Canonical Allele Identifier: CA394304516

Gene: TSC2

Linked Data

• MyVariant Identifiers: chr16:g.2135256A>C (hg19) ; chr16:g.2085255A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2944A>C	ENSP00000455997.2:n.*2944A>C
ENST00000642206.2:c.4442A>C	ENSP00000495146.2:p.Gln1481Pro
ENST00000642365.2:c.4592A>C	ENSP00000495459.2:p.Gln1531Pro
ENST00000644417.2:c.*4975A>C	ENSP00000493912.2:n.*4975A>C
ENST00000646464.2:c.*7344A>C	ENSP00000496610.2:n.*7344A>C
ENST00000219476.9:c.4595A>C MANE Select	ENSP00000219476.3:p.Gln1532Pro
ENST00000350773.9:c.4526A>C	ENSP00000344383.4:p.Gln1509Pro
ENST00000401874.7:c.4394A>C	ENSP00000384468.2:p.Gln1465Pro
ENST00000568454.6:c.4427A>C	ENSP00000454487.1:p.Gln1476Pro
ENST00000569110.2:c.818A>C
ENST00000569930.2:n.2477A>C
ENST00000642365.1:c.3249A>C
ENST00000642561.1:c.4466A>C	ENSP00000495099.1:p.Gln1489Pro
ENST00000642728.1:n.777A>C
ENST00000642791.1:n.192A>C
ENST00000642797.1:c.4397A>C	ENSP00000493846.1:p.Gln1466Pro
ENST00000642936.1:c.4463A>C	ENSP00000494514.1:p.Gln1488Pro
ENST00000643088.1:c.4388A>C	ENSP00000494747.1:p.Gln1463Pro
ENST00000643177.1:n.609A>C
ENST00000643426.1:n.2243A>C
ENST00000643946.1:c.4520A>C	ENSP00000495927.1:p.Gln1507Pro
ENST00000644043.1:c.4466A>C	ENSP00000496262.1:p.Gln1489Pro
ENST00000644278.1:n.77A>C
ENST00000644329.1:c.4394A>C	ENSP00000496611.1:p.Gln1465Pro
ENST00000644335.1:c.4391A>C	ENSP00000496317.1:p.Gln1464Pro
ENST00000644399.1:c.4516A>C
ENST00000645024.1:n.2679A>C
ENST00000646388.1:c.4589A>C	ENSP00000495921.1:p.Gln1530Pro
ENST00000646634.1:n.3410A>C
ENST00000646674.1:n.1847A>C
ENST00000647042.1:n.1818A>C
ENST00000647180.1:n.1708A>C
ENST00000219476.7:c.4595A>C	ENSP00000219476.3:p.Gln1532Pro
ENST00000350773.8:c.4526A>C	ENSP00000344383.4:p.Gln1509Pro
ENST00000382538.10:c.4250A>C	ENSP00000371978.6:p.Gln1417Pro
ENST00000401874.6:c.4394A>C	ENSP00000384468.2:p.Gln1465Pro
ENST00000439117.6:c.*3762A>C	ENSP00000406980.2:n.*3762A>C
ENST00000439673.6:c.4286A>C	ENSP00000399232.2:p.Gln1429Pro
ENST00000497886.5:n.2353A>C
ENST00000568454.5:c.4427A>C	ENSP00000454487.1:p.Gln1476Pro
ENST00000569110.1:c.777A>C
ENST00000569930.1:n.1710A>C
NM_000548.3:c.4595A>C , LRG_487t1:c.4595A>C	NP_000539.2:p.Gln1532Pro
NM_001077183.1:c.4394A>C	NP_001070651.1:p.Gln1465Pro
NM_001114382.1:c.4526A>C	NP_001107854.1:p.Gln1509Pro
XM_005255529.3:c.4466A>C	XP_005255586.2:p.Gln1489Pro
XM_005255531.3:c.4397A>C	XP_005255588.2:p.Gln1466Pro
XM_011522636.1:c.4649A>C	XP_011520938.1:p.Gln1550Pro
XM_011522637.1:c.4646A>C	XP_011520939.1:p.Gln1549Pro
XM_011522638.1:c.4538A>C	XP_011520940.1:p.Gln1513Pro
XM_011522639.1:c.4520A>C	XP_011520941.1:p.Gln1507Pro
XM_011522640.1:c.4517A>C	XP_011520942.1:p.Gln1506Pro
XM_011522641.1:c.4286A>C	XP_011520943.1:p.Gln1429Pro
NM_000548.4:c.4595A>C	NP_000539.2:p.Gln1532Pro
NM_001077183.2:c.4394A>C	NP_001070651.1:p.Gln1465Pro
NM_001114382.2:c.4526A>C	NP_001107854.1:p.Gln1509Pro
NM_001318827.1:c.4286A>C	NP_001305756.1:p.Gln1429Pro
NM_001318829.1:c.4250A>C	NP_001305758.1:p.Gln1417Pro
NM_001318831.1:c.3863A>C	NP_001305760.1:p.Gln1288Pro
NM_001318832.1:c.4427A>C	NP_001305761.1:p.Gln1476Pro
NM_001363528.1:c.4397A>C	NP_001350457.1:p.Gln1466Pro
NM_021055.2:c.4466A>C	NP_066399.2:p.Gln1489Pro
XM_005255531.4:c.4397A>C	XP_005255588.2:p.Gln1466Pro
XM_011522636.2:c.4649A>C	XP_011520938.1:p.Gln1550Pro
XM_011522637.2:c.4646A>C	XP_011520939.1:p.Gln1549Pro
XM_011522638.2:c.4811A>C	XP_011520940.2:p.Gln1604Pro
XM_011522639.2:c.4520A>C	XP_011520941.1:p.Gln1507Pro
XM_011522640.2:c.4517A>C	XP_011520942.1:p.Gln1506Pro
XM_017023615.1:c.4592A>C	XP_016879104.1:p.Gln1531Pro
XM_017023616.1:c.4463A>C	XP_016879105.1:p.Gln1488Pro
XM_017023617.1:c.4559A>C	XP_016879106.1:p.Gln1520Pro
XM_017023618.1:c.3305A>C	XP_016879107.1:p.Gln1102Pro
XM_024450413.1:c.4394A>C	XP_024306181.1:p.Gln1465Pro
NM_000548.5:c.4595A>C MANE Select	NP_000539.2:p.Gln1532Pro
NM_001370404.1:c.4463A>C	NP_001357333.1:p.Gln1488Pro
NM_001370405.1:c.4466A>C	NP_001357334.1:p.Gln1489Pro
NM_001077183.3:c.4394A>C	NP_001070651.1:p.Gln1465Pro
NM_001114382.3:c.4526A>C	NP_001107854.1:p.Gln1509Pro
NM_001318827.2:c.4286A>C	NP_001305756.1:p.Gln1429Pro
NM_001318829.2:c.4250A>C	NP_001305758.1:p.Gln1417Pro
NM_001318831.2:c.3863A>C	NP_001305760.1:p.Gln1288Pro
NM_001318832.2:c.4427A>C	NP_001305761.1:p.Gln1476Pro
NM_001363528.2:c.4397A>C	NP_001350457.1:p.Gln1466Pro
NM_021055.3:c.4466A>C	NP_066399.2:p.Gln1489Pro