Canonical Allele Identifier: CA915946288

Gene: TSC2

Linked Data

• ClinVar Variation Id: 803152
• ClinVar RCV Id: RCV000989428
• dbSNP Id: rs1596382268

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2079062_2079063dup , CM000678.2:g.2079062_2079063dup	GRCh38
NC_000016.9:g.2129063_2129064dup , CM000678.1:g.2129063_2129064dup	GRCh37
NC_000016.8:g.2069064_2069065dup	NCBI36
NG_005895.1:g.34757_34758dup , LRG_487:g.34757_34758dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000568566.6:c.*1415_*1416dup	ENSP00000455997.2:n.*1415_*1416dup
ENST00000642206.2:c.2913_2914dup	ENSP00000495146.2:p.Leu972SerfsTer17
ENST00000642365.2:c.2994_2995dup	ENSP00000495459.2:p.Leu999SerfsTer17
ENST00000644417.2:c.*3446_*3447dup	ENSP00000493912.2:n.*3446_*3447dup
ENST00000646464.2:c.*3919_*3920dup	ENSP00000496610.2:n.*3919_*3920dup
ENST00000219476.9:c.2997_2998dup MANE Select	ENSP00000219476.3:p.Leu1000SerfsTer17
ENST00000350773.9:c.2997_2998dup	ENSP00000344383.4:p.Leu1000SerfsTer17
ENST00000401874.7:c.2865_2866dup	ENSP00000384468.2:p.Leu956SerfsTer17
ENST00000471143.6:c.225_226dup	ENSP00000458541.2:n.225_226dup
ENST00000568366.6:n.354_355dup
ENST00000568454.6:c.2898_2899dup	ENSP00000454487.1:p.Leu967SerfsTer17
ENST00000642365.1:c.1651_1652dup
ENST00000642561.1:c.2868_2869dup	ENSP00000495099.1:p.Leu957SerfsTer17
ENST00000642797.1:c.2868_2869dup	ENSP00000493846.1:p.Leu957SerfsTer17
ENST00000642936.1:c.2865_2866dup	ENSP00000494514.1:p.Leu956SerfsTer17
ENST00000643088.1:c.2865_2866dup	ENSP00000494747.1:p.Leu956SerfsTer17
ENST00000643946.1:c.2997_2998dup	ENSP00000495927.1:p.Leu1000SerfsTer17
ENST00000644043.1:c.2868_2869dup	ENSP00000496262.1:p.Leu957SerfsTer17
ENST00000644329.1:c.2865_2866dup	ENSP00000496611.1:p.Leu956SerfsTer17
ENST00000644335.1:c.2868_2869dup	ENSP00000496317.1:p.Leu957SerfsTer17
ENST00000644399.1:c.2987_2988dup
ENST00000644722.1:n.143_144dup
ENST00000645024.1:n.1150_1151dup
ENST00000646388.1:c.2997_2998dup	ENSP00000495921.1:p.Leu1000SerfsTer17
ENST00000646634.1:n.1881_1882dup
ENST00000647042.1:n.289_290dup
ENST00000219476.7:c.2997_2998dup	ENSP00000219476.3:p.Leu1000SerfsTer17
ENST00000350773.8:c.2997_2998dup	ENSP00000344383.4:p.Leu1000SerfsTer17
ENST00000382538.10:c.2721_2722dup	ENSP00000371978.6:p.Leu908SerfsTer17
ENST00000401874.6:c.2865_2866dup	ENSP00000384468.2:p.Leu956SerfsTer17
ENST00000439117.6:c.*2164_*2165dup	ENSP00000406980.2:n.*2164_*2165dup
ENST00000439673.6:c.2757_2758dup	ENSP00000399232.2:p.Leu920SerfsTer17
ENST00000471143.5:c.223_224dup
ENST00000483020.5:c.237_238dup	ENSP00000460310.1:n.237_238dup
ENST00000497886.5:n.824_825dup
ENST00000561695.1:n.143_144dup
ENST00000568366.5:n.354_355dup
ENST00000568454.5:c.2898_2899dup	ENSP00000454487.1:p.Leu967SerfsTer17
