Linked Data
ClinVar Variation Id:
1331377
ClinVar RCV Id:
RCV001806721
dbSNP Id:
rs139032110
ExAC:
3:12574191 C / T
gnomAD v2:
3-12574191-C-T
gnomAD v3:
3-12532692-C-T
gnomAD v4:
3-12532692-C-T
COSMIC:
COSM1037696
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12532692C>T , CM000665.2:g.12532692C>T | GRCh38 |
| NC_000003.11:g.12574191C>T , CM000665.1:g.12574191C>T | GRCh37 |
| NC_000003.10:g.12549191C>T | NCBI36 |
| NG_011521.1:g.53261C>T | |
| NG_011521.2:g.53261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284995.11:c.1369C>T (TSEN2) MANE Select | ENSP00000284995.6:p.Arg457Ter | |
| ENST00000412698.3:c.1260+1033C>T (TSEN2) | ENSP00000408528.3:n.1260+1033C>T | |
| ENST00000415684.6:c.1291C>T (TSEN2) | ENSP00000416510.1:p.Arg431Ter | |
| ENST00000444864.6:c.1260+1033C>T (TSEN2) | ENSP00000407974.2:n.1260+1033C>T | |
| ENST00000446004.6:c.1338+1033C>T (TSEN2) | ENSP00000406238.2:n.1338+1033C>T | |
| ENST00000455118.6:c.*210C>T (TSEN2) | ENSP00000408744.2:n.*210C>T | |
| ENST00000475595.2:n.4052C>T (TSEN2) | ||
| ENST00000679367.1:c.*988C>T (TSEN2) | ENSP00000506510.1:n.*988C>T | |
| ENST00000679420.1:n.1542C>T (TSEN2) | ||
| ENST00000679424.1:c.*1212C>T (TSEN2) | ENSP00000505917.1:n.*1212C>T | |
| ENST00000679425.1:c.1369C>T (TSEN2) | ENSP00000505890.1:p.Arg457Ter | |
| ENST00000679492.1:c.1338+1033C>T (TSEN2) | ENSP00000505331.1:n.1338+1033C>T | |
| ENST00000679555.1:c.*1092C>T (TSEN2) | ENSP00000505538.1:n.*1092C>T | |
| ENST00000679670.1:c.1291C>T (TSEN2) | ENSP00000506080.1:p.Arg431Ter | |
| ENST00000679690.1:c.*368C>T (TSEN2) | ENSP00000506383.1:n.*368C>T | |
| ENST00000679693.1:c.*175+1033C>T (TSEN2) | ENSP00000505108.1:n.*175+1033C>T | |
| ENST00000679699.1:c.1369C>T (TSEN2) | ENSP00000505274.1:p.Arg457Ter | |
| ENST00000679756.1:c.1318C>T (TSEN2) | ENSP00000506391.1:p.Arg440Ter | |
| ENST00000679785.1:c.*210C>T (TSEN2) | ENSP00000506473.1:n.*210C>T | |
| ENST00000679835.1:c.*558C>T (TSEN2) | ENSP00000505616.1:n.*558C>T | |
| ENST00000679876.1:c.1209+1033C>T (TSEN2) | ENSP00000504930.1:n.1209+1033C>T | |
| ENST00000679995.1:c.*210C>T (TSEN2) | ENSP00000505221.1:n.*210C>T | |
| ENST00000680126.1:c.*1208C>T (TSEN2) | ENSP00000505345.1:n.*1208C>T | |
| ENST00000680264.1:c.*527+1033C>T (TSEN2) | ENSP00000505273.1:n.*527+1033C>T | |
| ENST00000680275.1:c.1426C>T (TSEN2) | ENSP00000505417.1:p.Arg476Ter | |
| ENST00000680354.1:c.1348C>T (TSEN2) | ENSP00000505106.1:p.Arg450Ter | |
| ENST00000680376.1:c.*558C>T (TSEN2) | ENSP00000506369.1:n.*558C>T | |
| ENST00000680421.1:c.1240C>T (TSEN2) | ENSP00000505530.1:p.Arg414Ter | |
