WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
160108
dbSNP Id:
rs75288720
ExAC:
3:12574211 C / T
gnomAD v2:
3-12574211-C-T
gnomAD v3:
3-12532712-C-T
gnomAD v4:
3-12532712-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12532712C>T , CM000665.2:g.12532712C>T | GRCh38 |
| NC_000003.11:g.12574211C>T , CM000665.1:g.12574211C>T | GRCh37 |
| NC_000003.10:g.12549211C>T | NCBI36 |
| NG_011521.1:g.53281C>T | |
| NG_011521.2:g.53281C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284995.11:c.1389C>T (TSEN2) MANE Select | ENSP00000284995.6:p.Asp463= | |
| ENST00000412698.3:c.1260+1053C>T (TSEN2) | ENSP00000408528.3:n.1260+1053C>T | |
| ENST00000415684.6:c.1311C>T (TSEN2) | ENSP00000416510.1:p.Asp437= | |
| ENST00000444864.6:c.1260+1053C>T (TSEN2) | ENSP00000407974.2:n.1260+1053C>T | |
| ENST00000446004.6:c.1338+1053C>T (TSEN2) | ENSP00000406238.2:n.1338+1053C>T | |
| ENST00000455118.6:c.*230C>T (TSEN2) | ENSP00000408744.2:n.*230C>T | |
| ENST00000475595.2:n.4072C>T (TSEN2) | ||
| ENST00000679367.1:c.*1008C>T (TSEN2) | ENSP00000506510.1:n.*1008C>T | |
| ENST00000679420.1:n.1562C>T (TSEN2) | ||
| ENST00000679424.1:c.*1232C>T (TSEN2) | ENSP00000505917.1:n.*1232C>T | |
| ENST00000679425.1:c.1389C>T (TSEN2) | ENSP00000505890.1:p.Asp463= | |
| ENST00000679492.1:c.1338+1053C>T (TSEN2) | ENSP00000505331.1:n.1338+1053C>T | |
| ENST00000679555.1:c.*1112C>T (TSEN2) | ENSP00000505538.1:n.*1112C>T | |
| ENST00000679670.1:c.1311C>T (TSEN2) | ENSP00000506080.1:p.Asp437= | |
| ENST00000679690.1:c.*388C>T (TSEN2) | ENSP00000506383.1:n.*388C>T | |
| ENST00000679693.1:c.*175+1053C>T (TSEN2) | ENSP00000505108.1:n.*175+1053C>T | |
| ENST00000679699.1:c.1389C>T (TSEN2) | ENSP00000505274.1:p.Asp463= | |
| ENST00000679756.1:c.1338C>T (TSEN2) | ENSP00000506391.1:p.Asp446= | |
| ENST00000679785.1:c.*230C>T (TSEN2) | ENSP00000506473.1:n.*230C>T | |
| ENST00000679835.1:c.*578C>T (TSEN2) | ENSP00000505616.1:n.*578C>T | |
| ENST00000679876.1:c.1209+1053C>T (TSEN2) | ENSP00000504930.1:n.1209+1053C>T | |
| ENST00000679995.1:c.*230C>T (TSEN2) | ENSP00000505221.1:n.*230C>T | |
| ENST00000680126.1:c.*1228C>T (TSEN2) | ENSP00000505345.1:n.*1228C>T | |
| ENST00000680264.1:c.*527+1053C>T (TSEN2) | ENSP00000505273.1:n.*527+1053C>T | |
| ENST00000680275.1:c.1446C>T (TSEN2) | ENSP00000505417.1:p.Asp482= | |
| ENST00000680354.1:c.1368C>T (TSEN2) | ENSP00000505106.1:p.Asp456= | |
| ENST00000680376.1:c.*578C>T (TSEN2) | ENSP00000506369.1:n.*578C>T | |
| ENST00000680421.1:c.1260C>T (TSEN2) | ENSP00000505530.1:p.Asp420= | |
