Canonical Allele Identifier: CA2499223329

Gene: TSC2

Linked Data

• ClinVar Variation Id: 1075287
• ClinVar RCV Id: RCV001388843
• dbSNP Id: rs2151481415

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081637_2081638del , CM000678.2:g.2081637_2081638del	GRCh38
NC_000016.9:g.2131638_2131639del , CM000678.1:g.2131638_2131639del	GRCh37
NC_000016.8:g.2071639_2071640del	NCBI36
NG_005895.1:g.37332_37333del , LRG_487:g.37332_37333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2071_*2072del	ENSP00000455997.2:n.*2071_*2072del
ENST00000642206.2:c.3569_3570del	ENSP00000495146.2:p.Pro1190LeufsTer15
ENST00000642365.2:c.3650_3651del	ENSP00000495459.2:p.Pro1217LeufsTer15
ENST00000644417.2:c.*4102_*4103del	ENSP00000493912.2:n.*4102_*4103del
ENST00000646464.2:c.*4575_*4576del	ENSP00000496610.2:n.*4575_*4576del
ENST00000219476.9:c.3653_3654del MANE Select	ENSP00000219476.3:p.Pro1218LeufsTer15
ENST00000350773.9:c.3653_3654del	ENSP00000344383.4:p.Pro1218LeufsTer15
ENST00000401874.7:c.3521_3522del	ENSP00000384468.2:p.Pro1174LeufsTer15
ENST00000568454.6:c.3554_3555del	ENSP00000454487.1:p.Pro1185LeufsTer15
ENST00000642365.1:c.2307_2308del
ENST00000642561.1:c.3524_3525del	ENSP00000495099.1:p.Pro1175LeufsTer15
ENST00000642797.1:c.3524_3525del	ENSP00000493846.1:p.Pro1175LeufsTer15
ENST00000642936.1:c.3521_3522del	ENSP00000494514.1:p.Pro1174LeufsTer15
ENST00000643088.1:c.3521_3522del	ENSP00000494747.1:p.Pro1174LeufsTer15
ENST00000643426.1:n.1301_1302del
ENST00000643533.1:n.163_164del
ENST00000643946.1:c.3653_3654del	ENSP00000495927.1:p.Pro1218LeufsTer15
ENST00000644043.1:c.3524_3525del	ENSP00000496262.1:p.Pro1175LeufsTer15
ENST00000644329.1:c.3521_3522del	ENSP00000496611.1:p.Pro1174LeufsTer15
ENST00000644335.1:c.3524_3525del	ENSP00000496317.1:p.Pro1175LeufsTer15
ENST00000644399.1:c.3643_3644del
ENST00000644722.1:n.799_800del
ENST00000645024.1:n.1806_1807del
ENST00000646388.1:c.3653_3654del	ENSP00000495921.1:p.Pro1218LeufsTer15
ENST00000646634.1:n.2537_2538del
ENST00000646674.1:n.268_269del
ENST00000647042.1:n.945_946del
ENST00000647180.1:n.133_134del
ENST00000219476.7:c.3653_3654del	ENSP00000219476.3:p.Pro1218LeufsTer15
ENST00000350773.8:c.3653_3654del	ENSP00000344383.4:p.Pro1218LeufsTer15
ENST00000382538.10:c.3377_3378del	ENSP00000371978.6:p.Pro1126LeufsTer15
ENST00000401874.6:c.3521_3522del	ENSP00000384468.2:p.Pro1174LeufsTer15
ENST00000439117.6:c.*2820_*2821del	ENSP00000406980.2:n.*2820_*2821del
ENST00000439673.6:c.3413_3414del	ENSP00000399232.2:p.Pro1138LeufsTer15
ENST00000497886.5:n.1480_1481del
ENST00000568454.5:c.3554_3555del	ENSP00000454487.1:p.Pro1185LeufsTer15
NM_000548.3:c.3653_3654del , LRG_487t1:c.3653_3654del	NP_000539.2:p.Pro1218LeufsTer15
