Canonical Allele Identifier: CA2580090930

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1728340
• ClinVar RCV Id: RCV002322543

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079308_2079315dup , CM000678.2:g.2079308_2079315dup	GRCh38
NC_000016.9:g.2129309_2129316dup , CM000678.1:g.2129309_2129316dup	GRCh37
NC_000016.8:g.2069310_2069317dup	NCBI36
NG_005895.1:g.35003_35010dup , LRG_487:g.35003_35010dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1582_*1589dup	ENSP00000455997.2:n.*1582_*1589dup
ENST00000642206.2:c.3080_3087dup	ENSP00000495146.2:p.Lys1030AlafsTer15
ENST00000642365.2:c.3161_3168dup	ENSP00000495459.2:p.Lys1057AlafsTer15
ENST00000644417.2:c.*3613_*3620dup	ENSP00000493912.2:n.*3613_*3620dup
ENST00000646464.2:c.*4086_*4093dup	ENSP00000496610.2:n.*4086_*4093dup
ENST00000219476.9:c.3164_3171dup MANE Select	ENSP00000219476.3:p.Lys1058AlafsTer15
ENST00000350773.9:c.3164_3171dup	ENSP00000344383.4:p.Lys1058AlafsTer15
ENST00000401874.7:c.3032_3039dup	ENSP00000384468.2:p.Lys1014AlafsTer15
ENST00000471143.6:c.392_399dup	ENSP00000458541.2:n.392_399dup
ENST00000568366.6:n.521_528dup
ENST00000568454.6:c.3065_3072dup	ENSP00000454487.1:p.Lys1025AlafsTer15
ENST00000642365.1:c.1818_1825dup
ENST00000642561.1:c.3035_3042dup	ENSP00000495099.1:p.Lys1015AlafsTer15
ENST00000642797.1:c.3035_3042dup	ENSP00000493846.1:p.Lys1015AlafsTer15
ENST00000642936.1:c.3032_3039dup	ENSP00000494514.1:p.Lys1014AlafsTer15
ENST00000643088.1:c.3032_3039dup	ENSP00000494747.1:p.Lys1014AlafsTer15
ENST00000643946.1:c.3164_3171dup	ENSP00000495927.1:p.Lys1058AlafsTer15
ENST00000644043.1:c.3035_3042dup	ENSP00000496262.1:p.Lys1015AlafsTer15
ENST00000644329.1:c.3032_3039dup	ENSP00000496611.1:p.Lys1014AlafsTer15
ENST00000644335.1:c.3035_3042dup	ENSP00000496317.1:p.Lys1015AlafsTer15
ENST00000644399.1:c.3154_3161dup
ENST00000644722.1:n.310_317dup
ENST00000645024.1:n.1317_1324dup
ENST00000646388.1:c.3164_3171dup	ENSP00000495921.1:p.Lys1058AlafsTer15
ENST00000646634.1:n.2048_2055dup
ENST00000647042.1:n.456_463dup
ENST00000219476.7:c.3164_3171dup	ENSP00000219476.3:p.Lys1058AlafsTer15
ENST00000350773.8:c.3164_3171dup	ENSP00000344383.4:p.Lys1058AlafsTer15
ENST00000382538.10:c.2888_2895dup	ENSP00000371978.6:p.Lys966AlafsTer15
ENST00000401874.6:c.3032_3039dup	ENSP00000384468.2:p.Lys1014AlafsTer15
ENST00000439117.6:c.*2331_*2338dup	ENSP00000406980.2:n.*2331_*2338dup
ENST00000439673.6:c.2924_2931dup	ENSP00000399232.2:p.Lys978AlafsTer15
ENST00000471143.5:c.390_397dup
ENST00000483020.5:c.404_411dup	ENSP00000460310.1:n.404_411dup
ENST00000497886.5:n.991_998dup
ENST00000561695.1:n.389_396dup
ENST00000568366.5:n.521_528dup
ENST00000568454.5:c.3065_3072dup	ENSP00000454487.1:p.Lys1025AlafsTer15
