP00000219476.3:p.Val684Leu
NM_000548.3:c.2049_2050delinsTC , LRG_487t1:c.2049_2050delinsTC	NP_000539.2:p.Val684Leu
NM_000548.4:c.2049_2050delinsTC	NP_000539.2:p.Val684Leu
NM_001077183.1:c.2049_2050delinsTC	NP_001070651.1:p.Val684Leu
NM_001077183.2:c.2049_2050delinsTC	NP_001070651.1:p.Val684Leu
NM_001077183.3:c.2049_2050delinsTC	NP_001070651.1:p.Val684Leu
NM_001114382.1:c.2049_2050delinsTC	NP_001107854.1:p.Val684Leu
NM_001114382.2:c.2049_2050delinsTC	NP_001107854.1:p.Val684Leu
NM_001114382.3:c.2049_2050delinsTC	NP_001107854.1:p.Val684Leu
NM_001318827.1:c.1938_1939delinsTC	NP_001305756.1:p.Val647Leu
NM_001318827.2:c.1938_1939delinsTC	NP_001305756.1:p.Val647Leu
NM_001318829.1:c.1902_1903delinsTC	NP_001305758.1:p.Val635Leu
NM_001318829.2:c.1902_1903delinsTC	NP_001305758.1:p.Val635Leu
NM_001318831.1:c.1449_1450delinsTC	NP_001305760.1:p.Val484Leu
NM_001318831.2:c.1449_1450delinsTC	NP_001305760.1:p.Val484Leu
NM_001318832.1:c.2082_2083delinsTC	NP_001305761.1:p.Val695Leu
NM_001318832.2:c.2082_2083delinsTC	NP_001305761.1:p.Val695Leu
NM_001363528.1:c.2049_2050delinsTC	NP_001350457.1:p.Val684Leu
NM_001363528.2:c.2049_2050delinsTC	NP_001350457.1:p.Val684Leu
NM_001370404.1:c.2049_2050delinsTC	NP_001357333.1:p.Val684Leu
NM_001370405.1:c.2049_2050delinsTC	NP_001357334.1:p.Val684Leu
NM_021055.2:c.2049_2050delinsTC	NP_066399.2:p.Val684Leu
NM_021055.3:c.2049_2050delinsTC	NP_066399.2:p.Val684Leu
ENST00000219476.7:c.2049_2050delinsTC	ENSP00000219476.3:p.Val684Leu
ENST00000350773.8:c.2049_2050delinsTC	ENSP00000344383.4:p.Val684Leu
ENST00000350773.9:c.2049_2050delinsTC	ENSP00000344383.4:p.Val684Leu
ENST00000382538.10:c.1902_1903delinsTC	ENSP00000371978.6:p.Val635Leu
ENST00000401874.6:c.2049_2050delinsTC	ENSP00000384468.2:p.Val684Leu
ENST00000401874.7:c.2049_2050delinsTC	ENSP00000384468.2:p.Val684Leu
ENST00000439117.6:c.*1348_*1349delinsTC	ENSP00000406980.2:n.*1348_*1349delinsTC
ENST00000439673.6:c.1938_1939delinsTC	ENSP00000399232.2:p.Val647Leu
ENST00000488675.5:n.556_557delinsTC
ENST00000563346.1:n.118_119delinsTC
ENST00000563346.2:n.227_228delinsTC
ENST00000568454.5:c.2082_2083delinsTC	ENSP00000454487.1:p.Val695Leu
ENST00000568454.6:c.2082_2083delinsTC	ENSP00000454487.1:p.Val695Leu
ENST00000568566.6:c.*596_*597delinsTC	ENSP00000455997.2:n.*596_*597delinsTC
ENST00000642206.2:c.2094_2095delinsTC	ENSP00000495146.2:p.Val699Leu
ENST00000642365.1:c.706_707delinsTC
ENST00000642365.2:c.2049_2050delinsTC	ENSP00000495459.2:p.Val684Leu
ENST00000642561.1:c.2049_2050delinsTC	ENSP00000495099.1:p.Val684Leu
ENST00000642797.1:c.2049_2050delinsTC	ENSP00000493846.1:p.Val684Leu
ENST00000642936.1:c.2049_2050delinsTC	ENSP00000494514.1:p.Val684Leu
ENST00000643088.1:c.2049_2050delinsTC	ENSP00000494747.1:p.Val684Leu
ENST00000643298.1:c.*1551_*1552delinsTC	ENSP00000494393.1:n.*1551_*1552delinsTC
ENST00000643946.1:c.2049_2050delinsTC	ENSP00000495927.1:p.Val684Leu
ENST00000644043.1:c.2049_2050delinsTC	ENSP00000496262.1:p.Val684Leu
ENST00000644329.1:c.2049_2050delinsTC	ENSP00000496611.1:p.Val684Leu
ENST00000644335.1:c.2049_2050delinsTC	ENSP00000496317.1:p.Val684Leu
ENST00000644399.1:c.2042_2043delinsTC
ENST00000644417.2:c.*1486_*1487delinsTC	ENSP00000493912.2:n.*1486_*1487delinsTC
ENST00000644847.1:n.1041_1042delinsTC
ENST00000645024.1:n.331_332delinsTC
ENST00000645552.1:n.329_330delinsTC
ENST00000646388.1:c.2049_2050delinsTC	ENSP00000495921.1:p.Val684Leu
ENST00000646464.1:c.102_103delinsTC	ENSP00000496610.1:p.Val35Leu
ENST00000646464.2:c.*1654_*1655delinsTC	ENSP00000496610.2:n.*1654_*1655delinsTC
ENST00000646634.1:n.1062_1063delinsTC
XM_005255529.3:c.2049_2050delinsTC	XP_005255586.2:p.Val684Leu
XM_005255531.3:c.2049_2050delinsTC	XP_005255588.2:p.Val684Leu
XM_005255531.4:c.2049_2050delinsTC	XP_005255588.2:p.Val684Leu
XM_011522636.1:c.2049_2050delinsTC	XP_011520938.1:p.Val684Leu
XM_011522636.2:c.2049_2050delinsTC	XP_011520938.1:p.Val684Leu
XM_011522637.1:c.2049_2050delinsTC	XP_011520939.1:p.Val684Leu
XM_011522637.2:c.2049_2050delinsTC	XP_011520939.1:p.Val684Leu
XM_011522638.1:c.1938_1939delinsTC	XP_011520940.1:p.Val647Leu
XM_011522638.2:c.2211_2212delinsTC	XP_011520940.2:p.Val738Leu
XM_011522639.1:c.2049_2050delinsTC	XP_011520941.1:p.Val684Leu
XM_011522639.2:c.2049_2050delinsTC	XP_011520941.1:p.Val684Leu
XM_011522640.1:c.2049_2050delinsTC	XP_011520942.1:p.Val684Leu
XM_011522640.2:c.2049_2050delinsTC	XP_011520942.1:p.Val684Leu
XM_011522641.1:c.1938_1939delinsTC	XP_011520943.1:p.Val647Leu
XM_017023615.1:c.2049_2050delinsTC	XP_016879104.1:p.Val684Leu
XM_017023616.1:c.2049_2050delinsTC	XP_016879105.1:p.Val684Leu
XM_017023617.1:c.2211_2212delinsTC	XP_016879106.1:p.Val738Leu
XM_017023618.1:c.705_706delinsTC	XP_016879107.1:p.Val236Leu
XM_024450413.1:c.2049_2050delinsTC	XP_024306181.1:p.Val684Leu