Canonical Allele Identifier: CA2202019455

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085289C= , CM000678.2:g.2085289C=	GRCh38
NC_000016.9:g.2135290C= , CM000678.1:g.2135290C=	GRCh37
NC_000016.8:g.2075291C=	NCBI36
NG_005895.1:g.40984C= , LRG_487:g.40984C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2978C=	ENSP00000455997.2:n.*2978C=
ENST00000642206.2:c.4476C=	ENSP00000495146.2:p.His1492=
ENST00000642365.2:c.4626C=	ENSP00000495459.2:p.His1542=
ENST00000644417.2:c.*5009C=	ENSP00000493912.2:n.*5009C=
ENST00000646464.2:c.*7378C=	ENSP00000496610.2:n.*7378C=
ENST00000219476.9:c.4629C= MANE Select	ENSP00000219476.3:p.His1543=
ENST00000350773.9:c.4560C=	ENSP00000344383.4:p.His1520=
ENST00000401874.7:c.4428C=	ENSP00000384468.2:p.His1476=
ENST00000568454.6:c.4461C=	ENSP00000454487.1:p.His1487=
ENST00000569110.2:c.852C=
ENST00000569930.2:n.2511C=
ENST00000642365.1:c.3283C=
ENST00000642561.1:c.4500C=	ENSP00000495099.1:p.His1500=
ENST00000642728.1:n.811C=
ENST00000642791.1:n.226C=
ENST00000642797.1:c.4431C=	ENSP00000493846.1:p.His1477=
ENST00000642936.1:c.4497C=	ENSP00000494514.1:p.His1499=
ENST00000643088.1:c.4422C=	ENSP00000494747.1:p.His1474=
ENST00000643177.1:n.643C=
ENST00000643426.1:n.2277C=
ENST00000643946.1:c.4554C=	ENSP00000495927.1:p.His1518=
ENST00000644043.1:c.4500C=	ENSP00000496262.1:p.His1500=
ENST00000644278.1:n.111C=
ENST00000644329.1:c.4428C=	ENSP00000496611.1:p.His1476=
ENST00000644335.1:c.4425C=	ENSP00000496317.1:p.His1475=
ENST00000644399.1:c.4550C=
ENST00000645024.1:n.2713C=
ENST00000646388.1:c.4623C=	ENSP00000495921.1:p.His1541=
ENST00000646634.1:n.3444C=
ENST00000646674.1:n.1881C=
ENST00000647042.1:n.1852C=
ENST00000647180.1:n.1742C=
ENST00000219476.7:c.4629C=	ENSP00000219476.3:p.His1543=
ENST00000350773.8:c.4560C=	ENSP00000344383.4:p.His1520=
ENST00000382538.10:c.4284C=	ENSP00000371978.6:p.His1428=
ENST00000401874.6:c.4428C=	ENSP00000384468.2:p.His1476=
ENST00000439117.6:c.*3796C=	ENSP00000406980.2:n.*3796C=
ENST00000439673.6:c.4320C=	ENSP00000399232.2:p.His1440=
ENST00000497886.5:n.2387C=
ENST00000568454.5:c.4461C=	ENSP00000454487.1:p.His1487=
ENST00000569110.1:c.811C=
ENST00000569930.1:n.1744C=
NM_000548.3:c.4629C= , LRG_487t1:c.4629C=	NP_000539.2:p.His1543=
NM_001077183.1:c.4428C=	NP_001070651.1:p.His1476=
NM_001114382.1:c.4560C=	NP_001107854.1:p.His1520=
XM_005255529.3:c.4500C=	XP_005255586.2:p.His1500=
XM_005255531.3:c.4431C=	XP_005255588.2:p.His1477=
XM_011522636.1:c.4683C=	XP_011520938.1:p.His1561=
XM_011522637.1:c.4680C=	XP_011520939.1:p.His1560=
XM_011522638.1:c.4572C=	XP_011520940.1:p.His1524=
XM_011522639.1:c.4554C=	XP_011520941.1:p.His1518=
XM_011522640.1:c.4551C=	XP_011520942.1:p.His1517=
XM_011522641.1:c.4320C=	XP_011520943.1:p.His1440=
NM_000548.4:c.4629C=	NP_000539.2:p.His1543=
NM_001077183.2:c.4428C=	NP_001070651.1:p.His1476=
NM_001114382.2:c.4560C=	NP_001107854.1:p.His1520=
NM_001318827.1:c.4320C=	NP_001305756.1:p.His1440=
NM_001318829.1:c.4284C=	NP_001305758.1:p.His1428=
NM_001318831.1:c.3897C=	NP_001305760.1:p.His1299=
NM_001318832.1:c.4461C=	NP_001305761.1:p.His1487=
NM_001363528.1:c.4431C=	NP_001350457.1:p.His1477=
NM_021055.2:c.4500C=	NP_066399.2:p.His1500=
XM_005255531.4:c.4431C=	XP_005255588.2:p.His1477=
XM_011522636.2:c.4683C=	XP_011520938.1:p.His1561=
XM_011522637.2:c.4680C=	XP_011520939.1:p.His1560=
XM_011522638.2:c.4845C=	XP_011520940.2:p.His1615=
XM_011522639.2:c.4554C=	XP_011520941.1:p.His1518=
XM_011522640.2:c.4551C=	XP_011520942.1:p.His1517=
XM_017023615.1:c.4626C=	XP_016879104.1:p.His1542=
XM_017023616.1:c.4497C=	XP_016879105.1:p.His1499=
XM_017023617.1:c.4593C=	XP_016879106.1:p.His1531=
XM_017023618.1:c.3339C=	XP_016879107.1:p.His1113=
XM_024450413.1:c.4428C=	XP_024306181.1:p.His1476=
NM_000548.5:c.4629C= MANE Select	NP_000539.2:p.His1543=
NM_001370404.1:c.4497C=	NP_001357333.1:p.His1499=
NM_001370405.1:c.4500C=	NP_001357334.1:p.His1500=
NM_001077183.3:c.4428C=	NP_001070651.1:p.His1476=
NM_001114382.3:c.4560C=	NP_001107854.1:p.His1520=
NM_001318827.2:c.4320C=	NP_001305756.1:p.His1440=
NM_001318829.2:c.4284C=	NP_001305758.1:p.His1428=
NM_001318831.2:c.3897C=	NP_001305760.1:p.His1299=
NM_001318832.2:c.4461C=	NP_001305761.1:p.His1487=
NM_001363528.2:c.4431C=	NP_001350457.1:p.His1477=
NM_021055.3:c.4500C=	NP_066399.2:p.His1500=