Canonical Allele Identifier: CA020979

Gene: TSC2

Linked Data

• ClinVar Variation Id: 50096
• ClinVar RCV Id: RCV000043362 ; RCV002326765 ; RCV002514176
• dbSNP Id: rs137854203
• MyVariant Identifiers: chr16:g.2136282T>G (hg19) ; chr16:g.2086281T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086281T>G , CM000678.2:g.2086281T>G	GRCh38
NC_000016.9:g.2136282T>G , CM000678.1:g.2136282T>G	GRCh37
NC_000016.8:g.2076283T>G	NCBI36
NG_005895.1:g.41976T>G , LRG_487:g.41976T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3100T>G	ENSP00000455997.2:n.*3100T>G
ENST00000642206.2:c.4598T>G	ENSP00000495146.2:p.Leu1533Arg
ENST00000642365.2:c.4748T>G	ENSP00000495459.2:p.Leu1583Arg
ENST00000644417.2:c.*5264T>G	ENSP00000493912.2:n.*5264T>G
ENST00000646464.2:c.*7500T>G	ENSP00000496610.2:n.*7500T>G
ENST00000219476.9:c.4751T>G MANE Select	ENSP00000219476.3:p.Leu1584Arg
ENST00000350773.9:c.4682T>G	ENSP00000344383.4:p.Leu1561Arg
ENST00000401874.7:c.4550T>G	ENSP00000384468.2:p.Leu1517Arg
ENST00000568454.6:c.4583T>G	ENSP00000454487.1:p.Leu1528Arg
ENST00000569110.2:c.974T>G
ENST00000569930.2:n.2633T>G
ENST00000642365.1:c.3405T>G
ENST00000642561.1:c.4622T>G	ENSP00000495099.1:p.Leu1541Arg
ENST00000642728.1:n.933T>G
ENST00000642791.1:n.348T>G
ENST00000642797.1:c.4553T>G	ENSP00000493846.1:p.Leu1518Arg
ENST00000642936.1:c.4619T>G	ENSP00000494514.1:p.Leu1540Arg
ENST00000643088.1:c.4544T>G	ENSP00000494747.1:p.Leu1515Arg
ENST00000643177.1:n.765T>G
ENST00000643426.1:n.2399T>G
ENST00000643946.1:c.4676T>G	ENSP00000495927.1:p.Leu1559Arg
ENST00000644043.1:c.4622T>G	ENSP00000496262.1:p.Leu1541Arg
ENST00000644278.1:n.233T>G
ENST00000644329.1:c.4550T>G	ENSP00000496611.1:p.Leu1517Arg
ENST00000644335.1:c.4547T>G	ENSP00000496317.1:p.Leu1516Arg
ENST00000644399.1:c.4672T>G
ENST00000645024.1:n.2835T>G
ENST00000646388.1:c.4745T>G	ENSP00000495921.1:p.Leu1582Arg
ENST00000646634.1:n.3566T>G
ENST00000646674.1:n.2003T>G
ENST00000647042.1:n.1974T>G
ENST00000647180.1:n.1864T>G
ENST00000219476.7:c.4751T>G	ENSP00000219476.3:p.Leu1584Arg
ENST00000350773.8:c.4682T>G	ENSP00000344383.4:p.Leu1561Arg
ENST00000382538.10:c.4406T>G	ENSP00000371978.6:p.Leu1469Arg
ENST00000401874.6:c.4550T>G	ENSP00000384468.2:p.Leu1517Arg
ENST00000439117.6:c.*3918T>G	ENSP00000406980.2:n.*3918T>G
ENST00000439673.6:c.4442T>G	ENSP00000399232.2:p.Leu1481Arg
ENST00000497886.5:n.2509T>G
