Canonical Allele Identifier: CA020767

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49476
• ClinVar RCV Id: RCV000042736 ; RCV001831715
• dbSNP Id: rs45455897
• MyVariant Identifiers: chr16:g.2135281C>A (hg19) ; chr16:g.2085280C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085280C>A , CM000678.2:g.2085280C>A	GRCh38
NC_000016.9:g.2135281C>A , CM000678.1:g.2135281C>A	GRCh37
NC_000016.8:g.2075282C>A	NCBI36
NG_005895.1:g.40975C>A , LRG_487:g.40975C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2969C>A	ENSP00000455997.2:n.*2969C>A
ENST00000642206.2:c.4467C>A	ENSP00000495146.2:p.Tyr1489Ter
ENST00000642365.2:c.4617C>A	ENSP00000495459.2:p.Tyr1539Ter
ENST00000644417.2:c.*5000C>A	ENSP00000493912.2:n.*5000C>A
ENST00000646464.2:c.*7369C>A	ENSP00000496610.2:n.*7369C>A
ENST00000219476.9:c.4620C>A MANE Select	ENSP00000219476.3:p.Tyr1540Ter
ENST00000350773.9:c.4551C>A	ENSP00000344383.4:p.Tyr1517Ter
ENST00000401874.7:c.4419C>A	ENSP00000384468.2:p.Tyr1473Ter
ENST00000568454.6:c.4452C>A	ENSP00000454487.1:p.Tyr1484Ter
ENST00000569110.2:c.843C>A
ENST00000569930.2:n.2502C>A
ENST00000642365.1:c.3274C>A
ENST00000642561.1:c.4491C>A	ENSP00000495099.1:p.Tyr1497Ter
ENST00000642728.1:n.802C>A
ENST00000642791.1:n.217C>A
ENST00000642797.1:c.4422C>A	ENSP00000493846.1:p.Tyr1474Ter
ENST00000642936.1:c.4488C>A	ENSP00000494514.1:p.Tyr1496Ter
ENST00000643088.1:c.4413C>A	ENSP00000494747.1:p.Tyr1471Ter
ENST00000643177.1:n.634C>A
ENST00000643426.1:n.2268C>A
ENST00000643946.1:c.4545C>A	ENSP00000495927.1:p.Tyr1515Ter
ENST00000644043.1:c.4491C>A	ENSP00000496262.1:p.Tyr1497Ter
ENST00000644278.1:n.102C>A
ENST00000644329.1:c.4419C>A	ENSP00000496611.1:p.Tyr1473Ter
ENST00000644335.1:c.4416C>A	ENSP00000496317.1:p.Tyr1472Ter
ENST00000644399.1:c.4541C>A
ENST00000645024.1:n.2704C>A
ENST00000646388.1:c.4614C>A	ENSP00000495921.1:p.Tyr1538Ter
ENST00000646634.1:n.3435C>A
ENST00000646674.1:n.1872C>A
ENST00000647042.1:n.1843C>A
ENST00000647180.1:n.1733C>A
ENST00000219476.7:c.4620C>A	ENSP00000219476.3:p.Tyr1540Ter
ENST00000350773.8:c.4551C>A	ENSP00000344383.4:p.Tyr1517Ter
ENST00000382538.10:c.4275C>A	ENSP00000371978.6:p.Tyr1425Ter
ENST00000401874.6:c.4419C>A	ENSP00000384468.2:p.Tyr1473Ter
ENST00000439117.6:c.*3787C>A	ENSP00000406980.2:n.*3787C>A
ENST00000439673.6:c.4311C>A	ENSP00000399232.2:p.Tyr1437Ter
ENST00000497886.5:n.2378C>A