| ENST00000680449.1:c.*511C>T (TSEN2) | ENSP00000505709.1:n.*511C>T | |
| ENST00000680458.1:c.*184C>T (TSEN2) | ENSP00000505979.1:n.*184C>T | |
| ENST00000680555.1:c.*210C>T (TSEN2) | ENSP00000505160.1:n.*210C>T | |
| ENST00000680598.1:c.1318C>T (TSEN2) | ENSP00000506297.1:p.Arg440Ter | |
| ENST00000680765.1:c.*210C>T (TSEN2) | ENSP00000505351.1:n.*210C>T | |
| ENST00000680817.1:c.1240C>T (TSEN2) | ENSP00000506221.1:p.Arg414Ter | |
| ENST00000680857.1:c.1338+1033C>T (TSEN2) | ENSP00000506578.1:n.1338+1033C>T | |
| ENST00000680873.1:c.*521C>T (TSEN2) | ENSP00000505233.1:n.*521C>T | |
| ENST00000680923.1:c.*558C>T (TSEN2) | ENSP00000505344.1:n.*558C>T | |
| ENST00000680943.1:c.1318C>T (TSEN2) | ENSP00000505442.1:p.Arg440Ter | |
| ENST00000680986.1:c.1369C>T (TSEN2) | ENSP00000505799.1:p.Arg457Ter | |
| ENST00000681042.1:c.1100-6469C>T (TSEN2) | ENSP00000505622.1:n.1100-6469C>T | |
| ENST00000681073.1:c.*210C>T (TSEN2) | ENSP00000506576.1:n.*210C>T | |
| ENST00000681140.1:c.1369C>T (TSEN2) | ENSP00000505099.1:p.Arg457Ter | |
| ENST00000681227.1:c.*241C>T (TSEN2) | ENSP00000505240.1:n.*241C>T | |
| ENST00000681268.1:c.*1513C>T (TSEN2) | ENSP00000505385.1:n.*1513C>T | |
| ENST00000681343.1:c.*988C>T (TSEN2) | ENSP00000506265.1:n.*988C>T | |
| ENST00000681433.1:c.*210C>T (TSEN2) | ENSP00000505729.1:n.*210C>T | |
| ENST00000681471.1:c.1291C>T (TSEN2) | ENSP00000505105.1:p.Arg431Ter | |
| ENST00000681482.1:c.1369C>T (TSEN2) | ENSP00000505436.1:p.Arg457Ter | |
| ENST00000681676.1:c.1291C>T (TSEN2) | ENSP00000506163.1:p.Arg431Ter | |
| ENST00000681713.1:c.*988C>T (TSEN2) | ENSP00000506046.1:n.*988C>T | |
| ENST00000284995.10:c.1369C>T (TSEN2) | ENSP00000284995.6:p.Arg457Ter | |
| ENST00000402228.7:c.1369C>T (TSEN2) | ENSP00000385976.3:p.Arg457Ter | |
| ENST00000412698.2:c.93+1033C>T (TSEN2) | ENSP00000408528.2:n.93+1033C>T | |
| ENST00000415684.5:c.1291C>T (TSEN2) | ENSP00000416510.1:p.Arg431Ter | |
| ENST00000454502.6:c.1192C>T (TSEN2) | ENSP00000392029.2:p.Arg398Ter | |
| ENST00000455118.5:c.216C>T (TSEN2) | ||
| ENST00000473755.5:n.3374C>T (TSEN2) | ||
| ENST00000475595.1:n.215C>T (TSEN2) | ||
| ENST00000567514.1:n.715+6815G>A (MKRN2OS) | ||
| NM_001145392.1:c.1369C>T (TSEN2) | NP_001138864.1:p.Arg457Ter | |
| NM_001145393.1:c.1291C>T (TSEN2) | NP_001138865.1:p.Arg431Ter | |
| NM_001145394.1:c.1192C>T (TSEN2) | NP_001138866.1:p.Arg398Ter | |
| NM_025265.3:c.1369C>T (TSEN2) | NP_079541.1:p.Arg457Ter | |
| XM_005265495.1:c.1369C>T (TSEN2) | XP_005265552.1:p.Arg457Ter | |
| XM_005265497.1:c.1291C>T (TSEN2) | XP_005265554.1:p.Arg431Ter | |
