Canonical Allele Identifier: CA394302256

Gene: TSC2

Linked Data

• ClinVar Variation Id: 641928
• ClinVar RCV Id: RCV000795284
• dbSNP Id: rs1596418447
• MyVariant Identifiers: chr16:g.2134656A>T (hg19) ; chr16:g.2084655A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084655A>T , CM000678.2:g.2084655A>T	GRCh38
NC_000016.9:g.2134656A>T , CM000678.1:g.2134656A>T	GRCh37
NC_000016.8:g.2074657A>T	NCBI36
NG_005895.1:g.40350A>T , LRG_487:g.40350A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2782A>T	ENSP00000455997.2:n.*2782A>T
ENST00000642206.2:c.4280A>T	ENSP00000495146.2:p.Asp1427Val
ENST00000642365.2:c.4430A>T	ENSP00000495459.2:p.Asp1477Val
ENST00000644417.2:c.*4813A>T	ENSP00000493912.2:n.*4813A>T
ENST00000646464.2:c.*7182A>T	ENSP00000496610.2:n.*7182A>T
ENST00000219476.9:c.4433A>T MANE Select	ENSP00000219476.3:p.Asp1478Val
ENST00000350773.9:c.4364A>T	ENSP00000344383.4:p.Asp1455Val
ENST00000401874.7:c.4232A>T	ENSP00000384468.2:p.Asp1411Val
ENST00000568454.6:c.4265A>T	ENSP00000454487.1:p.Asp1422Val
ENST00000569110.2:c.669A>T
ENST00000569930.2:n.2315A>T
ENST00000642365.1:c.3087A>T
ENST00000642561.1:c.4304A>T	ENSP00000495099.1:p.Asp1435Val
ENST00000642728.1:n.615A>T
ENST00000642797.1:c.4235A>T	ENSP00000493846.1:p.Asp1412Val
ENST00000642936.1:c.4301A>T	ENSP00000494514.1:p.Asp1434Val
ENST00000643088.1:c.4232A>T	ENSP00000494747.1:p.Asp1411Val
ENST00000643177.1:n.447A>T
ENST00000643426.1:n.2081A>T
ENST00000643946.1:c.4364A>T	ENSP00000495927.1:p.Asp1455Val
ENST00000644043.1:c.4304A>T	ENSP00000496262.1:p.Asp1435Val
ENST00000644329.1:c.4232A>T	ENSP00000496611.1:p.Asp1411Val
ENST00000644335.1:c.4235A>T	ENSP00000496317.1:p.Asp1412Val
ENST00000644399.1:c.4354A>T
ENST00000645024.1:n.2517A>T
ENST00000646388.1:c.4433A>T	ENSP00000495921.1:p.Asp1478Val
ENST00000646634.1:n.3248A>T
ENST00000646674.1:n.1685A>T
ENST00000647042.1:n.1656A>T
ENST00000647180.1:n.1546A>T
ENST00000219476.7:c.4433A>T	ENSP00000219476.3:p.Asp1478Val
ENST00000350773.8:c.4364A>T	ENSP00000344383.4:p.Asp1455Val
ENST00000382538.10:c.4088A>T	ENSP00000371978.6:p.Asp1363Val
ENST00000401874.6:c.4232A>T	ENSP00000384468.2:p.Asp1411Val
ENST00000439117.6:c.*3600A>T	ENSP00000406980.2:n.*3600A>T
ENST00000439673.6:c.4124A>T	ENSP00000399232.2:p.Asp1375Val
ENST00000497886.5:n.2191A>T
ENST00000568454.5:c.4265A>T	ENSP00000454487.1:p.Asp1422Val
ENST00000569110.1:c.615A>T
ENST00000569930.1:n.1548A>T
NM_000548.3:c.4433A>T , LRG_487t1:c.4433A>T	NP_000539.2:p.Asp1478Val
NM_001077183.1:c.4232A>T	NP_001070651.1:p.Asp1411Val
NM_001114382.1:c.4364A>T	NP_001107854.1:p.Asp1455Val
XM_005255529.3:c.4304A>T	XP_005255586.2:p.Asp1435Val
XM_005255531.3:c.4235A>T	XP_005255588.2:p.Asp1412Val
XM_011522636.1:c.4487A>T	XP_011520938.1:p.Asp1496Val
XM_011522637.1:c.4484A>T	XP_011520939.1:p.Asp1495Val
XM_011522638.1:c.4376A>T	XP_011520940.1:p.Asp1459Val
XM_011522639.1:c.4358A>T	XP_011520941.1:p.Asp1453Val
XM_011522640.1:c.4355A>T	XP_011520942.1:p.Asp1452Val
XM_011522641.1:c.4124A>T	XP_011520943.1:p.Asp1375Val
NM_000548.4:c.4433A>T	NP_000539.2:p.Asp1478Val
NM_001077183.2:c.4232A>T	NP_001070651.1:p.Asp1411Val
NM_001114382.2:c.4364A>T	NP_001107854.1:p.Asp1455Val
NM_001318827.1:c.4124A>T	NP_001305756.1:p.Asp1375Val
NM_001318829.1:c.4088A>T	NP_001305758.1:p.Asp1363Val
NM_001318831.1:c.3701A>T	NP_001305760.1:p.Asp1234Val
NM_001318832.1:c.4265A>T	NP_001305761.1:p.Asp1422Val
NM_001363528.1:c.4235A>T	NP_001350457.1:p.Asp1412Val
NM_021055.2:c.4304A>T	NP_066399.2:p.Asp1435Val
XM_005255531.4:c.4235A>T	XP_005255588.2:p.Asp1412Val
XM_011522636.2:c.4487A>T	XP_011520938.1:p.Asp1496Val
XM_011522637.2:c.4484A>T	XP_011520939.1:p.Asp1495Val
XM_011522638.2:c.4649A>T	XP_011520940.2:p.Asp1550Val
XM_011522639.2:c.4358A>T	XP_011520941.1:p.Asp1453Val
XM_011522640.2:c.4355A>T	XP_011520942.1:p.Asp1452Val
XM_017023615.1:c.4430A>T	XP_016879104.1:p.Asp1477Val
XM_017023616.1:c.4301A>T	XP_016879105.1:p.Asp1434Val
XM_017023617.1:c.4397A>T	XP_016879106.1:p.Asp1466Val
XM_017023618.1:c.3143A>T	XP_016879107.1:p.Asp1048Val
XM_024450413.1:c.4232A>T	XP_024306181.1:p.Asp1411Val
NM_000548.5:c.4433A>T MANE Select	NP_000539.2:p.Asp1478Val
NM_001370404.1:c.4301A>T	NP_001357333.1:p.Asp1434Val
NM_001370405.1:c.4304A>T	NP_001357334.1:p.Asp1435Val
NM_001077183.3:c.4232A>T	NP_001070651.1:p.Asp1411Val
NM_001114382.3:c.4364A>T	NP_001107854.1:p.Asp1455Val
NM_001318827.2:c.4124A>T	NP_001305756.1:p.Asp1375Val
NM_001318829.2:c.4088A>T	NP_001305758.1:p.Asp1363Val
NM_001318831.2:c.3701A>T	NP_001305760.1:p.Asp1234Val
NM_001318832.2:c.4265A>T	NP_001305761.1:p.Asp1422Val
NM_001363528.2:c.4235A>T	NP_001350457.1:p.Asp1412Val
NM_021055.3:c.4304A>T	NP_066399.2:p.Asp1435Val