ENST00000568454.5:c.4452C>A	ENSP00000454487.1:p.Tyr1484Ter
ENST00000569110.1:c.802C>A
ENST00000569930.1:n.1735C>A
NM_000548.3:c.4620C>A , LRG_487t1:c.4620C>A	NP_000539.2:p.Tyr1540Ter
NM_001077183.1:c.4419C>A	NP_001070651.1:p.Tyr1473Ter
NM_001114382.1:c.4551C>A	NP_001107854.1:p.Tyr1517Ter
XM_005255529.3:c.4491C>A	XP_005255586.2:p.Tyr1497Ter
XM_005255531.3:c.4422C>A	XP_005255588.2:p.Tyr1474Ter
XM_011522636.1:c.4674C>A	XP_011520938.1:p.Tyr1558Ter
XM_011522637.1:c.4671C>A	XP_011520939.1:p.Tyr1557Ter
XM_011522638.1:c.4563C>A	XP_011520940.1:p.Tyr1521Ter
XM_011522639.1:c.4545C>A	XP_011520941.1:p.Tyr1515Ter
XM_011522640.1:c.4542C>A	XP_011520942.1:p.Tyr1514Ter
XM_011522641.1:c.4311C>A	XP_011520943.1:p.Tyr1437Ter
NM_000548.4:c.4620C>A	NP_000539.2:p.Tyr1540Ter
NM_001077183.2:c.4419C>A	NP_001070651.1:p.Tyr1473Ter
NM_001114382.2:c.4551C>A	NP_001107854.1:p.Tyr1517Ter
NM_001318827.1:c.4311C>A	NP_001305756.1:p.Tyr1437Ter
NM_001318829.1:c.4275C>A	NP_001305758.1:p.Tyr1425Ter
NM_001318831.1:c.3888C>A	NP_001305760.1:p.Tyr1296Ter
NM_001318832.1:c.4452C>A	NP_001305761.1:p.Tyr1484Ter
NM_001363528.1:c.4422C>A	NP_001350457.1:p.Tyr1474Ter
NM_021055.2:c.4491C>A	NP_066399.2:p.Tyr1497Ter
XM_005255531.4:c.4422C>A	XP_005255588.2:p.Tyr1474Ter
XM_011522636.2:c.4674C>A	XP_011520938.1:p.Tyr1558Ter
XM_011522637.2:c.4671C>A	XP_011520939.1:p.Tyr1557Ter
XM_011522638.2:c.4836C>A	XP_011520940.2:p.Tyr1612Ter
XM_011522639.2:c.4545C>A	XP_011520941.1:p.Tyr1515Ter
XM_011522640.2:c.4542C>A	XP_011520942.1:p.Tyr1514Ter
XM_017023615.1:c.4617C>A	XP_016879104.1:p.Tyr1539Ter
XM_017023616.1:c.4488C>A	XP_016879105.1:p.Tyr1496Ter
XM_017023617.1:c.4584C>A	XP_016879106.1:p.Tyr1528Ter
XM_017023618.1:c.3330C>A	XP_016879107.1:p.Tyr1110Ter
XM_024450413.1:c.4419C>A	XP_024306181.1:p.Tyr1473Ter
NM_000548.5:c.4620C>A MANE Select	NP_000539.2:p.Tyr1540Ter
NM_001370404.1:c.4488C>A	NP_001357333.1:p.Tyr1496Ter
NM_001370405.1:c.4491C>A	NP_001357334.1:p.Tyr1497Ter
NM_001077183.3:c.4419C>A	NP_001070651.1:p.Tyr1473Ter
NM_001114382.3:c.4551C>A	NP_001107854.1:p.Tyr1517Ter
NM_001318827.2:c.4311C>A	NP_001305756.1:p.Tyr1437Ter
NM_001318829.2:c.4275C>A	NP_001305758.1:p.Tyr1425Ter
NM_001318831.2:c.3888C>A	NP_001305760.1:p.Tyr1296Ter
NM_001318832.2:c.4452C>A	NP_001305761.1:p.Tyr1484Ter
NM_001363528.2:c.4422C>A	NP_001350457.1:p.Tyr1474Ter
NM_021055.3:c.4491C>A	NP_066399.2:p.Tyr1497Ter