SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
gnomAD v4:
3-12532705-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12532705A>G , CM000665.2:g.12532705A>G | GRCh38 |
| NC_000003.11:g.12574204A>G , CM000665.1:g.12574204A>G | GRCh37 |
| NC_000003.10:g.12549204A>G | NCBI36 |
| NG_011521.1:g.53274A>G | |
| NG_011521.2:g.53274A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284995.11:c.1382A>G (TSEN2) MANE Select | ENSP00000284995.6:p.Asp461Gly | |
| ENST00000412698.3:c.1260+1046A>G (TSEN2) | ENSP00000408528.3:n.1260+1046A>G | |
| ENST00000415684.6:c.1304A>G (TSEN2) | ENSP00000416510.1:p.Asp435Gly | |
| ENST00000444864.6:c.1260+1046A>G (TSEN2) | ENSP00000407974.2:n.1260+1046A>G | |
| ENST00000446004.6:c.1338+1046A>G (TSEN2) | ENSP00000406238.2:n.1338+1046A>G | |
| ENST00000455118.6:c.*223A>G (TSEN2) | ENSP00000408744.2:n.*223A>G | |
| ENST00000475595.2:n.4065A>G (TSEN2) | ||
| ENST00000679367.1:c.*1001A>G (TSEN2) | ENSP00000506510.1:n.*1001A>G | |
| ENST00000679420.1:n.1555A>G (TSEN2) | ||
| ENST00000679424.1:c.*1225A>G (TSEN2) | ENSP00000505917.1:n.*1225A>G | |
| ENST00000679425.1:c.1382A>G (TSEN2) | ENSP00000505890.1:p.Asp461Gly | |
| ENST00000679492.1:c.1338+1046A>G (TSEN2) | ENSP00000505331.1:n.1338+1046A>G | |
| ENST00000679555.1:c.*1105A>G (TSEN2) | ENSP00000505538.1:n.*1105A>G | |
| ENST00000679670.1:c.1304A>G (TSEN2) | ENSP00000506080.1:p.Asp435Gly | |
| ENST00000679690.1:c.*381A>G (TSEN2) | ENSP00000506383.1:n.*381A>G | |
| ENST00000679693.1:c.*175+1046A>G (TSEN2) | ENSP00000505108.1:n.*175+1046A>G | |
| ENST00000679699.1:c.1382A>G (TSEN2) | ENSP00000505274.1:p.Asp461Gly | |
| ENST00000679756.1:c.1331A>G (TSEN2) | ENSP00000506391.1:p.Asp444Gly | |
| ENST00000679785.1:c.*223A>G (TSEN2) | ENSP00000506473.1:n.*223A>G | |
| ENST00000679835.1:c.*571A>G (TSEN2) | ENSP00000505616.1:n.*571A>G | |
| ENST00000679876.1:c.1209+1046A>G (TSEN2) | ENSP00000504930.1:n.1209+1046A>G | |
| ENST00000679995.1:c.*223A>G (TSEN2) | ENSP00000505221.1:n.*223A>G | |
| ENST00000680126.1:c.*1221A>G (TSEN2) | ENSP00000505345.1:n.*1221A>G | |
| ENST00000680264.1:c.*527+1046A>G (TSEN2) | ENSP00000505273.1:n.*527+1046A>G | |
| ENST00000680275.1:c.1439A>G (TSEN2) | ENSP00000505417.1:p.Asp480Gly | |
| ENST00000680354.1:c.1361A>G (TSEN2) | ENSP00000505106.1:p.Asp454Gly | |
| ENST00000680376.1:c.*571A>G (TSEN2) | ENSP00000506369.1:n.*571A>G | |
| ENST00000680421.1:c.1253A>G (TSEN2) | ENSP00000505530.1:p.Asp418Gly | |
| ENST00000680449.1:c.*524A>G (TSEN2) | ENSP00000505709.1:n.*524A>G | |
| ENST00000680458.1:c.*197A>G (TSEN2) | ENSP00000505979.1:n.*197A>G | |