NM_000548.3:c.3164_3171dup , LRG_487t1:c.3164_3171dup	NP_000539.2:p.Lys1058AlafsTer15
NM_001077183.1:c.3032_3039dup	NP_001070651.1:p.Lys1014AlafsTer15
NM_001114382.1:c.3164_3171dup	NP_001107854.1:p.Lys1058AlafsTer15
XM_005255529.3:c.3035_3042dup	XP_005255586.2:p.Lys1015AlafsTer15
XM_005255531.3:c.3035_3042dup	XP_005255588.2:p.Lys1015AlafsTer15
XM_011522636.1:c.3164_3171dup	XP_011520938.1:p.Lys1058AlafsTer15
XM_011522637.1:c.3161_3168dup	XP_011520939.1:p.Lys1057AlafsTer15
XM_011522638.1:c.3053_3060dup	XP_011520940.1:p.Lys1021AlafsTer15
XM_011522639.1:c.3035_3042dup	XP_011520941.1:p.Lys1015AlafsTer15
XM_011522640.1:c.3032_3039dup	XP_011520942.1:p.Lys1014AlafsTer15
XM_011522641.1:c.2924_2931dup	XP_011520943.1:p.Lys978AlafsTer15
NM_000548.4:c.3164_3171dup	NP_000539.2:p.Lys1058AlafsTer15
NM_001077183.2:c.3032_3039dup	NP_001070651.1:p.Lys1014AlafsTer15
NM_001114382.2:c.3164_3171dup	NP_001107854.1:p.Lys1058AlafsTer15
NM_001318827.1:c.2924_2931dup	NP_001305756.1:p.Lys978AlafsTer15
NM_001318829.1:c.2888_2895dup	NP_001305758.1:p.Lys966AlafsTer15
NM_001318831.1:c.2432_2439dup	NP_001305760.1:p.Lys814AlafsTer15
NM_001318832.1:c.3065_3072dup	NP_001305761.1:p.Lys1025AlafsTer15
NM_001363528.1:c.3035_3042dup	NP_001350457.1:p.Lys1015AlafsTer15
NM_021055.2:c.3035_3042dup	NP_066399.2:p.Lys1015AlafsTer15
XM_005255531.4:c.3035_3042dup	XP_005255588.2:p.Lys1015AlafsTer15
XM_011522636.2:c.3164_3171dup	XP_011520938.1:p.Lys1058AlafsTer15
XM_011522637.2:c.3161_3168dup	XP_011520939.1:p.Lys1057AlafsTer15
XM_011522638.2:c.3326_3333dup	XP_011520940.2:p.Lys1112AlafsTer15
XM_011522639.2:c.3035_3042dup	XP_011520941.1:p.Lys1015AlafsTer15
XM_011522640.2:c.3032_3039dup	XP_011520942.1:p.Lys1014AlafsTer15
XM_017023615.1:c.3161_3168dup	XP_016879104.1:p.Lys1057AlafsTer15
XM_017023616.1:c.3032_3039dup	XP_016879105.1:p.Lys1014AlafsTer15
XM_017023617.1:c.3197_3204dup	XP_016879106.1:p.Lys1069AlafsTer15
XM_017023618.1:c.1820_1827dup	XP_016879107.1:p.Lys610AlafsTer15
XM_024450413.1:c.3032_3039dup	XP_024306181.1:p.Lys1014AlafsTer15
NM_000548.5:c.3164_3171dup MANE Select	NP_000539.2:p.Lys1058AlafsTer15
NM_001370404.1:c.3032_3039dup	NP_001357333.1:p.Lys1014AlafsTer15
NM_001370405.1:c.3035_3042dup	NP_001357334.1:p.Lys1015AlafsTer15
NM_001077183.3:c.3032_3039dup	NP_001070651.1:p.Lys1014AlafsTer15
NM_001114382.3:c.3164_3171dup	NP_001107854.1:p.Lys1058AlafsTer15
NM_001318827.2:c.2924_2931dup	NP_001305756.1:p.Lys978AlafsTer15
NM_001318829.2:c.2888_2895dup	NP_001305758.1:p.Lys966AlafsTer15
NM_001318831.2:c.2432_2439dup	NP_001305760.1:p.Lys814AlafsTer15
NM_001318832.2:c.3065_3072dup	NP_001305761.1:p.Lys1025AlafsTer15
NM_001363528.2:c.3035_3042dup	NP_001350457.1:p.Lys1015AlafsTer15
NM_021055.3:c.3035_3042dup	NP_066399.2:p.Lys1015AlafsTer15