Canonical Allele Identifier: CA394304881

Gene: TSC2

Linked Data

• dbSNP Id: rs2151552632
• MyVariant Identifiers: chr16:g.2135295T>A (hg19) ; chr16:g.2085294T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085294T>A , CM000678.2:g.2085294T>A	GRCh38
NC_000016.9:g.2135295T>A , CM000678.1:g.2135295T>A	GRCh37
NC_000016.8:g.2075296T>A	NCBI36
NG_005895.1:g.40989T>A , LRG_487:g.40989T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2983T>A	ENSP00000455997.2:n.*2983T>A
ENST00000642206.2:c.4481T>A	ENSP00000495146.2:p.Ile1494Asn
ENST00000642365.2:c.4631T>A	ENSP00000495459.2:p.Ile1544Asn
ENST00000644417.2:c.*5014T>A	ENSP00000493912.2:n.*5014T>A
ENST00000646464.2:c.*7383T>A	ENSP00000496610.2:n.*7383T>A
ENST00000219476.9:c.4634T>A MANE Select	ENSP00000219476.3:p.Ile1545Asn
ENST00000350773.9:c.4565T>A	ENSP00000344383.4:p.Ile1522Asn
ENST00000401874.7:c.4433T>A	ENSP00000384468.2:p.Ile1478Asn
ENST00000568454.6:c.4466T>A	ENSP00000454487.1:p.Ile1489Asn
ENST00000569110.2:c.857T>A
ENST00000569930.2:n.2516T>A
ENST00000642365.1:c.3288T>A
ENST00000642561.1:c.4505T>A	ENSP00000495099.1:p.Ile1502Asn
ENST00000642728.1:n.816T>A
ENST00000642791.1:n.231T>A
ENST00000642797.1:c.4436T>A	ENSP00000493846.1:p.Ile1479Asn
ENST00000642936.1:c.4502T>A	ENSP00000494514.1:p.Ile1501Asn
ENST00000643088.1:c.4427T>A	ENSP00000494747.1:p.Ile1476Asn
ENST00000643177.1:n.648T>A
ENST00000643426.1:n.2282T>A
ENST00000643946.1:c.4559T>A	ENSP00000495927.1:p.Ile1520Asn
ENST00000644043.1:c.4505T>A	ENSP00000496262.1:p.Ile1502Asn
ENST00000644278.1:n.116T>A
ENST00000644329.1:c.4433T>A	ENSP00000496611.1:p.Ile1478Asn
ENST00000644335.1:c.4430T>A	ENSP00000496317.1:p.Ile1477Asn
ENST00000644399.1:c.4555T>A
ENST00000645024.1:n.2718T>A
ENST00000646388.1:c.4628T>A	ENSP00000495921.1:p.Ile1543Asn
ENST00000646634.1:n.3449T>A
ENST00000646674.1:n.1886T>A
ENST00000647042.1:n.1857T>A
ENST00000647180.1:n.1747T>A
ENST00000219476.7:c.4634T>A	ENSP00000219476.3:p.Ile1545Asn
ENST00000350773.8:c.4565T>A	ENSP00000344383.4:p.Ile1522Asn
ENST00000382538.10:c.4289T>A	ENSP00000371978.6:p.Ile1430Asn
ENST00000401874.6:c.4433T>A	ENSP00000384468.2:p.Ile1478Asn
ENST00000439117.6:c.*3801T>A	ENSP00000406980.2:n.*3801T>A
ENST00000439673.6:c.4325T>A	ENSP00000399232.2:p.Ile1442Asn
ENST00000497886.5:n.2392T>A
ENST00000568454.5:c.4466T>A	ENSP00000454487.1:p.Ile1489Asn
ENST00000569110.1:c.816T>A
ENST00000569930.1:n.1749T>A
NM_000548.3:c.4634T>A , LRG_487t1:c.4634T>A	NP_000539.2:p.Ile1545Asn
NM_001077183.1:c.4433T>A	NP_001070651.1:p.Ile1478Asn
NM_001114382.1:c.4565T>A	NP_001107854.1:p.Ile1522Asn
XM_005255529.3:c.4505T>A	XP_005255586.2:p.Ile1502Asn
XM_005255531.3:c.4436T>A	XP_005255588.2:p.Ile1479Asn
XM_011522636.1:c.4688T>A	XP_011520938.1:p.Ile1563Asn
XM_011522637.1:c.4685T>A	XP_011520939.1:p.Ile1562Asn
XM_011522638.1:c.4577T>A	XP_011520940.1:p.Ile1526Asn
XM_011522639.1:c.4559T>A	XP_011520941.1:p.Ile1520Asn
XM_011522640.1:c.4556T>A	XP_011520942.1:p.Ile1519Asn
XM_011522641.1:c.4325T>A	XP_011520943.1:p.Ile1442Asn
NM_000548.4:c.4634T>A	NP_000539.2:p.Ile1545Asn
NM_001077183.2:c.4433T>A	NP_001070651.1:p.Ile1478Asn
NM_001114382.2:c.4565T>A	NP_001107854.1:p.Ile1522Asn
NM_001318827.1:c.4325T>A	NP_001305756.1:p.Ile1442Asn
NM_001318829.1:c.4289T>A	NP_001305758.1:p.Ile1430Asn
NM_001318831.1:c.3902T>A	NP_001305760.1:p.Ile1301Asn
NM_001318832.1:c.4466T>A	NP_001305761.1:p.Ile1489Asn
NM_001363528.1:c.4436T>A	NP_001350457.1:p.Ile1479Asn
NM_021055.2:c.4505T>A	NP_066399.2:p.Ile1502Asn
XM_005255531.4:c.4436T>A	XP_005255588.2:p.Ile1479Asn
XM_011522636.2:c.4688T>A	XP_011520938.1:p.Ile1563Asn
XM_011522637.2:c.4685T>A	XP_011520939.1:p.Ile1562Asn
XM_011522638.2:c.4850T>A	XP_011520940.2:p.Ile1617Asn
XM_011522639.2:c.4559T>A	XP_011520941.1:p.Ile1520Asn
XM_011522640.2:c.4556T>A	XP_011520942.1:p.Ile1519Asn
XM_017023615.1:c.4631T>A	XP_016879104.1:p.Ile1544Asn
XM_017023616.1:c.4502T>A	XP_016879105.1:p.Ile1501Asn
XM_017023617.1:c.4598T>A	XP_016879106.1:p.Ile1533Asn
XM_017023618.1:c.3344T>A	XP_016879107.1:p.Ile1115Asn
XM_024450413.1:c.4433T>A	XP_024306181.1:p.Ile1478Asn
NM_000548.5:c.4634T>A MANE Select	NP_000539.2:p.Ile1545Asn
NM_001370404.1:c.4502T>A	NP_001357333.1:p.Ile1501Asn
NM_001370405.1:c.4505T>A	NP_001357334.1:p.Ile1502Asn
NM_001077183.3:c.4433T>A	NP_001070651.1:p.Ile1478Asn
NM_001114382.3:c.4565T>A	NP_001107854.1:p.Ile1522Asn
NM_001318827.2:c.4325T>A	NP_001305756.1:p.Ile1442Asn
NM_001318829.2:c.4289T>A	NP_001305758.1:p.Ile1430Asn
NM_001318831.2:c.3902T>A	NP_001305760.1:p.Ile1301Asn
NM_001318832.2:c.4466T>A	NP_001305761.1:p.Ile1489Asn
NM_001363528.2:c.4436T>A	NP_001350457.1:p.Ile1479Asn
NM_021055.3:c.4505T>A	NP_066399.2:p.Ile1502Asn