Canonical Allele Identifier: CA394301349

Gene: TSC2

Linked Data

• ClinVar Variation Id: 427995
• ClinVar RCV Id: RCV000491994 ; RCV003512050
• dbSNP Id: rs45469392
• MyVariant Identifiers: chr16:g.2134547G>T (hg19) ; chr16:g.2084546G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084546G>T , CM000678.2:g.2084546G>T	GRCh38
NC_000016.9:g.2134547G>T , CM000678.1:g.2134547G>T	GRCh37
NC_000016.8:g.2074548G>T	NCBI36
NG_005895.1:g.40241G>T , LRG_487:g.40241G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2673G>T	ENSP00000455997.2:n.*2673G>T
ENST00000642206.2:c.4171G>T	ENSP00000495146.2:p.Glu1391Ter
ENST00000642365.2:c.4321G>T	ENSP00000495459.2:p.Glu1441Ter
ENST00000644417.2:c.*4704G>T	ENSP00000493912.2:n.*4704G>T
ENST00000646464.2:c.*7073G>T	ENSP00000496610.2:n.*7073G>T
ENST00000219476.9:c.4324G>T MANE Select	ENSP00000219476.3:p.Glu1442Ter
ENST00000350773.9:c.4255G>T	ENSP00000344383.4:p.Glu1419Ter
ENST00000401874.7:c.4123G>T	ENSP00000384468.2:p.Glu1375Ter
ENST00000568454.6:c.4156G>T	ENSP00000454487.1:p.Glu1386Ter
ENST00000569110.2:c.560G>T
ENST00000569930.2:n.2206G>T
ENST00000642365.1:c.2978G>T
ENST00000642561.1:c.4195G>T	ENSP00000495099.1:p.Glu1399Ter
ENST00000642728.1:n.506G>T
ENST00000642797.1:c.4126G>T	ENSP00000493846.1:p.Glu1376Ter
ENST00000642936.1:c.4192G>T	ENSP00000494514.1:p.Glu1398Ter
ENST00000643088.1:c.4123G>T	ENSP00000494747.1:p.Glu1375Ter
ENST00000643177.1:n.338G>T
ENST00000643426.1:n.1972G>T
ENST00000643946.1:c.4255G>T	ENSP00000495927.1:p.Glu1419Ter
ENST00000644043.1:c.4195G>T	ENSP00000496262.1:p.Glu1399Ter
ENST00000644329.1:c.4123G>T	ENSP00000496611.1:p.Glu1375Ter
ENST00000644335.1:c.4126G>T	ENSP00000496317.1:p.Glu1376Ter
ENST00000644399.1:c.4245G>T
ENST00000645024.1:n.2408G>T
ENST00000646388.1:c.4324G>T	ENSP00000495921.1:p.Glu1442Ter
ENST00000646634.1:n.3139G>T
ENST00000646674.1:n.1576G>T
ENST00000647042.1:n.1547G>T
ENST00000647180.1:n.1437G>T
ENST00000219476.7:c.4324G>T	ENSP00000219476.3:p.Glu1442Ter
ENST00000350773.8:c.4255G>T	ENSP00000344383.4:p.Glu1419Ter
ENST00000382538.10:c.3979G>T	ENSP00000371978.6:p.Glu1327Ter
ENST00000401874.6:c.4123G>T	ENSP00000384468.2:p.Glu1375Ter
ENST00000439117.6:c.*3491G>T	ENSP00000406980.2:n.*3491G>T
ENST00000439673.6:c.4015G>T	ENSP00000399232.2:p.Glu1339Ter
ENST00000497886.5:n.2082G>T
ENST00000568454.5:c.4156G>T	ENSP00000454487.1:p.Glu1386Ter
ENST00000569110.1:c.506G>T
ENST00000569930.1:n.1439G>T
NM_000548.3:c.4324G>T , LRG_487t1:c.4324G>T	NP_000539.2:p.Glu1442Ter
NM_001077183.1:c.4123G>T	NP_001070651.1:p.Glu1375Ter
NM_001114382.1:c.4255G>T	NP_001107854.1:p.Glu1419Ter
XM_005255529.3:c.4195G>T	XP_005255586.2:p.Glu1399Ter
XM_005255531.3:c.4126G>T	XP_005255588.2:p.Glu1376Ter
XM_011522636.1:c.4378G>T	XP_011520938.1:p.Glu1460Ter
XM_011522637.1:c.4375G>T	XP_011520939.1:p.Glu1459Ter
XM_011522638.1:c.4267G>T	XP_011520940.1:p.Glu1423Ter
XM_011522639.1:c.4249G>T	XP_011520941.1:p.Glu1417Ter
XM_011522640.1:c.4246G>T	XP_011520942.1:p.Glu1416Ter
XM_011522641.1:c.4015G>T	XP_011520943.1:p.Glu1339Ter
NM_000548.4:c.4324G>T	NP_000539.2:p.Glu1442Ter
NM_001077183.2:c.4123G>T	NP_001070651.1:p.Glu1375Ter
NM_001114382.2:c.4255G>T	NP_001107854.1:p.Glu1419Ter
NM_001318827.1:c.4015G>T	NP_001305756.1:p.Glu1339Ter
NM_001318829.1:c.3979G>T	NP_001305758.1:p.Glu1327Ter
NM_001318831.1:c.3592G>T	NP_001305760.1:p.Glu1198Ter
NM_001318832.1:c.4156G>T	NP_001305761.1:p.Glu1386Ter
NM_001363528.1:c.4126G>T	NP_001350457.1:p.Glu1376Ter
NM_021055.2:c.4195G>T	NP_066399.2:p.Glu1399Ter
XM_005255531.4:c.4126G>T	XP_005255588.2:p.Glu1376Ter
XM_011522636.2:c.4378G>T	XP_011520938.1:p.Glu1460Ter
XM_011522637.2:c.4375G>T	XP_011520939.1:p.Glu1459Ter
XM_011522638.2:c.4540G>T	XP_011520940.2:p.Glu1514Ter
XM_011522639.2:c.4249G>T	XP_011520941.1:p.Glu1417Ter
XM_011522640.2:c.4246G>T	XP_011520942.1:p.Glu1416Ter
XM_017023615.1:c.4321G>T	XP_016879104.1:p.Glu1441Ter
XM_017023616.1:c.4192G>T	XP_016879105.1:p.Glu1398Ter
XM_017023617.1:c.4288G>T	XP_016879106.1:p.Glu1430Ter
XM_017023618.1:c.3034G>T	XP_016879107.1:p.Glu1012Ter
XM_024450413.1:c.4123G>T	XP_024306181.1:p.Glu1375Ter
NM_000548.5:c.4324G>T MANE Select	NP_000539.2:p.Glu1442Ter
NM_001370404.1:c.4192G>T	NP_001357333.1:p.Glu1398Ter
NM_001370405.1:c.4195G>T	NP_001357334.1:p.Glu1399Ter
NM_001077183.3:c.4123G>T	NP_001070651.1:p.Glu1375Ter
NM_001114382.3:c.4255G>T	NP_001107854.1:p.Glu1419Ter
NM_001318827.2:c.4015G>T	NP_001305756.1:p.Glu1339Ter
NM_001318829.2:c.3979G>T	NP_001305758.1:p.Glu1327Ter
NM_001318831.2:c.3592G>T	NP_001305760.1:p.Glu1198Ter
NM_001318832.2:c.4156G>T	NP_001305761.1:p.Glu1386Ter
NM_001363528.2:c.4126G>T	NP_001350457.1:p.Glu1376Ter
NM_021055.3:c.4195G>T	NP_066399.2:p.Glu1399Ter