Canonical Allele Identifier: CA019412

Gene: TSC2

Linked Data

• dbSNP Id: rs397514907
• MyVariant Identifiers: chr16:g.2131608_2131632del (hg19) ; chr16:g.2081607_2081631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2081607_2081631del , CM000678.2:g.2081607_2081631del	GRCh38
NC_000016.9:g.2131608_2131632del , CM000678.1:g.2131608_2131632del	GRCh37
NC_000016.8:g.2071609_2071633del	NCBI36
NG_005895.1:g.37302_37326del , LRG_487:g.37302_37326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*2041_*2065del	ENSP00000455997.2:n.*2041_*2065del
ENST00000642206.2:c.3539_3563del	ENSP00000495146.2:p.Trp1180SerfsTer?
ENST00000642365.2:c.3620_3644del	ENSP00000495459.2:p.Trp1207SerfsTer?
ENST00000644417.2:c.*4072_*4096del	ENSP00000493912.2:n.*4072_*4096del
ENST00000646464.2:c.*4545_*4569del	ENSP00000496610.2:n.*4545_*4569del
ENST00000219476.9:c.3623_3647del MANE Select	ENSP00000219476.3:p.Trp1208SerfsTer?
ENST00000350773.9:c.3623_3647del	ENSP00000344383.4:p.Trp1208SerfsTer?
ENST00000401874.7:c.3491_3515del	ENSP00000384468.2:p.Trp1164SerfsTer?
ENST00000568454.6:c.3524_3548del	ENSP00000454487.1:p.Trp1175SerfsTer?
ENST00000642365.1:c.2277_2301del
ENST00000642561.1:c.3494_3518del	ENSP00000495099.1:p.Trp1165SerfsTer?
ENST00000642797.1:c.3494_3518del	ENSP00000493846.1:p.Trp1165SerfsTer?
ENST00000642936.1:c.3491_3515del	ENSP00000494514.1:p.Trp1164SerfsTer?
ENST00000643088.1:c.3491_3515del	ENSP00000494747.1:p.Trp1164SerfsTer?
ENST00000643426.1:n.1271_1295del
ENST00000643533.1:n.133_157del
ENST00000643946.1:c.3623_3647del	ENSP00000495927.1:p.Trp1208SerfsTer?
ENST00000644043.1:c.3494_3518del	ENSP00000496262.1:p.Trp1165SerfsTer?
ENST00000644329.1:c.3491_3515del	ENSP00000496611.1:p.Trp1164SerfsTer?
ENST00000644335.1:c.3494_3518del	ENSP00000496317.1:p.Trp1165SerfsTer?
ENST00000644399.1:c.3613_3637del
ENST00000644722.1:n.769_793del
ENST00000645024.1:n.1776_1800del
ENST00000646388.1:c.3623_3647del	ENSP00000495921.1:p.Trp1208SerfsTer?
ENST00000646634.1:n.2507_2531del
ENST00000646674.1:n.238_262del
ENST00000647042.1:n.915_939del
ENST00000647180.1:n.103_127del
ENST00000219476.7:c.3623_3647del	ENSP00000219476.3:p.Trp1208SerfsTer?
ENST00000350773.8:c.3623_3647del	ENSP00000344383.4:p.Trp1208SerfsTer?
ENST00000382538.10:c.3347_3371del	ENSP00000371978.6:p.Trp1116SerfsTer?
ENST00000401874.6:c.3491_3515del	ENSP00000384468.2:p.Trp1164SerfsTer?
ENST00000439117.6:c.*2790_*2814del	ENSP00000406980.2:n.*2790_*2814del
ENST00000439673.6:c.3383_3407del	ENSP00000399232.2:p.Trp1128SerfsTer?
ENST00000497886.5:n.1450_1474del
ENST00000568454.5:c.3524_3548del	ENSP00000454487.1:p.Trp1175SerfsTer?
NM_000548.3:c.3623_3647del , LRG_487t1:c.3623_3647del	NP_000539.2:p.Trp1208SerfsTer?