| XM_005265498.1:c.1240C>T (TSEN2) | XP_005265555.1:p.Arg414Ter | |
| XM_011534138.1:c.1102C>T (TSEN2) | XP_011532440.1:p.Arg368Ter | |
| XM_011534139.1:c.1096C>T (TSEN2) | XP_011532441.1:p.Arg366Ter | |
| XR_245158.1:n.1472C>T (TSEN2) | ||
| XR_245159.3:n.1472C>T (TSEN2) | ||
| XR_427295.2:n.3374C>T (TSEN2) | ||
| XR_427296.1:n.1282C>T (TSEN2) | ||
| NM_001145393.2:c.1291C>T (TSEN2) | NP_001138865.1:p.Arg431Ter | |
| NM_001321277.1:c.1369C>T (TSEN2) | NP_001308206.1:p.Arg457Ter | |
| NM_001321278.1:c.1338+1033C>T (TSEN2) | NP_001308207.1:n.1338+1033C>T | |
| NM_001321279.1:c.1291C>T (TSEN2) | NP_001308208.1:p.Arg431Ter | |
| NR_135607.1:n.1472C>T (TSEN2) | ||
| XM_011534139.3:c.1096C>T (TSEN2) | XP_011532441.1:p.Arg366Ter | |
| XM_017007292.1:c.1426C>T (TSEN2) | XP_016862781.1:p.Arg476Ter | |
| XM_017007293.1:c.1426C>T (TSEN2) | XP_016862782.1:p.Arg476Ter | |
| XM_017007294.1:c.1426C>T (TSEN2) | XP_016862783.1:p.Arg476Ter | |
| XM_017007295.2:c.1426C>T (TSEN2) | XP_016862784.1:p.Arg476Ter | |
| XM_017007296.2:c.1369C>T (TSEN2) | XP_016862785.1:p.Arg457Ter | |
| XM_017007297.1:c.1348C>T (TSEN2) | XP_016862786.1:p.Arg450Ter | |
| XM_024453785.1:c.1291C>T (TSEN2) | XP_024309553.1:p.Arg431Ter | |
| XR_001740287.1:n.1813C>T (TSEN2) | ||
| XR_001740288.2:n.1813C>T (TSEN2) | ||
| XR_001740289.2:n.1756C>T (TSEN2) | ||
| XR_001740290.2:n.1370C>T (TSEN2) | ||
| XR_001740291.1:n.1678C>T (TSEN2) | ||
| XR_001740292.1:n.1776C>T (TSEN2) | ||
| XR_001740293.1:n.1776C>T (TSEN2) | ||
| XR_001740294.2:n.1411C>T (TSEN2) | ||
| XR_001740295.2:n.1333C>T (TSEN2) | ||
| XR_001740296.1:n.1623C>T (TSEN2) | ||
| XR_001740297.1:n.1941C>T (TSEN2) | ||
| XR_001740298.2:n.1258C>T (TSEN2) | ||
| XR_001740300.2:n.1576C>T (TSEN2) | ||
| XR_001740301.2:n.1576C>T (TSEN2) | ||
| XR_001740302.2:n.1539C>T (TSEN2) | ||
| XR_001740303.2:n.1386C>T (TSEN2) | ||
| XR_001740304.1:n.1694C>T (TSEN2) | ||
| XR_002959592.1:n.1547C>T (TSEN2) | ||
| XR_002959593.1:n.1504C>T (TSEN2) | ||
| XR_002959594.1:n.1544C>T (TSEN2) | ||
| XR_002959595.1:n.1884C>T (TSEN2) | ||
| XR_427296.2:n.1258C>T (TSEN2) | ||
| NM_001321278.2:c.1338+1033C>T (TSEN2) | NP_001308207.1:n.1338+1033C>T | |
| NM_025265.4:c.1369C>T (TSEN2) MANE Select | NP_079541.1:p.Arg457Ter | |
| NR_135607.2:n.1424C>T (TSEN2) | ||
| NM_001145392.2:c.1369C>T (TSEN2) | NP_001138864.1:p.Arg457Ter | |
| NM_001145393.3:c.1291C>T (TSEN2) | NP_001138865.1:p.Arg431Ter | |
| NM_001145394.2:c.1192C>T (TSEN2) | NP_001138866.1:p.Arg398Ter | |
| NM_001321277.2:c.1369C>T (TSEN2) | NP_001308206.1:p.Arg457Ter | |
| NM_001321279.2:c.1291C>T (TSEN2) | NP_001308208.1:p.Arg431Ter |