Canonical Allele Identifier: CA019910

Gene: TSC2

Linked Data

• ClinVar Variation Id: 65003
• ClinVar RCV Id: RCV000055207 ; RCV002513717
• dbSNP Id: rs397514997
• MyVariant Identifiers: chr16:g.2134301G>T (hg19) ; chr16:g.2084300G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084300G>T , CM000678.2:g.2084300G>T	GRCh38
NC_000016.9:g.2134301G>T , CM000678.1:g.2134301G>T	GRCh37
NC_000016.8:g.2074302G>T	NCBI36
NG_005895.1:g.39995G>T , LRG_487:g.39995G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2427G>T	ENSP00000455997.2:n.*2427G>T
ENST00000642206.2:c.3925G>T	ENSP00000495146.2:p.Glu1309Ter
ENST00000642365.2:c.4075G>T	ENSP00000495459.2:p.Glu1359Ter
ENST00000644417.2:c.*4458G>T	ENSP00000493912.2:n.*4458G>T
ENST00000646464.2:c.*6827G>T	ENSP00000496610.2:n.*6827G>T
ENST00000219476.9:c.4078G>T MANE Select	ENSP00000219476.3:p.Glu1360Ter
ENST00000350773.9:c.4009G>T	ENSP00000344383.4:p.Glu1337Ter
ENST00000401874.7:c.3877G>T	ENSP00000384468.2:p.Glu1293Ter
ENST00000568454.6:c.3910G>T	ENSP00000454487.1:p.Glu1304Ter
ENST00000569110.2:c.314G>T
ENST00000569930.2:n.1960G>T
ENST00000642365.1:c.2732G>T
ENST00000642561.1:c.3949G>T	ENSP00000495099.1:p.Glu1317Ter
ENST00000642728.1:n.260G>T
ENST00000642797.1:c.3880G>T	ENSP00000493846.1:p.Glu1294Ter
ENST00000642936.1:c.3946G>T	ENSP00000494514.1:p.Glu1316Ter
ENST00000643088.1:c.3877G>T	ENSP00000494747.1:p.Glu1293Ter
ENST00000643177.1:n.92G>T
ENST00000643426.1:n.1726G>T
ENST00000643946.1:c.4009G>T	ENSP00000495927.1:p.Glu1337Ter
ENST00000644043.1:c.3949G>T	ENSP00000496262.1:p.Glu1317Ter
ENST00000644329.1:c.3877G>T	ENSP00000496611.1:p.Glu1293Ter
ENST00000644335.1:c.3880G>T	ENSP00000496317.1:p.Glu1294Ter
ENST00000644399.1:c.3999G>T
ENST00000645024.1:n.2162G>T
ENST00000645186.1:c.321G>T
ENST00000646388.1:c.4078G>T	ENSP00000495921.1:p.Glu1360Ter
ENST00000646634.1:n.2893G>T
ENST00000646674.1:n.1330G>T
ENST00000647042.1:n.1301G>T
ENST00000647180.1:n.1191G>T
ENST00000219476.7:c.4078G>T	ENSP00000219476.3:p.Glu1360Ter
ENST00000350773.8:c.4009G>T	ENSP00000344383.4:p.Glu1337Ter
ENST00000382538.10:c.3733G>T	ENSP00000371978.6:p.Glu1245Ter
ENST00000401874.6:c.3877G>T	ENSP00000384468.2:p.Glu1293Ter
ENST00000439117.6:c.*3245G>T	ENSP00000406980.2:n.*3245G>T
ENST00000439673.6:c.3769G>T	ENSP00000399232.2:p.Glu1257Ter
ENST00000497886.5:n.1836G>T
