Canonical Allele Identifier: CA276771986
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1744511
dbSNP Id: rs954041989
gnomAD v2: 16-2105418-A-G
gnomAD v3: 16-2055417-A-G
gnomAD v4: 16-2055417-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2055417A>G , CM000678.2:g.2055417A>G GRCh38
NC_000016.9:g.2105418A>G , CM000678.1:g.2105418A>G GRCh37
NC_000016.8:g.2045419A>G NCBI36
NG_005895.1:g.11112A>G , LRG_487:g.11112A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000568566.6:c.497A>G ENSP00000455997.2:p.Gln166Arg
ENST00000642206.2:c.542A>G ENSP00000495146.2:p.Gln181Arg
ENST00000642365.2:c.497A>G ENSP00000495459.2:p.Gln166Arg
ENST00000644417.2:c.482-2A>G ENSP00000493912.2:n.482-2A>G
ENST00000646464.2:c.226-563A>G ENSP00000496610.2:n.226-563A>G
ENST00000219476.9:c.497A>G MANE Select ENSP00000219476.3:p.Gln166Arg
ENST00000350773.9:c.497A>G ENSP00000344383.4:p.Gln166Arg
ENST00000401874.7:c.497A>G ENSP00000384468.2:p.Gln166Arg
ENST00000432909.3:c.271A>G
ENST00000461648.3:n.2411A>G
ENST00000568454.6:c.530A>G ENSP00000454487.1:p.Gln177Arg
ENST00000568692.2:n.1220A>G
ENST00000642561.1:c.497A>G ENSP00000495099.1:p.Gln166Arg
ENST00000642797.1:c.497A>G ENSP00000493846.1:p.Gln166Arg
ENST00000642812.1:n.554A>G
ENST00000642936.1:c.497A>G ENSP00000494514.1:p.Gln166Arg
ENST00000643088.1:c.497A>G ENSP00000494747.1:p.Gln166Arg
ENST00000643120.1:n.523-2A>G
ENST00000643149.1:n.1450A>G
ENST00000643298.1:c.497A>G ENSP00000494393.1:p.Gln166Arg
ENST00000643745.1:c.497A>G ENSP00000495948.1:p.Gln166Arg
ENST00000643946.1:c.497A>G ENSP00000495927.1:p.Gln166Arg
ENST00000644043.1:c.497A>G ENSP00000496262.1:p.Gln166Arg
ENST00000644135.1:c.497A>G ENSP00000495644.1:p.Gln166Arg
ENST00000644222.1:n.584A>G
ENST00000644329.1:c.497A>G ENSP00000496611.1:p.Gln166Arg
ENST00000644335.1:c.497A>G ENSP00000496317.1:p.Gln166Arg
ENST00000644399.1:c.490A>G
ENST00000644417.1:c.197-2A>G ENSP00000493912.1:n.197-2A>G
ENST00000644665.1:n.614A>G
ENST00000645591.1:n.1468A>G
ENST00000646388.1:c.497A>G ENSP00000495921.1:p.Gln166Arg
ENST00000646823.1:n.885A>G
ENST00000647234.1:n.1200-2A>G
ENST00000647242.1:n.1165A>G
ENST00000219476.7:c.497A>G ENSP00000219476.3:p.Gln166Arg
ENST00000350773.8:c.497A>G ENSP00000344383.4:p.Gln166Arg
ENST00000382538.10:c.350A>G ENSP00000371978.6:p.Gln117Arg
ENST00000401874.6:c.497A>G ENSP00000384468.2:p.Gln166Arg
ENST00000432909.2:c.271A>G
ENST00000439117.6:c.226-779A>G ENSP00000406980.2:n.226-779A>G
ENST00000439673.6:c.386A>G ENSP00000399232.2:p.Gln129Arg
ENST00000568454.5:c.530A>G ENSP00000454487.1:p.Gln177Arg
ENST00000568692.1:n.161A>G
NM_000548.3:c.497A>G , LRG_487t1:c.497A>G NP_000539.2:p.Gln166Arg
NM_001077183.1:c.497A>G NP_001070651.1:p.Gln166Arg
NM_001114382.1:c.497A>G NP_001107854.1:p.Gln166Arg
XM_005255529.3:c.497A>G XP_005255586.2:p.Gln166Arg
XM_005255531.3:c.497A>G XP_005255588.2:p.Gln166Arg
XM_011522636.1:c.497A>G XP_011520938.1:p.Gln166Arg
XM_011522637.1:c.497A>G XP_011520939.1:p.Gln166Arg
XM_011522638.1:c.386A>G XP_011520940.1:p.Gln129Arg
XM_011522639.1:c.497A>G XP_011520941.1:p.Gln166Arg
XM_011522640.1:c.497A>G XP_011520942.1:p.Gln166Arg
XM_011522641.1:c.386A>G XP_011520943.1:p.Gln129Arg
NM_000548.4:c.497A>G NP_000539.2:p.Gln166Arg
NM_001077183.2:c.497A>G NP_001070651.1:p.Gln166Arg
NM_001114382.2:c.497A>G NP_001107854.1:p.Gln166Arg
NM_001318827.1:c.386A>G NP_001305756.1:p.Gln129Arg
NM_001318829.1:c.350A>G NP_001305758.1:p.Gln117Arg
NM_001318831.1:c.-1-779A>G NP_001305760.1:n.-1-779A>G
NM_001318832.1:c.530A>G NP_001305761.1:p.Gln177Arg
NM_001363528.1:c.497A>G NP_001350457.1:p.Gln166Arg
NM_021055.2:c.497A>G NP_066399.2:p.Gln166Arg
XM_005255531.4:c.497A>G XP_005255588.2:p.Gln166Arg
XM_011522636.2:c.497A>G XP_011520938.1:p.Gln166Arg
XM_011522637.2:c.497A>G XP_011520939.1:p.Gln166Arg
XM_011522638.2:c.659A>G XP_011520940.2:p.Gln220Arg
XM_011522639.2:c.497A>G XP_011520941.1:p.Gln166Arg
XM_011522640.2:c.497A>G XP_011520942.1:p.Gln166Arg
XM_017023615.1:c.497A>G XP_016879104.1:p.Gln166Arg
XM_017023616.1:c.497A>G XP_016879105.1:p.Gln166Arg
XM_017023617.1:c.659A>G XP_016879106.1:p.Gln220Arg
XM_017023618.1:c.-935A>G XP_016879107.1:n.-935A>G
XM_024450413.1:c.497A>G XP_024306181.1:p.Gln166Arg
NM_000548.5:c.497A>G MANE Select NP_000539.2:p.Gln166Arg
NM_001370404.1:c.497A>G NP_001357333.1:p.Gln166Arg
NM_001370405.1:c.497A>G NP_001357334.1:p.Gln166Arg
NM_001077183.3:c.497A>G NP_001070651.1:p.Gln166Arg
NM_001114382.3:c.497A>G NP_001107854.1:p.Gln166Arg
NM_001318827.2:c.386A>G NP_001305756.1:p.Gln129Arg
NM_001318829.2:c.350A>G NP_001305758.1:p.Gln117Arg
NM_001318831.2:c.-1-779A>G NP_001305760.1:n.-1-779A>G
NM_001318832.2:c.530A>G NP_001305761.1:p.Gln177Arg
NM_001363528.2:c.497A>G NP_001350457.1:p.Gln166Arg
NM_021055.3:c.497A>G NP_066399.2:p.Gln166Arg