Canonical Allele Identifier: CA2580090867

Gene: TSC2

Linked Data

• ClinVar Variation Id: 2017285
• ClinVar RCV Id: RCV002856712

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2076077_2076079dup , CM000678.2:g.2076077_2076079dup	GRCh38
NC_000016.9:g.2126078_2126080dup , CM000678.1:g.2126078_2126080dup	GRCh37
NC_000016.8:g.2066079_2066081dup	NCBI36
NG_005895.1:g.31772_31774dup , LRG_487:g.31772_31774dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*1196_*1198dup	ENSP00000455997.2:n.*1196_*1198dup
ENST00000642206.2:c.2694_2696dup	ENSP00000495146.2:p.Tyr899Ter
ENST00000642365.2:c.2649_2651dup	ENSP00000495459.2:p.Tyr884Ter
ENST00000644417.2:c.*2086_*2088dup	ENSP00000493912.2:n.*2086_*2088dup
ENST00000646464.2:c.*3703_*3705dup	ENSP00000496610.2:n.*3703_*3705dup
ENST00000219476.9:c.2649_2651dup MANE Select	ENSP00000219476.3:p.Tyr884Ter
ENST00000350773.9:c.2649_2651dup	ENSP00000344383.4:p.Tyr884Ter
ENST00000401874.7:c.2649_2651dup	ENSP00000384468.2:p.Tyr884Ter
ENST00000568454.6:c.2682_2684dup	ENSP00000454487.1:p.Tyr895Ter
ENST00000642365.1:c.1306_1308dup
ENST00000642561.1:c.2649_2651dup	ENSP00000495099.1:p.Tyr884Ter
ENST00000642797.1:c.2649_2651dup	ENSP00000493846.1:p.Tyr884Ter
ENST00000642936.1:c.2649_2651dup	ENSP00000494514.1:p.Tyr884Ter
ENST00000643088.1:c.2649_2651dup	ENSP00000494747.1:p.Tyr884Ter
ENST00000643298.1:c.*2151_*2153dup	ENSP00000494393.1:n.*2151_*2153dup
ENST00000643946.1:c.2649_2651dup	ENSP00000495927.1:p.Tyr884Ter
ENST00000644043.1:c.2649_2651dup	ENSP00000496262.1:p.Tyr884Ter
ENST00000644329.1:c.2649_2651dup	ENSP00000496611.1:p.Tyr884Ter
ENST00000644335.1:c.2649_2651dup	ENSP00000496317.1:p.Tyr884Ter
ENST00000644399.1:c.2642_2644dup
ENST00000645024.1:n.931_933dup
ENST00000646388.1:c.2649_2651dup	ENSP00000495921.1:p.Tyr884Ter
ENST00000646634.1:n.1662_1664dup
ENST00000219476.7:c.2649_2651dup	ENSP00000219476.3:p.Tyr884Ter
ENST00000350773.8:c.2649_2651dup	ENSP00000344383.4:p.Tyr884Ter
ENST00000382538.10:c.2502_2504dup	ENSP00000371978.6:p.Tyr835Ter
ENST00000401874.6:c.2649_2651dup	ENSP00000384468.2:p.Tyr884Ter
ENST00000439117.6:c.*1948_*1950dup	ENSP00000406980.2:n.*1948_*1950dup
ENST00000439673.6:c.2538_2540dup	ENSP00000399232.2:p.Tyr847Ter
ENST00000568454.5:c.2682_2684dup	ENSP00000454487.1:p.Tyr895Ter
NM_000548.3:c.2649_2651dup , LRG_487t1:c.2649_2651dup	NP_000539.2:p.Tyr884Ter
NM_001077183.1:c.2649_2651dup	NP_001070651.1:p.Tyr884Ter
NM_001114382.1:c.2649_2651dup	NP_001107854.1:p.Tyr884Ter
XM_005255529.3:c.2649_2651dup	XP_005255586.2:p.Tyr884Ter
XM_005255531.3:c.2649_2651dup	XP_005255588.2:p.Tyr884Ter
XM_011522636.1:c.2649_2651dup	XP_011520938.1:p.Tyr884Ter
XM_011522637.1:c.2649_2651dup	XP_011520939.1:p.Tyr884Ter
XM_011522638.1:c.2538_2540dup	XP_011520940.1:p.Tyr847Ter
XM_011522639.1:c.2649_2651dup	XP_011520941.1:p.Tyr884Ter
XM_011522640.1:c.2649_2651dup	XP_011520942.1:p.Tyr884Ter
XM_011522641.1:c.2538_2540dup	XP_011520943.1:p.Tyr847Ter
NM_000548.4:c.2649_2651dup	NP_000539.2:p.Tyr884Ter
NM_001077183.2:c.2649_2651dup	NP_001070651.1:p.Tyr884Ter
NM_001114382.2:c.2649_2651dup	NP_001107854.1:p.Tyr884Ter
NM_001318827.1:c.2538_2540dup	NP_001305756.1:p.Tyr847Ter
NM_001318829.1:c.2502_2504dup	NP_001305758.1:p.Tyr835Ter
NM_001318831.1:c.2049_2051dup	NP_001305760.1:p.Tyr684Ter
NM_001318832.1:c.2682_2684dup	NP_001305761.1:p.Tyr895Ter
NM_001363528.1:c.2649_2651dup	NP_001350457.1:p.Tyr884Ter
NM_021055.2:c.2649_2651dup	NP_066399.2:p.Tyr884Ter
XM_005255531.4:c.2649_2651dup	XP_005255588.2:p.Tyr884Ter
XM_011522636.2:c.2649_2651dup	XP_011520938.1:p.Tyr884Ter
XM_011522637.2:c.2649_2651dup	XP_011520939.1:p.Tyr884Ter
XM_011522638.2:c.2811_2813dup	XP_011520940.2:p.Tyr938Ter
XM_011522639.2:c.2649_2651dup	XP_011520941.1:p.Tyr884Ter
XM_011522640.2:c.2649_2651dup	XP_011520942.1:p.Tyr884Ter
XM_017023615.1:c.2649_2651dup	XP_016879104.1:p.Tyr884Ter
XM_017023616.1:c.2649_2651dup	XP_016879105.1:p.Tyr884Ter
XM_017023617.1:c.2811_2813dup	XP_016879106.1:p.Tyr938Ter
XM_017023618.1:c.1305_1307dup	XP_016879107.1:p.Tyr436Ter
XM_024450413.1:c.2649_2651dup	XP_024306181.1:p.Tyr884Ter
NM_000548.5:c.2649_2651dup MANE Select	NP_000539.2:p.Tyr884Ter
NM_001370404.1:c.2649_2651dup	NP_001357333.1:p.Tyr884Ter
NM_001370405.1:c.2649_2651dup	NP_001357334.1:p.Tyr884Ter
NM_001077183.3:c.2649_2651dup	NP_001070651.1:p.Tyr884Ter
NM_001114382.3:c.2649_2651dup	NP_001107854.1:p.Tyr884Ter
NM_001318827.2:c.2538_2540dup	NP_001305756.1:p.Tyr847Ter
NM_001318829.2:c.2502_2504dup	NP_001305758.1:p.Tyr835Ter
NM_001318831.2:c.2049_2051dup	NP_001305760.1:p.Tyr684Ter
NM_001318832.2:c.2682_2684dup	NP_001305761.1:p.Tyr895Ter
NM_001363528.2:c.2649_2651dup	NP_001350457.1:p.Tyr884Ter
NM_021055.3:c.2649_2651dup	NP_066399.2:p.Tyr884Ter