Canonical Allele Identifier: CA394304502

Gene: TSC2

Linked Data

• dbSNP Id: rs2090623543
• MyVariant Identifiers: chr16:g.2135253T>A (hg19) ; chr16:g.2085252T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085252T>A , CM000678.2:g.2085252T>A	GRCh38
NC_000016.9:g.2135253T>A , CM000678.1:g.2135253T>A	GRCh37
NC_000016.8:g.2075254T>A	NCBI36
NG_005895.1:g.40947T>A , LRG_487:g.40947T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2941T>A	ENSP00000455997.2:n.*2941T>A
ENST00000642206.2:c.4439T>A	ENSP00000495146.2:p.Val1480Glu
ENST00000642365.2:c.4589T>A	ENSP00000495459.2:p.Val1530Glu
ENST00000644417.2:c.*4972T>A	ENSP00000493912.2:n.*4972T>A
ENST00000646464.2:c.*7341T>A	ENSP00000496610.2:n.*7341T>A
ENST00000219476.9:c.4592T>A MANE Select	ENSP00000219476.3:p.Val1531Glu
ENST00000350773.9:c.4523T>A	ENSP00000344383.4:p.Val1508Glu
ENST00000401874.7:c.4391T>A	ENSP00000384468.2:p.Val1464Glu
ENST00000568454.6:c.4424T>A	ENSP00000454487.1:p.Val1475Glu
ENST00000569110.2:c.815T>A
ENST00000569930.2:n.2474T>A
ENST00000642365.1:c.3246T>A
ENST00000642561.1:c.4463T>A	ENSP00000495099.1:p.Val1488Glu
ENST00000642728.1:n.774T>A
ENST00000642791.1:n.189T>A
ENST00000642797.1:c.4394T>A	ENSP00000493846.1:p.Val1465Glu
ENST00000642936.1:c.4460T>A	ENSP00000494514.1:p.Val1487Glu
ENST00000643088.1:c.4385T>A	ENSP00000494747.1:p.Val1462Glu
ENST00000643177.1:n.606T>A
ENST00000643426.1:n.2240T>A
ENST00000643946.1:c.4517T>A	ENSP00000495927.1:p.Val1506Glu
ENST00000644043.1:c.4463T>A	ENSP00000496262.1:p.Val1488Glu
ENST00000644278.1:n.74T>A
ENST00000644329.1:c.4391T>A	ENSP00000496611.1:p.Val1464Glu
ENST00000644335.1:c.4388T>A	ENSP00000496317.1:p.Val1463Glu
ENST00000644399.1:c.4513T>A
ENST00000645024.1:n.2676T>A
ENST00000646388.1:c.4586T>A	ENSP00000495921.1:p.Val1529Glu
ENST00000646634.1:n.3407T>A
ENST00000646674.1:n.1844T>A
ENST00000647042.1:n.1815T>A
ENST00000647180.1:n.1705T>A
ENST00000219476.7:c.4592T>A	ENSP00000219476.3:p.Val1531Glu
ENST00000350773.8:c.4523T>A	ENSP00000344383.4:p.Val1508Glu
ENST00000382538.10:c.4247T>A	ENSP00000371978.6:p.Val1416Glu
ENST00000401874.6:c.4391T>A	ENSP00000384468.2:p.Val1464Glu
ENST00000439117.6:c.*3759T>A	ENSP00000406980.2:n.*3759T>A
ENST00000439673.6:c.4283T>A	ENSP00000399232.2:p.Val1428Glu
ENST00000497886.5:n.2350T>A
ENST00000568454.5:c.4424T>A	ENSP00000454487.1:p.Val1475Glu
ENST00000569110.1:c.774T>A
ENST00000569930.1:n.1707T>A
NM_000548.3:c.4592T>A , LRG_487t1:c.4592T>A	NP_000539.2:p.Val1531Glu
NM_001077183.1:c.4391T>A	NP_001070651.1:p.Val1464Glu
NM_001114382.1:c.4523T>A	NP_001107854.1:p.Val1508Glu
XM_005255529.3:c.4463T>A	XP_005255586.2:p.Val1488Glu
XM_005255531.3:c.4394T>A	XP_005255588.2:p.Val1465Glu
XM_011522636.1:c.4646T>A	XP_011520938.1:p.Val1549Glu
XM_011522637.1:c.4643T>A	XP_011520939.1:p.Val1548Glu
XM_011522638.1:c.4535T>A	XP_011520940.1:p.Val1512Glu
XM_011522639.1:c.4517T>A	XP_011520941.1:p.Val1506Glu
XM_011522640.1:c.4514T>A	XP_011520942.1:p.Val1505Glu
XM_011522641.1:c.4283T>A	XP_011520943.1:p.Val1428Glu
NM_000548.4:c.4592T>A	NP_000539.2:p.Val1531Glu
NM_001077183.2:c.4391T>A	NP_001070651.1:p.Val1464Glu
NM_001114382.2:c.4523T>A	NP_001107854.1:p.Val1508Glu
NM_001318827.1:c.4283T>A	NP_001305756.1:p.Val1428Glu
NM_001318829.1:c.4247T>A	NP_001305758.1:p.Val1416Glu
NM_001318831.1:c.3860T>A	NP_001305760.1:p.Val1287Glu
NM_001318832.1:c.4424T>A	NP_001305761.1:p.Val1475Glu
NM_001363528.1:c.4394T>A	NP_001350457.1:p.Val1465Glu
NM_021055.2:c.4463T>A	NP_066399.2:p.Val1488Glu
XM_005255531.4:c.4394T>A	XP_005255588.2:p.Val1465Glu
XM_011522636.2:c.4646T>A	XP_011520938.1:p.Val1549Glu
XM_011522637.2:c.4643T>A	XP_011520939.1:p.Val1548Glu
XM_011522638.2:c.4808T>A	XP_011520940.2:p.Val1603Glu
XM_011522639.2:c.4517T>A	XP_011520941.1:p.Val1506Glu
XM_011522640.2:c.4514T>A	XP_011520942.1:p.Val1505Glu
XM_017023615.1:c.4589T>A	XP_016879104.1:p.Val1530Glu
XM_017023616.1:c.4460T>A	XP_016879105.1:p.Val1487Glu
XM_017023617.1:c.4556T>A	XP_016879106.1:p.Val1519Glu
XM_017023618.1:c.3302T>A	XP_016879107.1:p.Val1101Glu
XM_024450413.1:c.4391T>A	XP_024306181.1:p.Val1464Glu
NM_000548.5:c.4592T>A MANE Select	NP_000539.2:p.Val1531Glu
NM_001370404.1:c.4460T>A	NP_001357333.1:p.Val1487Glu
NM_001370405.1:c.4463T>A	NP_001357334.1:p.Val1488Glu
NM_001077183.3:c.4391T>A	NP_001070651.1:p.Val1464Glu
NM_001114382.3:c.4523T>A	NP_001107854.1:p.Val1508Glu
NM_001318827.2:c.4283T>A	NP_001305756.1:p.Val1428Glu
NM_001318829.2:c.4247T>A	NP_001305758.1:p.Val1416Glu
NM_001318831.2:c.3860T>A	NP_001305760.1:p.Val1287Glu
NM_001318832.2:c.4424T>A	NP_001305761.1:p.Val1475Glu
NM_001363528.2:c.4394T>A	NP_001350457.1:p.Val1465Glu
NM_021055.3:c.4463T>A	NP_066399.2:p.Val1488Glu