NM_001077183.1:c.3491_3515del	NP_001070651.1:p.Trp1164SerfsTer?
NM_001114382.1:c.3623_3647del	NP_001107854.1:p.Trp1208SerfsTer?
XM_005255529.3:c.3494_3518del	XP_005255586.2:p.Trp1165SerfsTer?
XM_005255531.3:c.3494_3518del	XP_005255588.2:p.Trp1165SerfsTer?
XM_011522636.1:c.3623_3647del	XP_011520938.1:p.Trp1208SerfsTer?
XM_011522637.1:c.3620_3644del	XP_011520939.1:p.Trp1207SerfsTer?
XM_011522638.1:c.3512_3536del	XP_011520940.1:p.Trp1171SerfsTer?
XM_011522639.1:c.3494_3518del	XP_011520941.1:p.Trp1165SerfsTer?
XM_011522640.1:c.3491_3515del	XP_011520942.1:p.Trp1164SerfsTer?
XM_011522641.1:c.3383_3407del	XP_011520943.1:p.Trp1128SerfsTer?
NM_000548.4:c.3623_3647del	NP_000539.2:p.Trp1208SerfsTer?
NM_001077183.2:c.3491_3515del	NP_001070651.1:p.Trp1164SerfsTer?
NM_001114382.2:c.3623_3647del	NP_001107854.1:p.Trp1208SerfsTer?
NM_001318827.1:c.3383_3407del	NP_001305756.1:p.Trp1128SerfsTer?
NM_001318829.1:c.3347_3371del	NP_001305758.1:p.Trp1116SerfsTer?
NM_001318831.1:c.2891_2915del	NP_001305760.1:p.Trp964SerfsTer?
NM_001318832.1:c.3524_3548del	NP_001305761.1:p.Trp1175SerfsTer?
NM_001363528.1:c.3494_3518del	NP_001350457.1:p.Trp1165SerfsTer?
NM_021055.2:c.3494_3518del	NP_066399.2:p.Trp1165SerfsTer?
XM_005255531.4:c.3494_3518del	XP_005255588.2:p.Trp1165SerfsTer?
XM_011522636.2:c.3623_3647del	XP_011520938.1:p.Trp1208SerfsTer?
XM_011522637.2:c.3620_3644del	XP_011520939.1:p.Trp1207SerfsTer?
XM_011522638.2:c.3785_3809del	XP_011520940.2:p.Trp1262SerfsTer?
XM_011522639.2:c.3494_3518del	XP_011520941.1:p.Trp1165SerfsTer?
XM_011522640.2:c.3491_3515del	XP_011520942.1:p.Trp1164SerfsTer?
XM_017023615.1:c.3620_3644del	XP_016879104.1:p.Trp1207SerfsTer?
XM_017023616.1:c.3491_3515del	XP_016879105.1:p.Trp1164SerfsTer?
XM_017023617.1:c.3656_3680del	XP_016879106.1:p.Trp1219SerfsTer?
XM_017023618.1:c.2279_2303del	XP_016879107.1:p.Trp760SerfsTer?
XM_024450413.1:c.3491_3515del	XP_024306181.1:p.Trp1164SerfsTer?
NM_000548.5:c.3623_3647del MANE Select	NP_000539.2:p.Trp1208SerfsTer?
NM_001370404.1:c.3491_3515del	NP_001357333.1:p.Trp1164SerfsTer?
NM_001370405.1:c.3494_3518del	NP_001357334.1:p.Trp1165SerfsTer?
NM_001077183.3:c.3491_3515del	NP_001070651.1:p.Trp1164SerfsTer?
NM_001114382.3:c.3623_3647del	NP_001107854.1:p.Trp1208SerfsTer?
NM_001318827.2:c.3383_3407del	NP_001305756.1:p.Trp1128SerfsTer?
NM_001318829.2:c.3347_3371del	NP_001305758.1:p.Trp1116SerfsTer?
NM_001318831.2:c.2891_2915del	NP_001305760.1:p.Trp964SerfsTer?
NM_001318832.2:c.3524_3548del	NP_001305761.1:p.Trp1175SerfsTer?
NM_001363528.2:c.3494_3518del	NP_001350457.1:p.Trp1165SerfsTer?
NM_021055.3:c.3494_3518del	NP_066399.2:p.Trp1165SerfsTer?