Canonical Allele Identifier: CA492957924

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1613715
• ClinVar RCV Id: RCV002183252
• dbSNP Id: rs199848388
• MyVariant Identifiers: chr16:g.2135245G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085244G>A , CM000678.2:g.2085244G>A	GRCh38
NC_000016.9:g.2135245G>A , CM000678.1:g.2135245G>A	GRCh37
NC_000016.8:g.2075246G>A	NCBI36
NG_005895.1:g.40939G>A , LRG_487:g.40939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2933G>A	ENSP00000455997.2:n.*2933G>A
ENST00000642206.2:c.4431G>A	ENSP00000495146.2:p.Glu1477=
ENST00000642365.2:c.4581G>A	ENSP00000495459.2:p.Glu1527=
ENST00000644417.2:c.*4964G>A	ENSP00000493912.2:n.*4964G>A
ENST00000646464.2:c.*7333G>A	ENSP00000496610.2:n.*7333G>A
ENST00000219476.9:c.4584G>A MANE Select	ENSP00000219476.3:p.Glu1528=
ENST00000350773.9:c.4515G>A	ENSP00000344383.4:p.Glu1505=
ENST00000401874.7:c.4383G>A	ENSP00000384468.2:p.Glu1461=
ENST00000568454.6:c.4416G>A	ENSP00000454487.1:p.Glu1472=
ENST00000569110.2:c.807G>A
ENST00000569930.2:n.2466G>A
ENST00000642365.1:c.3238G>A
ENST00000642561.1:c.4455G>A	ENSP00000495099.1:p.Glu1485=
ENST00000642728.1:n.766G>A
ENST00000642791.1:n.181G>A
ENST00000642797.1:c.4386G>A	ENSP00000493846.1:p.Glu1462=
ENST00000642936.1:c.4452G>A	ENSP00000494514.1:p.Glu1484=
ENST00000643088.1:c.4377G>A	ENSP00000494747.1:p.Glu1459=
ENST00000643177.1:n.598G>A
ENST00000643426.1:n.2232G>A
ENST00000643946.1:c.4509G>A	ENSP00000495927.1:p.Glu1503=
ENST00000644043.1:c.4455G>A	ENSP00000496262.1:p.Glu1485=
ENST00000644278.1:n.66G>A
ENST00000644329.1:c.4383G>A	ENSP00000496611.1:p.Glu1461=
ENST00000644335.1:c.4380G>A	ENSP00000496317.1:p.Glu1460=
ENST00000644399.1:c.4505G>A
ENST00000645024.1:n.2668G>A
ENST00000646388.1:c.4578G>A	ENSP00000495921.1:p.Glu1526=
ENST00000646634.1:n.3399G>A
ENST00000646674.1:n.1836G>A
ENST00000647042.1:n.1807G>A
ENST00000647180.1:n.1697G>A
ENST00000219476.7:c.4584G>A	ENSP00000219476.3:p.Glu1528=
ENST00000350773.8:c.4515G>A	ENSP00000344383.4:p.Glu1505=
ENST00000382538.10:c.4239G>A	ENSP00000371978.6:p.Glu1413=
ENST00000401874.6:c.4383G>A	ENSP00000384468.2:p.Glu1461=
ENST00000439117.6:c.*3751G>A	ENSP00000406980.2:n.*3751G>A
ENST00000439673.6:c.4275G>A	ENSP00000399232.2:p.Glu1425=
ENST00000497886.5:n.2342G>A
ENST00000568454.5:c.4416G>A	ENSP00000454487.1:p.Glu1472=
ENST00000569110.1:c.766G>A
ENST00000569930.1:n.1699G>A
NM_000548.3:c.4584G>A , LRG_487t1:c.4584G>A	NP_000539.2:p.Glu1528=
NM_001077183.1:c.4383G>A	NP_001070651.1:p.Glu1461=
NM_001114382.1:c.4515G>A	NP_001107854.1:p.Glu1505=
XM_005255529.3:c.4455G>A	XP_005255586.2:p.Glu1485=
XM_005255531.3:c.4386G>A	XP_005255588.2:p.Glu1462=
XM_011522636.1:c.4638G>A	XP_011520938.1:p.Glu1546=
XM_011522637.1:c.4635G>A	XP_011520939.1:p.Glu1545=
XM_011522638.1:c.4527G>A	XP_011520940.1:p.Glu1509=
XM_011522639.1:c.4509G>A	XP_011520941.1:p.Glu1503=
XM_011522640.1:c.4506G>A	XP_011520942.1:p.Glu1502=
XM_011522641.1:c.4275G>A	XP_011520943.1:p.Glu1425=
NM_000548.4:c.4584G>A	NP_000539.2:p.Glu1528=
NM_001077183.2:c.4383G>A	NP_001070651.1:p.Glu1461=
NM_001114382.2:c.4515G>A	NP_001107854.1:p.Glu1505=
NM_001318827.1:c.4275G>A	NP_001305756.1:p.Glu1425=
NM_001318829.1:c.4239G>A	NP_001305758.1:p.Glu1413=
NM_001318831.1:c.3852G>A	NP_001305760.1:p.Glu1284=
NM_001318832.1:c.4416G>A	NP_001305761.1:p.Glu1472=
NM_001363528.1:c.4386G>A	NP_001350457.1:p.Glu1462=
NM_021055.2:c.4455G>A	NP_066399.2:p.Glu1485=
XM_005255531.4:c.4386G>A	XP_005255588.2:p.Glu1462=
XM_011522636.2:c.4638G>A	XP_011520938.1:p.Glu1546=
XM_011522637.2:c.4635G>A	XP_011520939.1:p.Glu1545=
XM_011522638.2:c.4800G>A	XP_011520940.2:p.Glu1600=
XM_011522639.2:c.4509G>A	XP_011520941.1:p.Glu1503=
XM_011522640.2:c.4506G>A	XP_011520942.1:p.Glu1502=
XM_017023615.1:c.4581G>A	XP_016879104.1:p.Glu1527=
XM_017023616.1:c.4452G>A	XP_016879105.1:p.Glu1484=
XM_017023617.1:c.4548G>A	XP_016879106.1:p.Glu1516=
XM_017023618.1:c.3294G>A	XP_016879107.1:p.Glu1098=
XM_024450413.1:c.4383G>A	XP_024306181.1:p.Glu1461=
NM_000548.5:c.4584G>A MANE Select	NP_000539.2:p.Glu1528=
NM_001370404.1:c.4452G>A	NP_001357333.1:p.Glu1484=
NM_001370405.1:c.4455G>A	NP_001357334.1:p.Glu1485=
NM_001077183.3:c.4383G>A	NP_001070651.1:p.Glu1461=
NM_001114382.3:c.4515G>A	NP_001107854.1:p.Glu1505=
NM_001318827.2:c.4275G>A	NP_001305756.1:p.Glu1425=
NM_001318829.2:c.4239G>A	NP_001305758.1:p.Glu1413=
NM_001318831.2:c.3852G>A	NP_001305760.1:p.Glu1284=
NM_001318832.2:c.4416G>A	NP_001305761.1:p.Glu1472=
NM_001363528.2:c.4386G>A	NP_001350457.1:p.Glu1462=
NM_021055.3:c.4455G>A	NP_066399.2:p.Glu1485=