Canonical Allele Identifier: CA2631124146
Gene: TSC2 HGNC NCBI

Linked Data

gnomAD v4: 16-2064194-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2064194T>C , CM000678.2:g.2064194T>C GRCh38
NC_000016.9:g.2114195T>C , CM000678.1:g.2114195T>C GRCh37
NC_000016.8:g.2054196T>C NCBI36
NG_005895.1:g.19889T>C , LRG_487:g.19889T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000568566.6:c.1362-78T>C ENSP00000455997.2:n.1362-78T>C
ENST00000642206.2:c.1489-78T>C ENSP00000495146.2:n.1489-78T>C
ENST00000642365.2:c.1444-78T>C ENSP00000495459.2:n.1444-78T>C
ENST00000644417.2:c.*881-78T>C ENSP00000493912.2:n.*881-78T>C
ENST00000646464.2:c.*1049-78T>C ENSP00000496610.2:n.*1049-78T>C
ENST00000219476.9:c.1444-78T>C MANE Select ENSP00000219476.3:n.1444-78T>C
ENST00000350773.9:c.1444-78T>C ENSP00000344383.4:n.1444-78T>C
ENST00000401874.7:c.1444-78T>C ENSP00000384468.2:n.1444-78T>C
ENST00000463601.2:n.1494T>C
ENST00000568454.6:c.1477-78T>C ENSP00000454487.1:n.1477-78T>C
ENST00000642365.1:c.101-78T>C
ENST00000642561.1:c.1444-78T>C ENSP00000495099.1:n.1444-78T>C
ENST00000642797.1:c.1444-78T>C ENSP00000493846.1:n.1444-78T>C
ENST00000642812.1:n.1489-78T>C
ENST00000642936.1:c.1444-78T>C ENSP00000494514.1:n.1444-78T>C
ENST00000643088.1:c.1444-78T>C ENSP00000494747.1:n.1444-78T>C
ENST00000643149.1:n.3454-78T>C
ENST00000643298.1:c.*946-78T>C ENSP00000494393.1:n.*946-78T>C
ENST00000643745.1:c.*376-78T>C ENSP00000495948.1:n.*376-78T>C
ENST00000643946.1:c.1444-78T>C ENSP00000495927.1:n.1444-78T>C
ENST00000644043.1:c.1444-78T>C ENSP00000496262.1:n.1444-78T>C
ENST00000644135.1:c.1444-78T>C ENSP00000495644.1:n.1444-78T>C
ENST00000644222.1:n.1531-78T>C
ENST00000644329.1:c.1444-78T>C ENSP00000496611.1:n.1444-78T>C
ENST00000644335.1:c.1444-78T>C ENSP00000496317.1:n.1444-78T>C
ENST00000644399.1:c.1437-78T>C
ENST00000644665.1:n.2618-78T>C
ENST00000644847.1:n.436-78T>C
ENST00000645591.1:n.2502-78T>C
ENST00000646388.1:c.1444-78T>C ENSP00000495921.1:n.1444-78T>C
ENST00000646634.1:n.457-78T>C
ENST00000647234.1:n.3202-78T>C
ENST00000647242.1:n.2080-78T>C
ENST00000219476.7:c.1444-78T>C ENSP00000219476.3:n.1444-78T>C
ENST00000350773.8:c.1444-78T>C ENSP00000344383.4:n.1444-78T>C
ENST00000382538.10:c.1297-78T>C ENSP00000371978.6:n.1297-78T>C
ENST00000401874.6:c.1444-78T>C ENSP00000384468.2:n.1444-78T>C
ENST00000439117.6:c.*743-78T>C ENSP00000406980.2:n.*743-78T>C
ENST00000439673.6:c.1333-78T>C ENSP00000399232.2:n.1333-78T>C
ENST00000490108.1:n.217-78T>C
ENST00000568238.1:n.124T>C
