Canonical Allele Identifier: CA021368

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49458
• ClinVar RCV Id: RCV000042718 ; RCV002514167 ; RCV001557106 ; RCV003224798
• dbSNP Id: rs45471896
• MyVariant Identifiers: chr16:g.2136826T>C (hg19) ; chr16:g.2086825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086825T>C , CM000678.2:g.2086825T>C	GRCh38
NC_000016.9:g.2136826T>C , CM000678.1:g.2136826T>C	GRCh37
NC_000016.8:g.2076827T>C	NCBI36
NG_005895.1:g.42520T>C , LRG_487:g.42520T>C
NG_008617.1:g.56396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3292T>C	ENSP00000455997.2:n.*3292T>C
ENST00000642206.2:c.4790T>C	ENSP00000495146.2:p.Ile1597Thr
ENST00000642365.2:c.4940T>C	ENSP00000495459.2:p.Ile1647Thr
ENST00000644417.2:c.*5456T>C	ENSP00000493912.2:n.*5456T>C
ENST00000646464.2:c.*7692T>C	ENSP00000496610.2:n.*7692T>C
ENST00000219476.9:c.4943T>C MANE Select	ENSP00000219476.3:p.Ile1648Thr
ENST00000350773.9:c.4874T>C	ENSP00000344383.4:p.Ile1625Thr
ENST00000401874.7:c.4742T>C	ENSP00000384468.2:p.Ile1581Thr
ENST00000568454.6:c.4775T>C	ENSP00000454487.1:p.Ile1592Thr
ENST00000569110.2:c.1166T>C
ENST00000569930.2:n.2825T>C
ENST00000642365.1:c.3597T>C
ENST00000642561.1:c.4814T>C	ENSP00000495099.1:p.Ile1605Thr
ENST00000642728.1:n.1125T>C
ENST00000642791.1:n.540T>C
ENST00000642797.1:c.4745T>C	ENSP00000493846.1:p.Ile1582Thr
ENST00000642936.1:c.4811T>C	ENSP00000494514.1:p.Ile1604Thr
ENST00000643088.1:c.4736T>C	ENSP00000494747.1:p.Ile1579Thr
ENST00000643177.1:n.957T>C
ENST00000643426.1:n.2591T>C
ENST00000643946.1:c.4868T>C	ENSP00000495927.1:p.Ile1623Thr
ENST00000644043.1:c.4814T>C	ENSP00000496262.1:p.Ile1605Thr
ENST00000644278.1:n.425T>C
ENST00000644329.1:c.4742T>C	ENSP00000496611.1:p.Ile1581Thr
ENST00000644335.1:c.4739T>C	ENSP00000496317.1:p.Ile1580Thr
ENST00000644399.1:c.4864T>C
ENST00000645024.1:n.3027T>C
ENST00000646388.1:c.4937T>C	ENSP00000495921.1:p.Ile1646Thr
ENST00000646557.1:n.104T>C
ENST00000646634.1:n.3758T>C
ENST00000646674.1:n.2195T>C
ENST00000647042.1:n.2166T>C
ENST00000647180.1:n.2056T>C
ENST00000219476.7:c.4943T>C	ENSP00000219476.3:p.Ile1648Thr
ENST00000350773.8:c.4874T>C	ENSP00000344383.4:p.Ile1625Thr
ENST00000382538.10:c.4598T>C	ENSP00000371978.6:p.Ile1533Thr
ENST00000401874.6:c.4742T>C	ENSP00000384468.2:p.Ile1581Thr
ENST00000439117.6:c.*4110T>C	ENSP00000406980.2:n.*4110T>C
ENST00000439673.6:c.4634T>C	ENSP00000399232.2:p.Ile1545Thr