NM_001077183.1:c.3521_3522del	NP_001070651.1:p.Pro1174LeufsTer15
NM_001114382.1:c.3653_3654del	NP_001107854.1:p.Pro1218LeufsTer15
XM_005255529.3:c.3524_3525del	XP_005255586.2:p.Pro1175LeufsTer15
XM_005255531.3:c.3524_3525del	XP_005255588.2:p.Pro1175LeufsTer15
XM_011522636.1:c.3653_3654del	XP_011520938.1:p.Pro1218LeufsTer15
XM_011522637.1:c.3650_3651del	XP_011520939.1:p.Pro1217LeufsTer15
XM_011522638.1:c.3542_3543del	XP_011520940.1:p.Pro1181LeufsTer15
XM_011522639.1:c.3524_3525del	XP_011520941.1:p.Pro1175LeufsTer15
XM_011522640.1:c.3521_3522del	XP_011520942.1:p.Pro1174LeufsTer15
XM_011522641.1:c.3413_3414del	XP_011520943.1:p.Pro1138LeufsTer15
NM_000548.4:c.3653_3654del	NP_000539.2:p.Pro1218LeufsTer15
NM_001077183.2:c.3521_3522del	NP_001070651.1:p.Pro1174LeufsTer15
NM_001114382.2:c.3653_3654del	NP_001107854.1:p.Pro1218LeufsTer15
NM_001318827.1:c.3413_3414del	NP_001305756.1:p.Pro1138LeufsTer15
NM_001318829.1:c.3377_3378del	NP_001305758.1:p.Pro1126LeufsTer15
NM_001318831.1:c.2921_2922del	NP_001305760.1:p.Pro974LeufsTer15
NM_001318832.1:c.3554_3555del	NP_001305761.1:p.Pro1185LeufsTer15
NM_001363528.1:c.3524_3525del	NP_001350457.1:p.Pro1175LeufsTer15
NM_021055.2:c.3524_3525del	NP_066399.2:p.Pro1175LeufsTer15
XM_005255531.4:c.3524_3525del	XP_005255588.2:p.Pro1175LeufsTer15
XM_011522636.2:c.3653_3654del	XP_011520938.1:p.Pro1218LeufsTer15
XM_011522637.2:c.3650_3651del	XP_011520939.1:p.Pro1217LeufsTer15
XM_011522638.2:c.3815_3816del	XP_011520940.2:p.Pro1272LeufsTer15
XM_011522639.2:c.3524_3525del	XP_011520941.1:p.Pro1175LeufsTer15
XM_011522640.2:c.3521_3522del	XP_011520942.1:p.Pro1174LeufsTer15
XM_017023615.1:c.3650_3651del	XP_016879104.1:p.Pro1217LeufsTer15
XM_017023616.1:c.3521_3522del	XP_016879105.1:p.Pro1174LeufsTer15
XM_017023617.1:c.3686_3687del	XP_016879106.1:p.Pro1229LeufsTer15
XM_017023618.1:c.2309_2310del	XP_016879107.1:p.Pro770LeufsTer15
XM_024450413.1:c.3521_3522del	XP_024306181.1:p.Pro1174LeufsTer15
NM_000548.5:c.3653_3654del MANE Select	NP_000539.2:p.Pro1218LeufsTer15
NM_001370404.1:c.3521_3522del	NP_001357333.1:p.Pro1174LeufsTer15
NM_001370405.1:c.3524_3525del	NP_001357334.1:p.Pro1175LeufsTer15
NM_001077183.3:c.3521_3522del	NP_001070651.1:p.Pro1174LeufsTer15
NM_001114382.3:c.3653_3654del	NP_001107854.1:p.Pro1218LeufsTer15
NM_001318827.2:c.3413_3414del	NP_001305756.1:p.Pro1138LeufsTer15
NM_001318829.2:c.3377_3378del	NP_001305758.1:p.Pro1126LeufsTer15
NM_001318831.2:c.2921_2922del	NP_001305760.1:p.Pro974LeufsTer15
NM_001318832.2:c.3554_3555del	NP_001305761.1:p.Pro1185LeufsTer15
NM_001363528.2:c.3524_3525del	NP_001350457.1:p.Pro1175LeufsTer15
NM_021055.3:c.3524_3525del	NP_066399.2:p.Pro1175LeufsTer15