Canonical Allele Identifier: CA020902

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50052
• ClinVar RCV Id: RCV000043318 ; RCV000713940 ; RCV000989438 ; RCV002336165
• dbSNP Id: rs45517362
• MyVariant Identifiers: chr16:g.2136216T>C (hg19) ; chr16:g.2086215T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086215T>C , CM000678.2:g.2086215T>C	GRCh38
NC_000016.9:g.2136216T>C , CM000678.1:g.2136216T>C	GRCh37
NC_000016.8:g.2076217T>C	NCBI36
NG_005895.1:g.41910T>C , LRG_487:g.41910T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3034T>C	ENSP00000455997.2:n.*3034T>C
ENST00000642206.2:c.4532T>C	ENSP00000495146.2:p.Leu1511Pro
ENST00000642365.2:c.4682T>C	ENSP00000495459.2:p.Leu1561Pro
ENST00000644417.2:c.*5198T>C	ENSP00000493912.2:n.*5198T>C
ENST00000646464.2:c.*7434T>C	ENSP00000496610.2:n.*7434T>C
ENST00000219476.9:c.4685T>C MANE Select	ENSP00000219476.3:p.Leu1562Pro
ENST00000350773.9:c.4616T>C	ENSP00000344383.4:p.Leu1539Pro
ENST00000401874.7:c.4484T>C	ENSP00000384468.2:p.Leu1495Pro
ENST00000568454.6:c.4517T>C	ENSP00000454487.1:p.Leu1506Pro
ENST00000569110.2:c.908T>C
ENST00000569930.2:n.2567T>C
ENST00000642365.1:c.3339T>C
ENST00000642561.1:c.4556T>C	ENSP00000495099.1:p.Leu1519Pro
ENST00000642728.1:n.867T>C
ENST00000642791.1:n.282T>C
ENST00000642797.1:c.4487T>C	ENSP00000493846.1:p.Leu1496Pro
ENST00000642936.1:c.4553T>C	ENSP00000494514.1:p.Leu1518Pro
ENST00000643088.1:c.4478T>C	ENSP00000494747.1:p.Leu1493Pro
ENST00000643177.1:n.699T>C
ENST00000643426.1:n.2333T>C
ENST00000643946.1:c.4610T>C	ENSP00000495927.1:p.Leu1537Pro
ENST00000644043.1:c.4556T>C	ENSP00000496262.1:p.Leu1519Pro
ENST00000644278.1:n.167T>C
ENST00000644329.1:c.4484T>C	ENSP00000496611.1:p.Leu1495Pro
ENST00000644335.1:c.4481T>C	ENSP00000496317.1:p.Leu1494Pro
ENST00000644399.1:c.4606T>C
ENST00000645024.1:n.2769T>C
ENST00000646388.1:c.4679T>C	ENSP00000495921.1:p.Leu1560Pro
ENST00000646634.1:n.3500T>C
ENST00000646674.1:n.1937T>C
ENST00000647042.1:n.1908T>C
ENST00000647180.1:n.1798T>C
ENST00000219476.7:c.4685T>C	ENSP00000219476.3:p.Leu1562Pro
ENST00000350773.8:c.4616T>C	ENSP00000344383.4:p.Leu1539Pro
ENST00000382538.10:c.4340T>C	ENSP00000371978.6:p.Leu1447Pro
ENST00000401874.6:c.4484T>C	ENSP00000384468.2:p.Leu1495Pro
ENST00000439117.6:c.*3852T>C	ENSP00000406980.2:n.*3852T>C
ENST00000439673.6:c.4376T>C	ENSP00000399232.2:p.Leu1459Pro
ENST00000497886.5:n.2443T>C