| ENST00000680449.1:c.*531C>T (TSEN2) | ENSP00000505709.1:n.*531C>T | |
| ENST00000680458.1:c.*204C>T (TSEN2) | ENSP00000505979.1:n.*204C>T | |
| ENST00000680555.1:c.*230C>T (TSEN2) | ENSP00000505160.1:n.*230C>T | |
| ENST00000680598.1:c.1338C>T (TSEN2) | ENSP00000506297.1:p.Asp446= | |
| ENST00000680765.1:c.*230C>T (TSEN2) | ENSP00000505351.1:n.*230C>T | |
| ENST00000680817.1:c.1260C>T (TSEN2) | ENSP00000506221.1:p.Asp420= | |
| ENST00000680857.1:c.1338+1053C>T (TSEN2) | ENSP00000506578.1:n.1338+1053C>T | |
| ENST00000680873.1:c.*541C>T (TSEN2) | ENSP00000505233.1:n.*541C>T | |
| ENST00000680923.1:c.*578C>T (TSEN2) | ENSP00000505344.1:n.*578C>T | |
| ENST00000680943.1:c.1338C>T (TSEN2) | ENSP00000505442.1:p.Asp446= | |
| ENST00000680986.1:c.1389C>T (TSEN2) | ENSP00000505799.1:p.Asp463= | |
| ENST00000681042.1:c.1100-6449C>T (TSEN2) | ENSP00000505622.1:n.1100-6449C>T | |
| ENST00000681073.1:c.*230C>T (TSEN2) | ENSP00000506576.1:n.*230C>T | |
| ENST00000681140.1:c.1389C>T (TSEN2) | ENSP00000505099.1:p.Asp463= | |
| ENST00000681227.1:c.*261C>T (TSEN2) | ENSP00000505240.1:n.*261C>T | |
| ENST00000681268.1:c.*1533C>T (TSEN2) | ENSP00000505385.1:n.*1533C>T | |
| ENST00000681343.1:c.*1008C>T (TSEN2) | ENSP00000506265.1:n.*1008C>T | |
| ENST00000681433.1:c.*230C>T (TSEN2) | ENSP00000505729.1:n.*230C>T | |
| ENST00000681471.1:c.1311C>T (TSEN2) | ENSP00000505105.1:p.Asp437= | |
| ENST00000681482.1:c.1389C>T (TSEN2) | ENSP00000505436.1:p.Asp463= | |
| ENST00000681676.1:c.1311C>T (TSEN2) | ENSP00000506163.1:p.Asp437= | |
| ENST00000681713.1:c.*1008C>T (TSEN2) | ENSP00000506046.1:n.*1008C>T | |
| ENST00000284995.10:c.1389C>T (TSEN2) | ENSP00000284995.6:p.Asp463= | |
| ENST00000402228.7:c.1389C>T (TSEN2) | ENSP00000385976.3:p.Asp463= | |
| ENST00000412698.2:c.93+1053C>T (TSEN2) | ENSP00000408528.2:n.93+1053C>T | |
| ENST00000415684.5:c.1311C>T (TSEN2) | ENSP00000416510.1:p.Asp437= | |
| ENST00000454502.6:c.1212C>T (TSEN2) | ENSP00000392029.2:p.Asp404= | |
| ENST00000455118.5:c.236C>T (TSEN2) | ||
| ENST00000473755.5:n.3394C>T (TSEN2) | ||
| ENST00000475595.1:n.235C>T (TSEN2) | ||
| ENST00000567514.1:n.715+6795G>A (MKRN2OS) | ||
| NM_001145392.1:c.1389C>T (TSEN2) | NP_001138864.1:p.Asp463= | |
| NM_001145393.1:c.1311C>T (TSEN2) | NP_001138865.1:p.Asp437= | |
| NM_001145394.1:c.1212C>T (TSEN2) | NP_001138866.1:p.Asp404= | |
| NM_025265.3:c.1389C>T (TSEN2) | NP_079541.1:p.Asp463= | |
| XM_005265495.1:c.1389C>T (TSEN2) | XP_005265552.1:p.Asp463= | |
| XM_005265497.1:c.1311C>T (TSEN2) | XP_005265554.1:p.Asp437= | |
