Canonical Allele Identifier: CA319371

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079646G>A , CM000678.2:g.2079646G>A	GRCh38
NC_000016.9:g.2129647G>A , CM000678.1:g.2129647G>A	GRCh37
NC_000016.8:g.2069648G>A	NCBI36
NG_005895.1:g.35341G>A , LRG_487:g.35341G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000548.5:c.3374G>A MANE Select	NP_000539.2:p.Arg1125Gln
ENST00000219476.9:c.3374G>A MANE Select	ENSP00000219476.3:p.Arg1125Gln
NM_000548.3:c.3374G>A , LRG_487t1:c.3374G>A	NP_000539.2:p.Arg1125Gln
NM_000548.4:c.3374G>A	NP_000539.2:p.Arg1125Gln
NM_001077183.1:c.3242G>A	NP_001070651.1:p.Arg1081Gln
NM_001077183.2:c.3242G>A	NP_001070651.1:p.Arg1081Gln
NM_001077183.3:c.3242G>A	NP_001070651.1:p.Arg1081Gln
NM_001114382.1:c.3374G>A	NP_001107854.1:p.Arg1125Gln
NM_001114382.2:c.3374G>A	NP_001107854.1:p.Arg1125Gln
NM_001114382.3:c.3374G>A	NP_001107854.1:p.Arg1125Gln
NM_001318827.1:c.3134G>A	NP_001305756.1:p.Arg1045Gln
NM_001318827.2:c.3134G>A	NP_001305756.1:p.Arg1045Gln
NM_001318829.1:c.3098G>A	NP_001305758.1:p.Arg1033Gln
NM_001318829.2:c.3098G>A	NP_001305758.1:p.Arg1033Gln
NM_001318831.1:c.2642G>A	NP_001305760.1:p.Arg881Gln
NM_001318831.2:c.2642G>A	NP_001305760.1:p.Arg881Gln
NM_001318832.1:c.3275G>A	NP_001305761.1:p.Arg1092Gln
NM_001318832.2:c.3275G>A	NP_001305761.1:p.Arg1092Gln
NM_001363528.1:c.3245G>A	NP_001350457.1:p.Arg1082Gln
NM_001363528.2:c.3245G>A	NP_001350457.1:p.Arg1082Gln
NM_001370404.1:c.3242G>A	NP_001357333.1:p.Arg1081Gln
NM_001370405.1:c.3245G>A	NP_001357334.1:p.Arg1082Gln
NM_021055.2:c.3245G>A	NP_066399.2:p.Arg1082Gln
NM_021055.3:c.3245G>A	NP_066399.2:p.Arg1082Gln
ENST00000219476.7:c.3374G>A	ENSP00000219476.3:p.Arg1125Gln
ENST00000350773.8:c.3374G>A	ENSP00000344383.4:p.Arg1125Gln
ENST00000350773.9:c.3374G>A	ENSP00000344383.4:p.Arg1125Gln
ENST00000382538.10:c.3098G>A	ENSP00000371978.6:p.Arg1033Gln
ENST00000401874.6:c.3242G>A	ENSP00000384468.2:p.Arg1081Gln
ENST00000401874.7:c.3242G>A	ENSP00000384468.2:p.Arg1081Gln
ENST00000439117.6:c.*2541G>A	ENSP00000406980.2:n.*2541G>A
ENST00000439673.6:c.3134G>A	ENSP00000399232.2:p.Arg1045Gln
ENST00000497886.5:n.1201G>A
ENST00000568366.5:n.731G>A
ENST00000568454.5:c.3275G>A	ENSP00000454487.1:p.Arg1092Gln
ENST00000568454.6:c.3275G>A	ENSP00000454487.1:p.Arg1092Gln
ENST00000568566.6:c.*1792G>A	ENSP00000455997.2:n.*1792G>A
ENST00000642206.2:c.3290G>A	ENSP00000495146.2:p.Arg1097Gln
ENST00000642365.1:c.2028G>A
ENST00000642365.2:c.3371G>A	ENSP00000495459.2:p.Arg1124Gln
ENST00000642561.1:c.3245G>A	ENSP00000495099.1:p.Arg1082Gln
ENST00000642797.1:c.3245G>A	ENSP00000493846.1:p.Arg1082Gln
ENST00000642936.1:c.3242G>A	ENSP00000494514.1:p.Arg1081Gln
ENST00000643088.1:c.3242G>A	ENSP00000494747.1:p.Arg1081Gln
ENST00000643946.1:c.3374G>A	ENSP00000495927.1:p.Arg1125Gln
ENST00000644043.1:c.3245G>A	ENSP00000496262.1:p.Arg1082Gln
ENST00000644329.1:c.3242G>A	ENSP00000496611.1:p.Arg1081Gln
ENST00000644335.1:c.3245G>A	ENSP00000496317.1:p.Arg1082Gln
ENST00000644399.1:c.3364G>A
ENST00000644417.2:c.*3823G>A	ENSP00000493912.2:n.*3823G>A
ENST00000644722.1:n.520G>A
ENST00000645024.1:n.1527G>A
ENST00000646388.1:c.3374G>A	ENSP00000495921.1:p.Arg1125Gln
ENST00000646464.2:c.*4296G>A	ENSP00000496610.2:n.*4296G>A
ENST00000646634.1:n.2258G>A
ENST00000647042.1:n.666G>A
XM_005255529.3:c.3245G>A	XP_005255586.2:p.Arg1082Gln
XM_005255531.3:c.3245G>A	XP_005255588.2:p.Arg1082Gln
XM_005255531.4:c.3245G>A	XP_005255588.2:p.Arg1082Gln
XM_011522636.1:c.3374G>A	XP_011520938.1:p.Arg1125Gln
XM_011522636.2:c.3374G>A	XP_011520938.1:p.Arg1125Gln
XM_011522637.1:c.3371G>A	XP_011520939.1:p.Arg1124Gln
XM_011522637.2:c.3371G>A	XP_011520939.1:p.Arg1124Gln
XM_011522638.1:c.3263G>A	XP_011520940.1:p.Arg1088Gln
XM_011522638.2:c.3536G>A	XP_011520940.2:p.Arg1179Gln
XM_011522639.1:c.3245G>A	XP_011520941.1:p.Arg1082Gln
XM_011522639.2:c.3245G>A	XP_011520941.1:p.Arg1082Gln
XM_011522640.1:c.3242G>A	XP_011520942.1:p.Arg1081Gln
XM_011522640.2:c.3242G>A	XP_011520942.1:p.Arg1081Gln
XM_011522641.1:c.3134G>A	XP_011520943.1:p.Arg1045Gln
XM_017023615.1:c.3371G>A	XP_016879104.1:p.Arg1124Gln
XM_017023616.1:c.3242G>A	XP_016879105.1:p.Arg1081Gln
XM_017023617.1:c.3407G>A	XP_016879106.1:p.Arg1136Gln
XM_017023618.1:c.2030G>A	XP_016879107.1:p.Arg677Gln
XM_024450413.1:c.3242G>A	XP_024306181.1:p.Arg1081Gln