Canonical Allele Identifier: CA394305060

Gene: TSC2

Linked Data

• dbSNP Id: rs2151553694
• MyVariant Identifiers: chr16:g.2135316A>T (hg19) ; chr16:g.2085315A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085315A>T , CM000678.2:g.2085315A>T	GRCh38
NC_000016.9:g.2135316A>T , CM000678.1:g.2135316A>T	GRCh37
NC_000016.8:g.2075317A>T	NCBI36
NG_005895.1:g.41010A>T , LRG_487:g.41010A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3004A>T	ENSP00000455997.2:n.*3004A>T
ENST00000642206.2:c.4502A>T	ENSP00000495146.2:p.Glu1501Val
ENST00000642365.2:c.4652A>T	ENSP00000495459.2:p.Glu1551Val
ENST00000644417.2:c.*5035A>T	ENSP00000493912.2:n.*5035A>T
ENST00000646464.2:c.*7404A>T	ENSP00000496610.2:n.*7404A>T
ENST00000219476.9:c.4655A>T MANE Select	ENSP00000219476.3:p.Glu1552Val
ENST00000350773.9:c.4586A>T	ENSP00000344383.4:p.Glu1529Val
ENST00000401874.7:c.4454A>T	ENSP00000384468.2:p.Glu1485Val
ENST00000568454.6:c.4487A>T	ENSP00000454487.1:p.Glu1496Val
ENST00000569110.2:c.878A>T
ENST00000569930.2:n.2537A>T
ENST00000642365.1:c.3309A>T
ENST00000642561.1:c.4526A>T	ENSP00000495099.1:p.Glu1509Val
ENST00000642728.1:n.837A>T
ENST00000642791.1:n.252A>T
ENST00000642797.1:c.4457A>T	ENSP00000493846.1:p.Glu1486Val
ENST00000642936.1:c.4523A>T	ENSP00000494514.1:p.Glu1508Val
ENST00000643088.1:c.4448A>T	ENSP00000494747.1:p.Glu1483Val
ENST00000643177.1:n.669A>T
ENST00000643426.1:n.2303A>T
ENST00000643946.1:c.4580A>T	ENSP00000495927.1:p.Glu1527Val
ENST00000644043.1:c.4526A>T	ENSP00000496262.1:p.Glu1509Val
ENST00000644278.1:n.137A>T
ENST00000644329.1:c.4454A>T	ENSP00000496611.1:p.Glu1485Val
ENST00000644335.1:c.4451A>T	ENSP00000496317.1:p.Glu1484Val
ENST00000644399.1:c.4576A>T
ENST00000645024.1:n.2739A>T
ENST00000646388.1:c.4649A>T	ENSP00000495921.1:p.Glu1550Val
ENST00000646634.1:n.3470A>T
ENST00000646674.1:n.1907A>T
ENST00000647042.1:n.1878A>T
ENST00000647180.1:n.1768A>T
ENST00000219476.7:c.4655A>T	ENSP00000219476.3:p.Glu1552Val
ENST00000350773.8:c.4586A>T	ENSP00000344383.4:p.Glu1529Val
ENST00000382538.10:c.4310A>T	ENSP00000371978.6:p.Glu1437Val
ENST00000401874.6:c.4454A>T	ENSP00000384468.2:p.Glu1485Val
ENST00000439117.6:c.*3822A>T	ENSP00000406980.2:n.*3822A>T
ENST00000439673.6:c.4346A>T	ENSP00000399232.2:p.Glu1449Val
ENST00000497886.5:n.2413A>T
ENST00000568454.5:c.4487A>T	ENSP00000454487.1:p.Glu1496Val
ENST00000569110.1:c.837A>T
ENST00000569930.1:n.1770A>T
NM_000548.3:c.4655A>T , LRG_487t1:c.4655A>T	NP_000539.2:p.Glu1552Val
NM_001077183.1:c.4454A>T	NP_001070651.1:p.Glu1485Val
NM_001114382.1:c.4586A>T	NP_001107854.1:p.Glu1529Val
XM_005255529.3:c.4526A>T	XP_005255586.2:p.Glu1509Val
XM_005255531.3:c.4457A>T	XP_005255588.2:p.Glu1486Val
XM_011522636.1:c.4709A>T	XP_011520938.1:p.Glu1570Val
XM_011522637.1:c.4706A>T	XP_011520939.1:p.Glu1569Val
XM_011522638.1:c.4598A>T	XP_011520940.1:p.Glu1533Val
XM_011522639.1:c.4580A>T	XP_011520941.1:p.Glu1527Val
XM_011522640.1:c.4577A>T	XP_011520942.1:p.Glu1526Val
XM_011522641.1:c.4346A>T	XP_011520943.1:p.Glu1449Val
NM_000548.4:c.4655A>T	NP_000539.2:p.Glu1552Val
NM_001077183.2:c.4454A>T	NP_001070651.1:p.Glu1485Val
NM_001114382.2:c.4586A>T	NP_001107854.1:p.Glu1529Val
NM_001318827.1:c.4346A>T	NP_001305756.1:p.Glu1449Val
NM_001318829.1:c.4310A>T	NP_001305758.1:p.Glu1437Val
NM_001318831.1:c.3923A>T	NP_001305760.1:p.Glu1308Val
NM_001318832.1:c.4487A>T	NP_001305761.1:p.Glu1496Val
NM_001363528.1:c.4457A>T	NP_001350457.1:p.Glu1486Val
NM_021055.2:c.4526A>T	NP_066399.2:p.Glu1509Val
XM_005255531.4:c.4457A>T	XP_005255588.2:p.Glu1486Val
XM_011522636.2:c.4709A>T	XP_011520938.1:p.Glu1570Val
XM_011522637.2:c.4706A>T	XP_011520939.1:p.Glu1569Val
XM_011522638.2:c.4871A>T	XP_011520940.2:p.Glu1624Val
XM_011522639.2:c.4580A>T	XP_011520941.1:p.Glu1527Val
XM_011522640.2:c.4577A>T	XP_011520942.1:p.Glu1526Val
XM_017023615.1:c.4652A>T	XP_016879104.1:p.Glu1551Val
XM_017023616.1:c.4523A>T	XP_016879105.1:p.Glu1508Val
XM_017023617.1:c.4619A>T	XP_016879106.1:p.Glu1540Val
XM_017023618.1:c.3365A>T	XP_016879107.1:p.Glu1122Val
XM_024450413.1:c.4454A>T	XP_024306181.1:p.Glu1485Val
NM_000548.5:c.4655A>T MANE Select	NP_000539.2:p.Glu1552Val
NM_001370404.1:c.4523A>T	NP_001357333.1:p.Glu1508Val
NM_001370405.1:c.4526A>T	NP_001357334.1:p.Glu1509Val
NM_001077183.3:c.4454A>T	NP_001070651.1:p.Glu1485Val
NM_001114382.3:c.4586A>T	NP_001107854.1:p.Glu1529Val
NM_001318827.2:c.4346A>T	NP_001305756.1:p.Glu1449Val
NM_001318829.2:c.4310A>T	NP_001305758.1:p.Glu1437Val
NM_001318831.2:c.3923A>T	NP_001305760.1:p.Glu1308Val
NM_001318832.2:c.4487A>T	NP_001305761.1:p.Glu1496Val
NM_001363528.2:c.4457A>T	NP_001350457.1:p.Glu1486Val
NM_021055.3:c.4526A>T	NP_066399.2:p.Glu1509Val