| XM_005265498.1:c.1260C>T (TSEN2) | XP_005265555.1:p.Asp420= | |
| XM_011534138.1:c.1122C>T (TSEN2) | XP_011532440.1:p.Asp374= | |
| XM_011534139.1:c.1116C>T (TSEN2) | XP_011532441.1:p.Asp372= | |
| XR_245158.1:n.1492C>T (TSEN2) | ||
| XR_245159.3:n.1492C>T (TSEN2) | ||
| XR_427295.2:n.3394C>T (TSEN2) | ||
| XR_427296.1:n.1302C>T (TSEN2) | ||
| NM_001145393.2:c.1311C>T (TSEN2) | NP_001138865.1:p.Asp437= | |
| NM_001321277.1:c.1389C>T (TSEN2) | NP_001308206.1:p.Asp463= | |
| NM_001321278.1:c.1338+1053C>T (TSEN2) | NP_001308207.1:n.1338+1053C>T | |
| NM_001321279.1:c.1311C>T (TSEN2) | NP_001308208.1:p.Asp437= | |
| NR_135607.1:n.1492C>T (TSEN2) | ||
| XM_011534139.3:c.1116C>T (TSEN2) | XP_011532441.1:p.Asp372= | |
| XM_017007292.1:c.1446C>T (TSEN2) | XP_016862781.1:p.Asp482= | |
| XM_017007293.1:c.1446C>T (TSEN2) | XP_016862782.1:p.Asp482= | |
| XM_017007294.1:c.1446C>T (TSEN2) | XP_016862783.1:p.Asp482= | |
| XM_017007295.2:c.1446C>T (TSEN2) | XP_016862784.1:p.Asp482= | |
| XM_017007296.2:c.1389C>T (TSEN2) | XP_016862785.1:p.Asp463= | |
| XM_017007297.1:c.1368C>T (TSEN2) | XP_016862786.1:p.Asp456= | |
| XM_024453785.1:c.1311C>T (TSEN2) | XP_024309553.1:p.Asp437= | |
| XR_001740287.1:n.1833C>T (TSEN2) | ||
| XR_001740288.2:n.1833C>T (TSEN2) | ||
| XR_001740289.2:n.1776C>T (TSEN2) | ||
| XR_001740290.2:n.1390C>T (TSEN2) | ||
| XR_001740291.1:n.1698C>T (TSEN2) | ||
| XR_001740292.1:n.1796C>T (TSEN2) | ||
| XR_001740293.1:n.1796C>T (TSEN2) | ||
| XR_001740294.2:n.1431C>T (TSEN2) | ||
| XR_001740295.2:n.1353C>T (TSEN2) | ||
| XR_001740296.1:n.1643C>T (TSEN2) | ||
| XR_001740297.1:n.1961C>T (TSEN2) | ||
| XR_001740298.2:n.1278C>T (TSEN2) | ||
| XR_001740300.2:n.1596C>T (TSEN2) | ||
| XR_001740301.2:n.1596C>T (TSEN2) | ||
| XR_001740302.2:n.1559C>T (TSEN2) | ||
| XR_001740303.2:n.1406C>T (TSEN2) | ||
| XR_001740304.1:n.1714C>T (TSEN2) | ||
| XR_002959592.1:n.1567C>T (TSEN2) | ||
| XR_002959593.1:n.1524C>T (TSEN2) | ||
| XR_002959594.1:n.1564C>T (TSEN2) | ||
| XR_002959595.1:n.1904C>T (TSEN2) | ||
| XR_427296.2:n.1278C>T (TSEN2) | ||
| NM_001321278.2:c.1338+1053C>T (TSEN2) | NP_001308207.1:n.1338+1053C>T | |
| NM_025265.4:c.1389C>T (TSEN2) MANE Select | NP_079541.1:p.Asp463= | |
| NR_135607.2:n.1444C>T (TSEN2) | ||
| NM_001145392.2:c.1389C>T (TSEN2) | NP_001138864.1:p.Asp463= | |
| NM_001145393.3:c.1311C>T (TSEN2) | NP_001138865.1:p.Asp437= | |
| NM_001145394.2:c.1212C>T (TSEN2) | NP_001138866.1:p.Asp404= | |
| NM_001321277.2:c.1389C>T (TSEN2) | NP_001308206.1:p.Asp463= | |
| NM_001321279.2:c.1311C>T (TSEN2) | NP_001308208.1:p.Asp437= |