ENST00000568454.5:c.4583T>G	ENSP00000454487.1:p.Leu1528Arg
ENST00000569110.1:c.933T>G
ENST00000569930.1:n.1866T>G
NM_000548.3:c.4751T>G , LRG_487t1:c.4751T>G	NP_000539.2:p.Leu1584Arg
NM_001077183.1:c.4550T>G	NP_001070651.1:p.Leu1517Arg
NM_001114382.1:c.4682T>G	NP_001107854.1:p.Leu1561Arg
XM_005255529.3:c.4622T>G	XP_005255586.2:p.Leu1541Arg
XM_005255531.3:c.4553T>G	XP_005255588.2:p.Leu1518Arg
XM_011522636.1:c.4805T>G	XP_011520938.1:p.Leu1602Arg
XM_011522637.1:c.4802T>G	XP_011520939.1:p.Leu1601Arg
XM_011522638.1:c.4694T>G	XP_011520940.1:p.Leu1565Arg
XM_011522639.1:c.4676T>G	XP_011520941.1:p.Leu1559Arg
XM_011522640.1:c.4673T>G	XP_011520942.1:p.Leu1558Arg
XM_011522641.1:c.4442T>G	XP_011520943.1:p.Leu1481Arg
NM_000548.4:c.4751T>G	NP_000539.2:p.Leu1584Arg
NM_001077183.2:c.4550T>G	NP_001070651.1:p.Leu1517Arg
NM_001114382.2:c.4682T>G	NP_001107854.1:p.Leu1561Arg
NM_001318827.1:c.4442T>G	NP_001305756.1:p.Leu1481Arg
NM_001318829.1:c.4406T>G	NP_001305758.1:p.Leu1469Arg
NM_001318831.1:c.4019T>G	NP_001305760.1:p.Leu1340Arg
NM_001318832.1:c.4583T>G	NP_001305761.1:p.Leu1528Arg
NM_001363528.1:c.4553T>G	NP_001350457.1:p.Leu1518Arg
NM_021055.2:c.4622T>G	NP_066399.2:p.Leu1541Arg
XM_005255531.4:c.4553T>G	XP_005255588.2:p.Leu1518Arg
XM_011522636.2:c.4805T>G	XP_011520938.1:p.Leu1602Arg
XM_011522637.2:c.4802T>G	XP_011520939.1:p.Leu1601Arg
XM_011522638.2:c.4967T>G	XP_011520940.2:p.Leu1656Arg
XM_011522639.2:c.4676T>G	XP_011520941.1:p.Leu1559Arg
XM_011522640.2:c.4673T>G	XP_011520942.1:p.Leu1558Arg
XM_017023615.1:c.4748T>G	XP_016879104.1:p.Leu1583Arg
XM_017023616.1:c.4619T>G	XP_016879105.1:p.Leu1540Arg
XM_017023617.1:c.4715T>G	XP_016879106.1:p.Leu1572Arg
XM_017023618.1:c.3461T>G	XP_016879107.1:p.Leu1154Arg
XM_024450413.1:c.4550T>G	XP_024306181.1:p.Leu1517Arg
NM_000548.5:c.4751T>G MANE Select	NP_000539.2:p.Leu1584Arg
NM_001370404.1:c.4619T>G	NP_001357333.1:p.Leu1540Arg
NM_001370405.1:c.4622T>G	NP_001357334.1:p.Leu1541Arg
NM_001077183.3:c.4550T>G	NP_001070651.1:p.Leu1517Arg
NM_001114382.3:c.4682T>G	NP_001107854.1:p.Leu1561Arg
NM_001318827.2:c.4442T>G	NP_001305756.1:p.Leu1481Arg
NM_001318829.2:c.4406T>G	NP_001305758.1:p.Leu1469Arg
NM_001318831.2:c.4019T>G	NP_001305760.1:p.Leu1340Arg
NM_001318832.2:c.4583T>G	NP_001305761.1:p.Leu1528Arg
NM_001363528.2:c.4553T>G	NP_001350457.1:p.Leu1518Arg
NM_021055.3:c.4622T>G	NP_066399.2:p.Leu1541Arg