Canonical Allele Identifier: CA2202019351

Gene: TSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2085274A= , CM000678.2:g.2085274A=	GRCh38
NC_000016.9:g.2135275A= , CM000678.1:g.2135275A=	GRCh37
NC_000016.8:g.2075276A=	NCBI36
NG_005895.1:g.40969A= , LRG_487:g.40969A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2963A=	ENSP00000455997.2:n.*2963A=
ENST00000642206.2:c.4461A=	ENSP00000495146.2:p.Pro1487=
ENST00000642365.2:c.4611A=	ENSP00000495459.2:p.Pro1537=
ENST00000644417.2:c.*4994A=	ENSP00000493912.2:n.*4994A=
ENST00000646464.2:c.*7363A=	ENSP00000496610.2:n.*7363A=
ENST00000219476.9:c.4614A= MANE Select	ENSP00000219476.3:p.Pro1538=
ENST00000350773.9:c.4545A=	ENSP00000344383.4:p.Pro1515=
ENST00000401874.7:c.4413A=	ENSP00000384468.2:p.Pro1471=
ENST00000568454.6:c.4446A=	ENSP00000454487.1:p.Pro1482=
ENST00000569110.2:c.837A=
ENST00000569930.2:n.2496A=
ENST00000642365.1:c.3268A=
ENST00000642561.1:c.4485A=	ENSP00000495099.1:p.Pro1495=
ENST00000642728.1:n.796A=
ENST00000642791.1:n.211A=
ENST00000642797.1:c.4416A=	ENSP00000493846.1:p.Pro1472=
ENST00000642936.1:c.4482A=	ENSP00000494514.1:p.Pro1494=
ENST00000643088.1:c.4407A=	ENSP00000494747.1:p.Pro1469=
ENST00000643177.1:n.628A=
ENST00000643426.1:n.2262A=
ENST00000643946.1:c.4539A=	ENSP00000495927.1:p.Pro1513=
ENST00000644043.1:c.4485A=	ENSP00000496262.1:p.Pro1495=
ENST00000644278.1:n.96A=
ENST00000644329.1:c.4413A=	ENSP00000496611.1:p.Pro1471=
ENST00000644335.1:c.4410A=	ENSP00000496317.1:p.Pro1470=
ENST00000644399.1:c.4535A=
ENST00000645024.1:n.2698A=
ENST00000646388.1:c.4608A=	ENSP00000495921.1:p.Pro1536=
ENST00000646634.1:n.3429A=
ENST00000646674.1:n.1866A=
ENST00000647042.1:n.1837A=
ENST00000647180.1:n.1727A=
ENST00000219476.7:c.4614A=	ENSP00000219476.3:p.Pro1538=
ENST00000350773.8:c.4545A=	ENSP00000344383.4:p.Pro1515=
ENST00000382538.10:c.4269A=	ENSP00000371978.6:p.Pro1423=
ENST00000401874.6:c.4413A=	ENSP00000384468.2:p.Pro1471=
ENST00000439117.6:c.*3781A=	ENSP00000406980.2:n.*3781A=
ENST00000439673.6:c.4305A=	ENSP00000399232.2:p.Pro1435=
ENST00000497886.5:n.2372A=
ENST00000568454.5:c.4446A=	ENSP00000454487.1:p.Pro1482=
ENST00000569110.1:c.796A=
ENST00000569930.1:n.1729A=
NM_000548.3:c.4614A= , LRG_487t1:c.4614A=	NP_000539.2:p.Pro1538=
NM_001077183.1:c.4413A=	NP_001070651.1:p.Pro1471=
NM_001114382.1:c.4545A=	NP_001107854.1:p.Pro1515=
XM_005255529.3:c.4485A=	XP_005255586.2:p.Pro1495=
XM_005255531.3:c.4416A=	XP_005255588.2:p.Pro1472=
XM_011522636.1:c.4668A=	XP_011520938.1:p.Pro1556=
XM_011522637.1:c.4665A=	XP_011520939.1:p.Pro1555=
XM_011522638.1:c.4557A=	XP_011520940.1:p.Pro1519=
XM_011522639.1:c.4539A=	XP_011520941.1:p.Pro1513=
XM_011522640.1:c.4536A=	XP_011520942.1:p.Pro1512=
XM_011522641.1:c.4305A=	XP_011520943.1:p.Pro1435=
NM_000548.4:c.4614A=	NP_000539.2:p.Pro1538=
NM_001077183.2:c.4413A=	NP_001070651.1:p.Pro1471=
NM_001114382.2:c.4545A=	NP_001107854.1:p.Pro1515=
NM_001318827.1:c.4305A=	NP_001305756.1:p.Pro1435=
NM_001318829.1:c.4269A=	NP_001305758.1:p.Pro1423=
NM_001318831.1:c.3882A=	NP_001305760.1:p.Pro1294=
NM_001318832.1:c.4446A=	NP_001305761.1:p.Pro1482=
NM_001363528.1:c.4416A=	NP_001350457.1:p.Pro1472=
NM_021055.2:c.4485A=	NP_066399.2:p.Pro1495=
XM_005255531.4:c.4416A=	XP_005255588.2:p.Pro1472=
XM_011522636.2:c.4668A=	XP_011520938.1:p.Pro1556=
XM_011522637.2:c.4665A=	XP_011520939.1:p.Pro1555=
XM_011522638.2:c.4830A=	XP_011520940.2:p.Pro1610=
XM_011522639.2:c.4539A=	XP_011520941.1:p.Pro1513=
XM_011522640.2:c.4536A=	XP_011520942.1:p.Pro1512=
XM_017023615.1:c.4611A=	XP_016879104.1:p.Pro1537=
XM_017023616.1:c.4482A=	XP_016879105.1:p.Pro1494=
XM_017023617.1:c.4578A=	XP_016879106.1:p.Pro1526=
XM_017023618.1:c.3324A=	XP_016879107.1:p.Pro1108=
XM_024450413.1:c.4413A=	XP_024306181.1:p.Pro1471=
NM_000548.5:c.4614A= MANE Select	NP_000539.2:p.Pro1538=
NM_001370404.1:c.4482A=	NP_001357333.1:p.Pro1494=
NM_001370405.1:c.4485A=	NP_001357334.1:p.Pro1495=
NM_001077183.3:c.4413A=	NP_001070651.1:p.Pro1471=
NM_001114382.3:c.4545A=	NP_001107854.1:p.Pro1515=
NM_001318827.2:c.4305A=	NP_001305756.1:p.Pro1435=
NM_001318829.2:c.4269A=	NP_001305758.1:p.Pro1423=
NM_001318831.2:c.3882A=	NP_001305760.1:p.Pro1294=
NM_001318832.2:c.4446A=	NP_001305761.1:p.Pro1482=
NM_001363528.2:c.4416A=	NP_001350457.1:p.Pro1472=
NM_021055.3:c.4485A=	NP_066399.2:p.Pro1495=