ENST00000568454.5:c.4517T>C	ENSP00000454487.1:p.Leu1506Pro
ENST00000569110.1:c.867T>C
ENST00000569930.1:n.1800T>C
NM_000548.3:c.4685T>C , LRG_487t1:c.4685T>C	NP_000539.2:p.Leu1562Pro
NM_001077183.1:c.4484T>C	NP_001070651.1:p.Leu1495Pro
NM_001114382.1:c.4616T>C	NP_001107854.1:p.Leu1539Pro
XM_005255529.3:c.4556T>C	XP_005255586.2:p.Leu1519Pro
XM_005255531.3:c.4487T>C	XP_005255588.2:p.Leu1496Pro
XM_011522636.1:c.4739T>C	XP_011520938.1:p.Leu1580Pro
XM_011522637.1:c.4736T>C	XP_011520939.1:p.Leu1579Pro
XM_011522638.1:c.4628T>C	XP_011520940.1:p.Leu1543Pro
XM_011522639.1:c.4610T>C	XP_011520941.1:p.Leu1537Pro
XM_011522640.1:c.4607T>C	XP_011520942.1:p.Leu1536Pro
XM_011522641.1:c.4376T>C	XP_011520943.1:p.Leu1459Pro
NM_000548.4:c.4685T>C	NP_000539.2:p.Leu1562Pro
NM_001077183.2:c.4484T>C	NP_001070651.1:p.Leu1495Pro
NM_001114382.2:c.4616T>C	NP_001107854.1:p.Leu1539Pro
NM_001318827.1:c.4376T>C	NP_001305756.1:p.Leu1459Pro
NM_001318829.1:c.4340T>C	NP_001305758.1:p.Leu1447Pro
NM_001318831.1:c.3953T>C	NP_001305760.1:p.Leu1318Pro
NM_001318832.1:c.4517T>C	NP_001305761.1:p.Leu1506Pro
NM_001363528.1:c.4487T>C	NP_001350457.1:p.Leu1496Pro
NM_021055.2:c.4556T>C	NP_066399.2:p.Leu1519Pro
XM_005255531.4:c.4487T>C	XP_005255588.2:p.Leu1496Pro
XM_011522636.2:c.4739T>C	XP_011520938.1:p.Leu1580Pro
XM_011522637.2:c.4736T>C	XP_011520939.1:p.Leu1579Pro
XM_011522638.2:c.4901T>C	XP_011520940.2:p.Leu1634Pro
XM_011522639.2:c.4610T>C	XP_011520941.1:p.Leu1537Pro
XM_011522640.2:c.4607T>C	XP_011520942.1:p.Leu1536Pro
XM_017023615.1:c.4682T>C	XP_016879104.1:p.Leu1561Pro
XM_017023616.1:c.4553T>C	XP_016879105.1:p.Leu1518Pro
XM_017023617.1:c.4649T>C	XP_016879106.1:p.Leu1550Pro
XM_017023618.1:c.3395T>C	XP_016879107.1:p.Leu1132Pro
XM_024450413.1:c.4484T>C	XP_024306181.1:p.Leu1495Pro
NM_000548.5:c.4685T>C MANE Select	NP_000539.2:p.Leu1562Pro
NM_001370404.1:c.4553T>C	NP_001357333.1:p.Leu1518Pro
NM_001370405.1:c.4556T>C	NP_001357334.1:p.Leu1519Pro
NM_001077183.3:c.4484T>C	NP_001070651.1:p.Leu1495Pro
NM_001114382.3:c.4616T>C	NP_001107854.1:p.Leu1539Pro
NM_001318827.2:c.4376T>C	NP_001305756.1:p.Leu1459Pro
NM_001318829.2:c.4340T>C	NP_001305758.1:p.Leu1447Pro
NM_001318831.2:c.3953T>C	NP_001305760.1:p.Leu1318Pro
NM_001318832.2:c.4517T>C	NP_001305761.1:p.Leu1506Pro
NM_001363528.2:c.4487T>C	NP_001350457.1:p.Leu1496Pro
NM_021055.3:c.4556T>C	NP_066399.2:p.Leu1519Pro