Canonical Allele Identifier: CA018681
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49246
ClinVar RCV Id: RCV000042505 RCV000201154 RCV000727088 RCV002321535
dbSNP Id: rs137854076
MyVariant Identifiers: chr16:g.2129351_2129352del (hg19) chr16:g.2079350_2079351del (hg38)
PubMed: PMID:12111193 PMID:23891399
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2079350_2079351del , CM000678.2:g.2079350_2079351del GRCh38
NC_000016.9:g.2129351_2129352del , CM000678.1:g.2129351_2129352del GRCh37
NC_000016.8:g.2069352_2069353del NCBI36
NG_005895.1:g.35045_35046del , LRG_487:g.35045_35046del

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.*1624_*1625del ENSP00000455997.2:n.*1624_*1625del
ENST00000642206.2:c.3122_3123del ENSP00000495146.2:p.Val1041AspfsTer?
ENST00000642365.2:c.3203_3204del ENSP00000495459.2:p.Val1068AspfsTer?
ENST00000644417.2:c.*3655_*3656del ENSP00000493912.2:n.*3655_*3656del
ENST00000646464.2:c.*4128_*4129del ENSP00000496610.2:n.*4128_*4129del
ENST00000219476.9:c.3206_3207del MANE Select ENSP00000219476.3:p.Val1069AspfsTer?
ENST00000350773.9:c.3206_3207del ENSP00000344383.4:p.Val1069AspfsTer?
ENST00000401874.7:c.3074_3075del ENSP00000384468.2:p.Val1025AspfsTer?
ENST00000471143.6:c.434_435del ENSP00000458541.2:n.434_435del
ENST00000568454.6:c.3107_3108del ENSP00000454487.1:p.Val1036AspfsTer?
ENST00000642365.1:c.1860_1861del
ENST00000642561.1:c.3077_3078del ENSP00000495099.1:p.Val1026AspfsTer?
ENST00000642797.1:c.3077_3078del ENSP00000493846.1:p.Val1026AspfsTer?
ENST00000642936.1:c.3074_3075del ENSP00000494514.1:p.Val1025AspfsTer?
ENST00000643088.1:c.3074_3075del ENSP00000494747.1:p.Val1025AspfsTer?
ENST00000643946.1:c.3206_3207del ENSP00000495927.1:p.Val1069AspfsTer?
ENST00000644043.1:c.3077_3078del ENSP00000496262.1:p.Val1026AspfsTer?
ENST00000644329.1:c.3074_3075del ENSP00000496611.1:p.Val1025AspfsTer?
ENST00000644335.1:c.3077_3078del ENSP00000496317.1:p.Val1026AspfsTer?
ENST00000644399.1:c.3196_3197del
ENST00000644722.1:n.352_353del
ENST00000645024.1:n.1359_1360del
ENST00000646388.1:c.3206_3207del ENSP00000495921.1:p.Val1069AspfsTer?
ENST00000646634.1:n.2090_2091del
ENST00000647042.1:n.498_499del
ENST00000219476.7:c.3206_3207del ENSP00000219476.3:p.Val1069AspfsTer?
ENST00000350773.8:c.3206_3207del ENSP00000344383.4:p.Val1069AspfsTer?
ENST00000382538.10:c.2930_2931del ENSP00000371978.6:p.Val977AspfsTer?
ENST00000401874.6:c.3074_3075del ENSP00000384468.2:p.Val1025AspfsTer?
ENST00000439117.6:c.*2373_*2374del ENSP00000406980.2:n.*2373_*2374del
ENST00000439673.6:c.2966_2967del ENSP00000399232.2:p.Val989AspfsTer?
ENST00000471143.5:c.432_433del
ENST00000483020.5:c.446_447del ENSP00000460310.1:n.446_447del
ENST00000497886.5:n.1033_1034del
ENST00000561695.1:n.431_432del
ENST00000568366.5:n.563_564del
ENST00000568454.5:c.3107_3108del ENSP00000454487.1:p.Val1036AspfsTer?
NM_000548.3:c.3206_3207del , LRG_487t1:c.3206_3207del NP_000539.2:p.Val1069AspfsTer?