ENST00000568454.5:c.3910G>T	ENSP00000454487.1:p.Glu1304Ter
ENST00000569110.1:c.260G>T
ENST00000569930.1:n.1193G>T
NM_000548.3:c.4078G>T , LRG_487t1:c.4078G>T	NP_000539.2:p.Glu1360Ter
NM_001077183.1:c.3877G>T	NP_001070651.1:p.Glu1293Ter
NM_001114382.1:c.4009G>T	NP_001107854.1:p.Glu1337Ter
XM_005255529.3:c.3949G>T	XP_005255586.2:p.Glu1317Ter
XM_005255531.3:c.3880G>T	XP_005255588.2:p.Glu1294Ter
XM_011522636.1:c.4132G>T	XP_011520938.1:p.Glu1378Ter
XM_011522637.1:c.4129G>T	XP_011520939.1:p.Glu1377Ter
XM_011522638.1:c.4021G>T	XP_011520940.1:p.Glu1341Ter
XM_011522639.1:c.4003G>T	XP_011520941.1:p.Glu1335Ter
XM_011522640.1:c.4000G>T	XP_011520942.1:p.Glu1334Ter
XM_011522641.1:c.3769G>T	XP_011520943.1:p.Glu1257Ter
NM_000548.4:c.4078G>T	NP_000539.2:p.Glu1360Ter
NM_001077183.2:c.3877G>T	NP_001070651.1:p.Glu1293Ter
NM_001114382.2:c.4009G>T	NP_001107854.1:p.Glu1337Ter
NM_001318827.1:c.3769G>T	NP_001305756.1:p.Glu1257Ter
NM_001318829.1:c.3733G>T	NP_001305758.1:p.Glu1245Ter
NM_001318831.1:c.3346G>T	NP_001305760.1:p.Glu1116Ter
NM_001318832.1:c.3910G>T	NP_001305761.1:p.Glu1304Ter
NM_001363528.1:c.3880G>T	NP_001350457.1:p.Glu1294Ter
NM_021055.2:c.3949G>T	NP_066399.2:p.Glu1317Ter
XM_005255531.4:c.3880G>T	XP_005255588.2:p.Glu1294Ter
XM_011522636.2:c.4132G>T	XP_011520938.1:p.Glu1378Ter
XM_011522637.2:c.4129G>T	XP_011520939.1:p.Glu1377Ter
XM_011522638.2:c.4294G>T	XP_011520940.2:p.Glu1432Ter
XM_011522639.2:c.4003G>T	XP_011520941.1:p.Glu1335Ter
XM_011522640.2:c.4000G>T	XP_011520942.1:p.Glu1334Ter
XM_017023615.1:c.4075G>T	XP_016879104.1:p.Glu1359Ter
XM_017023616.1:c.3946G>T	XP_016879105.1:p.Glu1316Ter
XM_017023617.1:c.4042G>T	XP_016879106.1:p.Glu1348Ter
XM_017023618.1:c.2788G>T	XP_016879107.1:p.Glu930Ter
XM_024450413.1:c.3877G>T	XP_024306181.1:p.Glu1293Ter
NM_000548.5:c.4078G>T MANE Select	NP_000539.2:p.Glu1360Ter
NM_001370404.1:c.3946G>T	NP_001357333.1:p.Glu1316Ter
NM_001370405.1:c.3949G>T	NP_001357334.1:p.Glu1317Ter
NM_001077183.3:c.3877G>T	NP_001070651.1:p.Glu1293Ter
NM_001114382.3:c.4009G>T	NP_001107854.1:p.Glu1337Ter
NM_001318827.2:c.3769G>T	NP_001305756.1:p.Glu1257Ter
NM_001318829.2:c.3733G>T	NP_001305758.1:p.Glu1245Ter
NM_001318831.2:c.3346G>T	NP_001305760.1:p.Glu1116Ter
NM_001318832.2:c.3910G>T	NP_001305761.1:p.Glu1304Ter
NM_001363528.2:c.3880G>T	NP_001350457.1:p.Glu1294Ter
NM_021055.3:c.3949G>T	NP_066399.2:p.Glu1317Ter