NM_000548.3:c.2997_2998dup , LRG_487t1:c.2997_2998dup	NP_000539.2:p.Leu1000SerfsTer17
NM_001077183.1:c.2865_2866dup	NP_001070651.1:p.Leu956SerfsTer17
NM_001114382.1:c.2997_2998dup	NP_001107854.1:p.Leu1000SerfsTer17
XM_005255529.3:c.2868_2869dup	XP_005255586.2:p.Leu957SerfsTer17
XM_005255531.3:c.2868_2869dup	XP_005255588.2:p.Leu957SerfsTer17
XM_011522636.1:c.2997_2998dup	XP_011520938.1:p.Leu1000SerfsTer17
XM_011522637.1:c.2994_2995dup	XP_011520939.1:p.Leu999SerfsTer17
XM_011522638.1:c.2886_2887dup	XP_011520940.1:p.Leu963SerfsTer17
XM_011522639.1:c.2868_2869dup	XP_011520941.1:p.Leu957SerfsTer17
XM_011522640.1:c.2865_2866dup	XP_011520942.1:p.Leu956SerfsTer17
XM_011522641.1:c.2757_2758dup	XP_011520943.1:p.Leu920SerfsTer17
NM_000548.4:c.2997_2998dup	NP_000539.2:p.Leu1000SerfsTer17
NM_001077183.2:c.2865_2866dup	NP_001070651.1:p.Leu956SerfsTer17
NM_001114382.2:c.2997_2998dup	NP_001107854.1:p.Leu1000SerfsTer17
NM_001318827.1:c.2757_2758dup	NP_001305756.1:p.Leu920SerfsTer17
NM_001318829.1:c.2721_2722dup	NP_001305758.1:p.Leu908SerfsTer17
NM_001318831.1:c.2265_2266dup	NP_001305760.1:p.Leu756SerfsTer17
NM_001318832.1:c.2898_2899dup	NP_001305761.1:p.Leu967SerfsTer17
NM_001363528.1:c.2868_2869dup	NP_001350457.1:p.Leu957SerfsTer17
NM_021055.2:c.2868_2869dup	NP_066399.2:p.Leu957SerfsTer17
XM_005255531.4:c.2868_2869dup	XP_005255588.2:p.Leu957SerfsTer17
XM_011522636.2:c.2997_2998dup	XP_011520938.1:p.Leu1000SerfsTer17
XM_011522637.2:c.2994_2995dup	XP_011520939.1:p.Leu999SerfsTer17
XM_011522638.2:c.3159_3160dup	XP_011520940.2:p.Leu1054SerfsTer17
XM_011522639.2:c.2868_2869dup	XP_011520941.1:p.Leu957SerfsTer17
XM_011522640.2:c.2865_2866dup	XP_011520942.1:p.Leu956SerfsTer17
XM_017023615.1:c.2994_2995dup	XP_016879104.1:p.Leu999SerfsTer17
XM_017023616.1:c.2865_2866dup	XP_016879105.1:p.Leu956SerfsTer17
XM_017023617.1:c.3030_3031dup	XP_016879106.1:p.Leu1011SerfsTer17
XM_017023618.1:c.1653_1654dup	XP_016879107.1:p.Leu552SerfsTer17
XM_024450413.1:c.2865_2866dup	XP_024306181.1:p.Leu956SerfsTer17
NM_000548.5:c.2997_2998dup MANE Select	NP_000539.2:p.Leu1000SerfsTer17
NM_001370404.1:c.2865_2866dup	NP_001357333.1:p.Leu956SerfsTer17
NM_001370405.1:c.2868_2869dup	NP_001357334.1:p.Leu957SerfsTer17
NM_001077183.3:c.2865_2866dup	NP_001070651.1:p.Leu956SerfsTer17
NM_001114382.3:c.2997_2998dup	NP_001107854.1:p.Leu1000SerfsTer17
NM_001318827.2:c.2757_2758dup	NP_001305756.1:p.Leu920SerfsTer17
NM_001318829.2:c.2721_2722dup	NP_001305758.1:p.Leu908SerfsTer17
NM_001318831.2:c.2265_2266dup	NP_001305760.1:p.Leu756SerfsTer17
NM_001318832.2:c.2898_2899dup	NP_001305761.1:p.Leu967SerfsTer17
NM_001363528.2:c.2868_2869dup	NP_001350457.1:p.Leu957SerfsTer17
NM_021055.3:c.2868_2869dup	NP_066399.2:p.Leu957SerfsTer17