Canonical Allele Identifier: CA394304525

Gene: TSC2

Linked Data

• dbSNP Id: rs2090623795
• MyVariant Identifiers: chr16:g.2135256A>T (hg19) ; chr16:g.2085255A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085255A>T , CM000678.2:g.2085255A>T	GRCh38
NC_000016.9:g.2135256A>T , CM000678.1:g.2135256A>T	GRCh37
NC_000016.8:g.2075257A>T	NCBI36
NG_005895.1:g.40950A>T , LRG_487:g.40950A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2944A>T	ENSP00000455997.2:n.*2944A>T
ENST00000642206.2:c.4442A>T	ENSP00000495146.2:p.Gln1481Leu
ENST00000642365.2:c.4592A>T	ENSP00000495459.2:p.Gln1531Leu
ENST00000644417.2:c.*4975A>T	ENSP00000493912.2:n.*4975A>T
ENST00000646464.2:c.*7344A>T	ENSP00000496610.2:n.*7344A>T
ENST00000219476.9:c.4595A>T MANE Select	ENSP00000219476.3:p.Gln1532Leu
ENST00000350773.9:c.4526A>T	ENSP00000344383.4:p.Gln1509Leu
ENST00000401874.7:c.4394A>T	ENSP00000384468.2:p.Gln1465Leu
ENST00000568454.6:c.4427A>T	ENSP00000454487.1:p.Gln1476Leu
ENST00000569110.2:c.818A>T
ENST00000569930.2:n.2477A>T
ENST00000642365.1:c.3249A>T
ENST00000642561.1:c.4466A>T	ENSP00000495099.1:p.Gln1489Leu
ENST00000642728.1:n.777A>T
ENST00000642791.1:n.192A>T
ENST00000642797.1:c.4397A>T	ENSP00000493846.1:p.Gln1466Leu
ENST00000642936.1:c.4463A>T	ENSP00000494514.1:p.Gln1488Leu
ENST00000643088.1:c.4388A>T	ENSP00000494747.1:p.Gln1463Leu
ENST00000643177.1:n.609A>T
ENST00000643426.1:n.2243A>T
ENST00000643946.1:c.4520A>T	ENSP00000495927.1:p.Gln1507Leu
ENST00000644043.1:c.4466A>T	ENSP00000496262.1:p.Gln1489Leu
ENST00000644278.1:n.77A>T
ENST00000644329.1:c.4394A>T	ENSP00000496611.1:p.Gln1465Leu
ENST00000644335.1:c.4391A>T	ENSP00000496317.1:p.Gln1464Leu
ENST00000644399.1:c.4516A>T
ENST00000645024.1:n.2679A>T
ENST00000646388.1:c.4589A>T	ENSP00000495921.1:p.Gln1530Leu
ENST00000646634.1:n.3410A>T
ENST00000646674.1:n.1847A>T
ENST00000647042.1:n.1818A>T
ENST00000647180.1:n.1708A>T
ENST00000219476.7:c.4595A>T	ENSP00000219476.3:p.Gln1532Leu
ENST00000350773.8:c.4526A>T	ENSP00000344383.4:p.Gln1509Leu
ENST00000382538.10:c.4250A>T	ENSP00000371978.6:p.Gln1417Leu
ENST00000401874.6:c.4394A>T	ENSP00000384468.2:p.Gln1465Leu
ENST00000439117.6:c.*3762A>T	ENSP00000406980.2:n.*3762A>T
ENST00000439673.6:c.4286A>T	ENSP00000399232.2:p.Gln1429Leu
ENST00000497886.5:n.2353A>T
ENST00000568454.5:c.4427A>T	ENSP00000454487.1:p.Gln1476Leu
ENST00000569110.1:c.777A>T
ENST00000569930.1:n.1710A>T
NM_000548.3:c.4595A>T , LRG_487t1:c.4595A>T	NP_000539.2:p.Gln1532Leu
NM_001077183.1:c.4394A>T	NP_001070651.1:p.Gln1465Leu
NM_001114382.1:c.4526A>T	NP_001107854.1:p.Gln1509Leu
XM_005255529.3:c.4466A>T	XP_005255586.2:p.Gln1489Leu
XM_005255531.3:c.4397A>T	XP_005255588.2:p.Gln1466Leu
XM_011522636.1:c.4649A>T	XP_011520938.1:p.Gln1550Leu
XM_011522637.1:c.4646A>T	XP_011520939.1:p.Gln1549Leu
XM_011522638.1:c.4538A>T	XP_011520940.1:p.Gln1513Leu
XM_011522639.1:c.4520A>T	XP_011520941.1:p.Gln1507Leu
XM_011522640.1:c.4517A>T	XP_011520942.1:p.Gln1506Leu
XM_011522641.1:c.4286A>T	XP_011520943.1:p.Gln1429Leu
NM_000548.4:c.4595A>T	NP_000539.2:p.Gln1532Leu
NM_001077183.2:c.4394A>T	NP_001070651.1:p.Gln1465Leu
NM_001114382.2:c.4526A>T	NP_001107854.1:p.Gln1509Leu
NM_001318827.1:c.4286A>T	NP_001305756.1:p.Gln1429Leu
NM_001318829.1:c.4250A>T	NP_001305758.1:p.Gln1417Leu
NM_001318831.1:c.3863A>T	NP_001305760.1:p.Gln1288Leu
NM_001318832.1:c.4427A>T	NP_001305761.1:p.Gln1476Leu
NM_001363528.1:c.4397A>T	NP_001350457.1:p.Gln1466Leu
NM_021055.2:c.4466A>T	NP_066399.2:p.Gln1489Leu
XM_005255531.4:c.4397A>T	XP_005255588.2:p.Gln1466Leu
XM_011522636.2:c.4649A>T	XP_011520938.1:p.Gln1550Leu
XM_011522637.2:c.4646A>T	XP_011520939.1:p.Gln1549Leu
XM_011522638.2:c.4811A>T	XP_011520940.2:p.Gln1604Leu
XM_011522639.2:c.4520A>T	XP_011520941.1:p.Gln1507Leu
XM_011522640.2:c.4517A>T	XP_011520942.1:p.Gln1506Leu
XM_017023615.1:c.4592A>T	XP_016879104.1:p.Gln1531Leu
XM_017023616.1:c.4463A>T	XP_016879105.1:p.Gln1488Leu
XM_017023617.1:c.4559A>T	XP_016879106.1:p.Gln1520Leu
XM_017023618.1:c.3305A>T	XP_016879107.1:p.Gln1102Leu
XM_024450413.1:c.4394A>T	XP_024306181.1:p.Gln1465Leu
NM_000548.5:c.4595A>T MANE Select	NP_000539.2:p.Gln1532Leu
NM_001370404.1:c.4463A>T	NP_001357333.1:p.Gln1488Leu
NM_001370405.1:c.4466A>T	NP_001357334.1:p.Gln1489Leu
NM_001077183.3:c.4394A>T	NP_001070651.1:p.Gln1465Leu
NM_001114382.3:c.4526A>T	NP_001107854.1:p.Gln1509Leu
NM_001318827.2:c.4286A>T	NP_001305756.1:p.Gln1429Leu
NM_001318829.2:c.4250A>T	NP_001305758.1:p.Gln1417Leu
NM_001318831.2:c.3863A>T	NP_001305760.1:p.Gln1288Leu
NM_001318832.2:c.4427A>T	NP_001305761.1:p.Gln1476Leu
NM_001363528.2:c.4397A>T	NP_001350457.1:p.Gln1466Leu
NM_021055.3:c.4466A>T	NP_066399.2:p.Gln1489Leu