NM_001077183.1:c.3074_3075del NP_001070651.1:p.Val1025AspfsTer?
NM_001114382.1:c.3206_3207del NP_001107854.1:p.Val1069AspfsTer?
XM_005255529.3:c.3077_3078del XP_005255586.2:p.Val1026AspfsTer?
XM_005255531.3:c.3077_3078del XP_005255588.2:p.Val1026AspfsTer?
XM_011522636.1:c.3206_3207del XP_011520938.1:p.Val1069AspfsTer?
XM_011522637.1:c.3203_3204del XP_011520939.1:p.Val1068AspfsTer?
XM_011522638.1:c.3095_3096del XP_011520940.1:p.Val1032AspfsTer?
XM_011522639.1:c.3077_3078del XP_011520941.1:p.Val1026AspfsTer?
XM_011522640.1:c.3074_3075del XP_011520942.1:p.Val1025AspfsTer?
XM_011522641.1:c.2966_2967del XP_011520943.1:p.Val989AspfsTer?
NM_000548.4:c.3206_3207del NP_000539.2:p.Val1069AspfsTer?
NM_001077183.2:c.3074_3075del NP_001070651.1:p.Val1025AspfsTer?
NM_001114382.2:c.3206_3207del NP_001107854.1:p.Val1069AspfsTer?
NM_001318827.1:c.2966_2967del NP_001305756.1:p.Val989AspfsTer?
NM_001318829.1:c.2930_2931del NP_001305758.1:p.Val977AspfsTer?
NM_001318831.1:c.2474_2475del NP_001305760.1:p.Val825AspfsTer?
NM_001318832.1:c.3107_3108del NP_001305761.1:p.Val1036AspfsTer?
NM_001363528.1:c.3077_3078del NP_001350457.1:p.Val1026AspfsTer?
NM_021055.2:c.3077_3078del NP_066399.2:p.Val1026AspfsTer?
XM_005255531.4:c.3077_3078del XP_005255588.2:p.Val1026AspfsTer?
XM_011522636.2:c.3206_3207del XP_011520938.1:p.Val1069AspfsTer?
XM_011522637.2:c.3203_3204del XP_011520939.1:p.Val1068AspfsTer?
XM_011522638.2:c.3368_3369del XP_011520940.2:p.Val1123AspfsTer?
XM_011522639.2:c.3077_3078del XP_011520941.1:p.Val1026AspfsTer?
XM_011522640.2:c.3074_3075del XP_011520942.1:p.Val1025AspfsTer?
XM_017023615.1:c.3203_3204del XP_016879104.1:p.Val1068AspfsTer?
XM_017023616.1:c.3074_3075del XP_016879105.1:p.Val1025AspfsTer?
XM_017023617.1:c.3239_3240del XP_016879106.1:p.Val1080AspfsTer?
XM_017023618.1:c.1862_1863del XP_016879107.1:p.Val621AspfsTer?
XM_024450413.1:c.3074_3075del XP_024306181.1:p.Val1025AspfsTer?
NM_000548.5:c.3206_3207del MANE Select NP_000539.2:p.Val1069AspfsTer?
NM_001370404.1:c.3074_3075del NP_001357333.1:p.Val1025AspfsTer?
NM_001370405.1:c.3077_3078del NP_001357334.1:p.Val1026AspfsTer?
NM_001077183.3:c.3074_3075del NP_001070651.1:p.Val1025AspfsTer?
NM_001114382.3:c.3206_3207del NP_001107854.1:p.Val1069AspfsTer?
NM_001318827.2:c.2966_2967del NP_001305756.1:p.Val989AspfsTer?
NM_001318829.2:c.2930_2931del NP_001305758.1:p.Val977AspfsTer?
NM_001318831.2:c.2474_2475del NP_001305760.1:p.Val825AspfsTer?
NM_001318832.2:c.3107_3108del NP_001305761.1:p.Val1036AspfsTer?
NM_001363528.2:c.3077_3078del NP_001350457.1:p.Val1026AspfsTer?
NM_021055.3:c.3077_3078del NP_066399.2:p.Val1026AspfsTer?
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