Canonical Allele Identifier: CA492956580

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2083756A>G , CM000678.2:g.2083756A>G	GRCh38
NC_000016.9:g.2133757A>G , CM000678.1:g.2133757A>G	GRCh37
NC_000016.8:g.2073758A>G	NCBI36
NG_005895.1:g.39451A>G , LRG_487:g.39451A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.3945A>G MANE Select	NP_000539.2:p.Pro1315=
ENST00000219476.9:c.3945A>G MANE Select	ENSP00000219476.3:p.Pro1315=
NM_000548.3:c.3945A>G , LRG_487t1:c.3945A>G	NP_000539.2:p.Pro1315=
NM_000548.4:c.3945A>G	NP_000539.2:p.Pro1315=
NM_001077183.1:c.3744A>G	NP_001070651.1:p.Pro1248=
NM_001077183.2:c.3744A>G	NP_001070651.1:p.Pro1248=
NM_001077183.3:c.3744A>G	NP_001070651.1:p.Pro1248=
NM_001114382.1:c.3876A>G	NP_001107854.1:p.Pro1292=
NM_001114382.2:c.3876A>G	NP_001107854.1:p.Pro1292=
NM_001114382.3:c.3876A>G	NP_001107854.1:p.Pro1292=
NM_001318827.1:c.3636A>G	NP_001305756.1:p.Pro1212=
NM_001318827.2:c.3636A>G	NP_001305756.1:p.Pro1212=
NM_001318829.1:c.3600A>G	NP_001305758.1:p.Pro1200=
NM_001318829.2:c.3600A>G	NP_001305758.1:p.Pro1200=
NM_001318831.1:c.3213A>G	NP_001305760.1:p.Pro1071=
NM_001318831.2:c.3213A>G	NP_001305760.1:p.Pro1071=
NM_001318832.1:c.3777A>G	NP_001305761.1:p.Pro1259=
NM_001318832.2:c.3777A>G	NP_001305761.1:p.Pro1259=
NM_001363528.1:c.3747A>G	NP_001350457.1:p.Pro1249=
NM_001363528.2:c.3747A>G	NP_001350457.1:p.Pro1249=
NM_001370404.1:c.3813A>G	NP_001357333.1:p.Pro1271=
NM_001370405.1:c.3816A>G	NP_001357334.1:p.Pro1272=
NM_021055.2:c.3816A>G	NP_066399.2:p.Pro1272=
NM_021055.3:c.3816A>G	NP_066399.2:p.Pro1272=
ENST00000219476.7:c.3945A>G	ENSP00000219476.3:p.Pro1315=
ENST00000350773.8:c.3876A>G	ENSP00000344383.4:p.Pro1292=
ENST00000350773.9:c.3876A>G	ENSP00000344383.4:p.Pro1292=
ENST00000382538.10:c.3600A>G	ENSP00000371978.6:p.Pro1200=
ENST00000401874.6:c.3744A>G	ENSP00000384468.2:p.Pro1248=
ENST00000401874.7:c.3744A>G	ENSP00000384468.2:p.Pro1248=
ENST00000439117.6:c.*3112A>G	ENSP00000406980.2:n.*3112A>G
ENST00000439673.6:c.3636A>G	ENSP00000399232.2:p.Pro1212=
ENST00000497886.5:n.1703A>G
ENST00000568454.5:c.3777A>G	ENSP00000454487.1:p.Pro1259=
ENST00000568454.6:c.3777A>G	ENSP00000454487.1:p.Pro1259=
ENST00000568566.6:c.*2294A>G	ENSP00000455997.2:n.*2294A>G
ENST00000569110.1:c.127A>G
ENST00000569110.2:c.181A>G
ENST00000569930.1:n.1060A>G
ENST00000569930.2:n.1827A>G
ENST00000642206.2:c.3792A>G	ENSP00000495146.2:p.Pro1264=
ENST00000642365.1:c.2599A>G
ENST00000642365.2:c.3942A>G	ENSP00000495459.2:p.Pro1314=
ENST00000642561.1:c.3816A>G	ENSP00000495099.1:p.Pro1272=
ENST00000642728.1:n.127A>G
ENST00000642797.1:c.3747A>G	ENSP00000493846.1:p.Pro1249=
ENST00000642936.1:c.3813A>G	ENSP00000494514.1:p.Pro1271=
ENST00000643088.1:c.3744A>G	ENSP00000494747.1:p.Pro1248=
ENST00000643426.1:n.1593A>G
ENST00000643533.1:n.386A>G
ENST00000643946.1:c.3876A>G	ENSP00000495927.1:p.Pro1292=
ENST00000644043.1:c.3816A>G	ENSP00000496262.1:p.Pro1272=
ENST00000644329.1:c.3744A>G	ENSP00000496611.1:p.Pro1248=
ENST00000644335.1:c.3747A>G	ENSP00000496317.1:p.Pro1249=
ENST00000644399.1:c.3866A>G
ENST00000644417.2:c.*4325A>G	ENSP00000493912.2:n.*4325A>G
ENST00000645024.1:n.2029A>G
ENST00000645186.1:c.188A>G
ENST00000646388.1:c.3945A>G	ENSP00000495921.1:p.Pro1315=
ENST00000646464.2:c.*6694A>G	ENSP00000496610.2:n.*6694A>G
ENST00000646634.1:n.2760A>G
ENST00000646674.1:n.1197A>G
ENST00000647042.1:n.1168A>G
ENST00000647180.1:n.1058A>G
XM_005255529.3:c.3816A>G	XP_005255586.2:p.Pro1272=
XM_005255531.3:c.3747A>G	XP_005255588.2:p.Pro1249=
XM_005255531.4:c.3747A>G	XP_005255588.2:p.Pro1249=
XM_011522636.1:c.3999A>G	XP_011520938.1:p.Pro1333=
XM_011522636.2:c.3999A>G	XP_011520938.1:p.Pro1333=
XM_011522637.1:c.3996A>G	XP_011520939.1:p.Pro1332=
XM_011522637.2:c.3996A>G	XP_011520939.1:p.Pro1332=
XM_011522638.1:c.3888A>G	XP_011520940.1:p.Pro1296=
XM_011522638.2:c.4161A>G	XP_011520940.2:p.Pro1387=
XM_011522639.1:c.3870A>G	XP_011520941.1:p.Pro1290=
XM_011522639.2:c.3870A>G	XP_011520941.1:p.Pro1290=
XM_011522640.1:c.3867A>G	XP_011520942.1:p.Pro1289=
XM_011522640.2:c.3867A>G	XP_011520942.1:p.Pro1289=
XM_011522641.1:c.3636A>G	XP_011520943.1:p.Pro1212=
XM_017023615.1:c.3942A>G	XP_016879104.1:p.Pro1314=
XM_017023616.1:c.3813A>G	XP_016879105.1:p.Pro1271=
XM_017023617.1:c.3909A>G	XP_016879106.1:p.Pro1303=
XM_017023618.1:c.2655A>G	XP_016879107.1:p.Pro885=
XM_024450413.1:c.3744A>G	XP_024306181.1:p.Pro1248=