ENST00000568454.5:c.1477-78T>C ENSP00000454487.1:n.1477-78T>C
ENST00000568566.5:c.84-78T>C ENSP00000455997.1:n.84-78T>C
NM_000548.3:c.1444-78T>C , LRG_487t1:c.1444-78T>C NP_000539.2:n.1444-78T>C
NM_001077183.1:c.1444-78T>C NP_001070651.1:n.1444-78T>C
NM_001114382.1:c.1444-78T>C NP_001107854.1:n.1444-78T>C
XM_005255529.3:c.1444-78T>C XP_005255586.2:n.1444-78T>C
XM_005255531.3:c.1444-78T>C XP_005255588.2:n.1444-78T>C
XM_011522636.1:c.1444-78T>C XP_011520938.1:n.1444-78T>C
XM_011522637.1:c.1444-78T>C XP_011520939.1:n.1444-78T>C
XM_011522638.1:c.1333-78T>C XP_011520940.1:n.1333-78T>C
XM_011522639.1:c.1444-78T>C XP_011520941.1:n.1444-78T>C
XM_011522640.1:c.1444-78T>C XP_011520942.1:n.1444-78T>C
XM_011522641.1:c.1333-78T>C XP_011520943.1:n.1333-78T>C
NM_000548.4:c.1444-78T>C NP_000539.2:n.1444-78T>C
NM_001077183.2:c.1444-78T>C NP_001070651.1:n.1444-78T>C
NM_001114382.2:c.1444-78T>C NP_001107854.1:n.1444-78T>C
NM_001318827.1:c.1333-78T>C NP_001305756.1:n.1333-78T>C
NM_001318829.1:c.1297-78T>C NP_001305758.1:n.1297-78T>C
NM_001318831.1:c.844-78T>C NP_001305760.1:n.844-78T>C
NM_001318832.1:c.1477-78T>C NP_001305761.1:n.1477-78T>C
NM_001363528.1:c.1444-78T>C NP_001350457.1:n.1444-78T>C
NM_021055.2:c.1444-78T>C NP_066399.2:n.1444-78T>C
XM_005255531.4:c.1444-78T>C XP_005255588.2:n.1444-78T>C
XM_011522636.2:c.1444-78T>C XP_011520938.1:n.1444-78T>C
XM_011522637.2:c.1444-78T>C XP_011520939.1:n.1444-78T>C
XM_011522638.2:c.1606-78T>C XP_011520940.2:n.1606-78T>C
XM_011522639.2:c.1444-78T>C XP_011520941.1:n.1444-78T>C
XM_011522640.2:c.1444-78T>C XP_011520942.1:n.1444-78T>C
XM_017023615.1:c.1444-78T>C XP_016879104.1:n.1444-78T>C
XM_017023616.1:c.1444-78T>C XP_016879105.1:n.1444-78T>C
XM_017023617.1:c.1606-78T>C XP_016879106.1:n.1606-78T>C
XM_017023618.1:c.100-78T>C XP_016879107.1:n.100-78T>C
XM_024450413.1:c.1444-78T>C XP_024306181.1:n.1444-78T>C
NM_000548.5:c.1444-78T>C MANE Select NP_000539.2:n.1444-78T>C
NM_001370404.1:c.1444-78T>C NP_001357333.1:n.1444-78T>C
NM_001370405.1:c.1444-78T>C NP_001357334.1:n.1444-78T>C
NM_001077183.3:c.1444-78T>C NP_001070651.1:n.1444-78T>C
NM_001114382.3:c.1444-78T>C NP_001107854.1:n.1444-78T>C
NM_001318827.2:c.1333-78T>C NP_001305756.1:n.1333-78T>C
NM_001318829.2:c.1297-78T>C NP_001305758.1:n.1297-78T>C
NM_001318831.2:c.844-78T>C NP_001305760.1:n.844-78T>C
NM_001318832.2:c.1477-78T>C NP_001305761.1:n.1477-78T>C
NM_001363528.2:c.1444-78T>C NP_001350457.1:n.1444-78T>C
NM_021055.3:c.1444-78T>C NP_066399.2:n.1444-78T>C
Search 100 bp 5'
Search 100 bp 3'