ENST00000497886.5:n.2666T>C
ENST00000568454.5:c.4775T>C	ENSP00000454487.1:p.Ile1592Thr
ENST00000569110.1:c.1125T>C
ENST00000569930.1:n.2058T>C
NM_000548.3:c.4943T>C , LRG_487t1:c.4943T>C	NP_000539.2:p.Ile1648Thr
NM_001077183.1:c.4742T>C	NP_001070651.1:p.Ile1581Thr
NM_001114382.1:c.4874T>C	NP_001107854.1:p.Ile1625Thr
XM_005255529.3:c.4814T>C	XP_005255586.2:p.Ile1605Thr
XM_005255531.3:c.4745T>C	XP_005255588.2:p.Ile1582Thr
XM_011522636.1:c.4997T>C	XP_011520938.1:p.Ile1666Thr
XM_011522637.1:c.4994T>C	XP_011520939.1:p.Ile1665Thr
XM_011522638.1:c.4886T>C	XP_011520940.1:p.Ile1629Thr
XM_011522639.1:c.4868T>C	XP_011520941.1:p.Ile1623Thr
XM_011522640.1:c.4865T>C	XP_011520942.1:p.Ile1622Thr
XM_011522641.1:c.4634T>C	XP_011520943.1:p.Ile1545Thr
NM_000548.4:c.4943T>C	NP_000539.2:p.Ile1648Thr
NM_001077183.2:c.4742T>C	NP_001070651.1:p.Ile1581Thr
NM_001114382.2:c.4874T>C	NP_001107854.1:p.Ile1625Thr
NM_001318827.1:c.4634T>C	NP_001305756.1:p.Ile1545Thr
NM_001318829.1:c.4598T>C	NP_001305758.1:p.Ile1533Thr
NM_001318831.1:c.4211T>C	NP_001305760.1:p.Ile1404Thr
NM_001318832.1:c.4775T>C	NP_001305761.1:p.Ile1592Thr
NM_001363528.1:c.4745T>C	NP_001350457.1:p.Ile1582Thr
NM_021055.2:c.4814T>C	NP_066399.2:p.Ile1605Thr
XM_005255531.4:c.4745T>C	XP_005255588.2:p.Ile1582Thr
XM_011522636.2:c.4997T>C	XP_011520938.1:p.Ile1666Thr
XM_011522637.2:c.4994T>C	XP_011520939.1:p.Ile1665Thr
XM_011522638.2:c.5159T>C	XP_011520940.2:p.Ile1720Thr
XM_011522639.2:c.4868T>C	XP_011520941.1:p.Ile1623Thr
XM_011522640.2:c.4865T>C	XP_011520942.1:p.Ile1622Thr
XM_017023615.1:c.4940T>C	XP_016879104.1:p.Ile1647Thr
XM_017023616.1:c.4811T>C	XP_016879105.1:p.Ile1604Thr
XM_017023617.1:c.4907T>C	XP_016879106.1:p.Ile1636Thr
XM_017023618.1:c.3653T>C	XP_016879107.1:p.Ile1218Thr
XM_024450413.1:c.4742T>C	XP_024306181.1:p.Ile1581Thr
NM_000548.5:c.4943T>C MANE Select	NP_000539.2:p.Ile1648Thr
NM_001370404.1:c.4811T>C	NP_001357333.1:p.Ile1604Thr
NM_001370405.1:c.4814T>C	NP_001357334.1:p.Ile1605Thr
NM_001077183.3:c.4742T>C	NP_001070651.1:p.Ile1581Thr
NM_001114382.3:c.4874T>C	NP_001107854.1:p.Ile1625Thr
NM_001318827.2:c.4634T>C	NP_001305756.1:p.Ile1545Thr
NM_001318829.2:c.4598T>C	NP_001305758.1:p.Ile1533Thr
NM_001318831.2:c.4211T>C	NP_001305760.1:p.Ile1404Thr
NM_001318832.2:c.4775T>C	NP_001305761.1:p.Ile1592Thr
NM_001363528.2:c.4745T>C	NP_001350457.1:p.Ile1582Thr
NM_021055.3:c.4814T>C	NP_066399.2:p.Ile1605Thr