Canonical Allele Identifier: CA2202018205

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2084996G= , CM000678.2:g.2084996G=	GRCh38
NC_000016.9:g.2134997G= , CM000678.1:g.2134997G=	GRCh37
NC_000016.8:g.2074998G=	NCBI36
NG_005895.1:g.40691G= , LRG_487:g.40691G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*2888G=	ENSP00000455997.2:n.*2888G=
ENST00000642206.2:c.4386G=	ENSP00000495146.2:p.Glu1462=
ENST00000642365.2:c.4536G=	ENSP00000495459.2:p.Glu1512=
ENST00000644417.2:c.*4919G=	ENSP00000493912.2:n.*4919G=
ENST00000646464.2:c.*7288G=	ENSP00000496610.2:n.*7288G=
ENST00000219476.9:c.4539G= MANE Select	ENSP00000219476.3:p.Glu1513=
ENST00000350773.9:c.4470G=	ENSP00000344383.4:p.Glu1490=
ENST00000401874.7:c.4338G=	ENSP00000384468.2:p.Glu1446=
ENST00000568454.6:c.4371G=	ENSP00000454487.1:p.Glu1457=
ENST00000569110.2:c.762G=
ENST00000569930.2:n.2421G=
ENST00000642365.1:c.3193G=
ENST00000642561.1:c.4410G=	ENSP00000495099.1:p.Glu1470=
ENST00000642728.1:n.721G=
ENST00000642797.1:c.4341G=	ENSP00000493846.1:p.Glu1447=
ENST00000642936.1:c.4407G=	ENSP00000494514.1:p.Glu1469=
ENST00000643088.1:c.4338G=	ENSP00000494747.1:p.Glu1446=
ENST00000643177.1:n.553G=
ENST00000643426.1:n.2187G=
ENST00000643946.1:c.4470G=	ENSP00000495927.1:p.Glu1490=
ENST00000644043.1:c.4410G=	ENSP00000496262.1:p.Glu1470=
ENST00000644329.1:c.4338G=	ENSP00000496611.1:p.Glu1446=
ENST00000644335.1:c.4341G=	ENSP00000496317.1:p.Glu1447=
ENST00000644399.1:c.4460G=
ENST00000645024.1:n.2623G=
ENST00000646388.1:c.4539G=	ENSP00000495921.1:p.Glu1513=
ENST00000646634.1:n.3354G=
ENST00000646674.1:n.1791G=
ENST00000647042.1:n.1762G=
ENST00000647180.1:n.1652G=
ENST00000219476.7:c.4539G=	ENSP00000219476.3:p.Glu1513=
ENST00000350773.8:c.4470G=	ENSP00000344383.4:p.Glu1490=
ENST00000382538.10:c.4194G=	ENSP00000371978.6:p.Glu1398=
ENST00000401874.6:c.4338G=	ENSP00000384468.2:p.Glu1446=
ENST00000439117.6:c.*3706G=	ENSP00000406980.2:n.*3706G=
ENST00000439673.6:c.4230G=	ENSP00000399232.2:p.Glu1410=
ENST00000497886.5:n.2297G=
ENST00000568454.5:c.4371G=	ENSP00000454487.1:p.Glu1457=
ENST00000569110.1:c.721G=
ENST00000569930.1:n.1654G=
NM_000548.3:c.4539G= , LRG_487t1:c.4539G=	NP_000539.2:p.Glu1513=
NM_001077183.1:c.4338G=	NP_001070651.1:p.Glu1446=
NM_001114382.1:c.4470G=	NP_001107854.1:p.Glu1490=
XM_005255529.3:c.4410G=	XP_005255586.2:p.Glu1470=
XM_005255531.3:c.4341G=	XP_005255588.2:p.Glu1447=
XM_011522636.1:c.4593G=	XP_011520938.1:p.Glu1531=
XM_011522637.1:c.4590G=	XP_011520939.1:p.Glu1530=
XM_011522638.1:c.4482G=	XP_011520940.1:p.Glu1494=
XM_011522639.1:c.4464G=	XP_011520941.1:p.Glu1488=
XM_011522640.1:c.4461G=	XP_011520942.1:p.Glu1487=
XM_011522641.1:c.4230G=	XP_011520943.1:p.Glu1410=
NM_000548.4:c.4539G=	NP_000539.2:p.Glu1513=
NM_001077183.2:c.4338G=	NP_001070651.1:p.Glu1446=
NM_001114382.2:c.4470G=	NP_001107854.1:p.Glu1490=
NM_001318827.1:c.4230G=	NP_001305756.1:p.Glu1410=
NM_001318829.1:c.4194G=	NP_001305758.1:p.Glu1398=
NM_001318831.1:c.3807G=	NP_001305760.1:p.Glu1269=
NM_001318832.1:c.4371G=	NP_001305761.1:p.Glu1457=
NM_001363528.1:c.4341G=	NP_001350457.1:p.Glu1447=
NM_021055.2:c.4410G=	NP_066399.2:p.Glu1470=
XM_005255531.4:c.4341G=	XP_005255588.2:p.Glu1447=
XM_011522636.2:c.4593G=	XP_011520938.1:p.Glu1531=
XM_011522637.2:c.4590G=	XP_011520939.1:p.Glu1530=
XM_011522638.2:c.4755G=	XP_011520940.2:p.Glu1585=
XM_011522639.2:c.4464G=	XP_011520941.1:p.Glu1488=
XM_011522640.2:c.4461G=	XP_011520942.1:p.Glu1487=
XM_017023615.1:c.4536G=	XP_016879104.1:p.Glu1512=
XM_017023616.1:c.4407G=	XP_016879105.1:p.Glu1469=
XM_017023617.1:c.4503G=	XP_016879106.1:p.Glu1501=
XM_017023618.1:c.3249G=	XP_016879107.1:p.Glu1083=
XM_024450413.1:c.4338G=	XP_024306181.1:p.Glu1446=
NM_000548.5:c.4539G= MANE Select	NP_000539.2:p.Glu1513=
NM_001370404.1:c.4407G=	NP_001357333.1:p.Glu1469=
NM_001370405.1:c.4410G=	NP_001357334.1:p.Glu1470=
NM_001077183.3:c.4338G=	NP_001070651.1:p.Glu1446=
NM_001114382.3:c.4470G=	NP_001107854.1:p.Glu1490=
NM_001318827.2:c.4230G=	NP_001305756.1:p.Glu1410=
NM_001318829.2:c.4194G=	NP_001305758.1:p.Glu1398=
NM_001318831.2:c.3807G=	NP_001305760.1:p.Glu1269=
NM_001318832.2:c.4371G=	NP_001305761.1:p.Glu1457=
NM_001363528.2:c.4341G=	NP_001350457.1:p.Glu1447=
NM_021055.3:c.4410G=	NP_066399.2:p.Glu1470=