| ENST00000680555.1:c.*223A>G (TSEN2) | ENSP00000505160.1:n.*223A>G | |
| ENST00000680598.1:c.1331A>G (TSEN2) | ENSP00000506297.1:p.Asp444Gly | |
| ENST00000680765.1:c.*223A>G (TSEN2) | ENSP00000505351.1:n.*223A>G | |
| ENST00000680817.1:c.1253A>G (TSEN2) | ENSP00000506221.1:p.Asp418Gly | |
| ENST00000680857.1:c.1338+1046A>G (TSEN2) | ENSP00000506578.1:n.1338+1046A>G | |
| ENST00000680873.1:c.*534A>G (TSEN2) | ENSP00000505233.1:n.*534A>G | |
| ENST00000680923.1:c.*571A>G (TSEN2) | ENSP00000505344.1:n.*571A>G | |
| ENST00000680943.1:c.1331A>G (TSEN2) | ENSP00000505442.1:p.Asp444Gly | |
| ENST00000680986.1:c.1382A>G (TSEN2) | ENSP00000505799.1:p.Asp461Gly | |
| ENST00000681042.1:c.1100-6456A>G (TSEN2) | ENSP00000505622.1:n.1100-6456A>G | |
| ENST00000681073.1:c.*223A>G (TSEN2) | ENSP00000506576.1:n.*223A>G | |
| ENST00000681140.1:c.1382A>G (TSEN2) | ENSP00000505099.1:p.Asp461Gly | |
| ENST00000681227.1:c.*254A>G (TSEN2) | ENSP00000505240.1:n.*254A>G | |
| ENST00000681268.1:c.*1526A>G (TSEN2) | ENSP00000505385.1:n.*1526A>G | |
| ENST00000681343.1:c.*1001A>G (TSEN2) | ENSP00000506265.1:n.*1001A>G | |
| ENST00000681433.1:c.*223A>G (TSEN2) | ENSP00000505729.1:n.*223A>G | |
| ENST00000681471.1:c.1304A>G (TSEN2) | ENSP00000505105.1:p.Asp435Gly | |
| ENST00000681482.1:c.1382A>G (TSEN2) | ENSP00000505436.1:p.Asp461Gly | |
| ENST00000681676.1:c.1304A>G (TSEN2) | ENSP00000506163.1:p.Asp435Gly | |
| ENST00000681713.1:c.*1001A>G (TSEN2) | ENSP00000506046.1:n.*1001A>G | |
| ENST00000284995.10:c.1382A>G (TSEN2) | ENSP00000284995.6:p.Asp461Gly | |
| ENST00000402228.7:c.1382A>G (TSEN2) | ENSP00000385976.3:p.Asp461Gly | |
| ENST00000412698.2:c.93+1046A>G (TSEN2) | ENSP00000408528.2:n.93+1046A>G | |
| ENST00000415684.5:c.1304A>G (TSEN2) | ENSP00000416510.1:p.Asp435Gly | |
| ENST00000454502.6:c.1205A>G (TSEN2) | ENSP00000392029.2:p.Asp402Gly | |
| ENST00000455118.5:c.229A>G (TSEN2) | ||
| ENST00000473755.5:n.3387A>G (TSEN2) | ||
| ENST00000475595.1:n.228A>G (TSEN2) | ||
| ENST00000567514.1:n.715+6802T>C (MKRN2OS) | ||
| NM_001145392.1:c.1382A>G (TSEN2) | NP_001138864.1:p.Asp461Gly | |
| NM_001145393.1:c.1304A>G (TSEN2) | NP_001138865.1:p.Asp435Gly | |
| NM_001145394.1:c.1205A>G (TSEN2) | NP_001138866.1:p.Asp402Gly | |
| NM_025265.3:c.1382A>G (TSEN2) | NP_079541.1:p.Asp461Gly | |
| XM_005265495.1:c.1382A>G (TSEN2) | XP_005265552.1:p.Asp461Gly | |
| XM_005265497.1:c.1304A>G (TSEN2) | XP_005265554.1:p.Asp435Gly | |
| XM_005265498.1:c.1253A>G (TSEN2) | XP_005265555.1:p.Asp418Gly | |
| XM_011534138.1:c.1115A>G (TSEN2) | XP_011532440.1:p.Asp372Gly | |
| XM_011534139.1:c.1109A>G (TSEN2) | XP_011532441.1:p.Asp370Gly | |
| XR_245158.1:n.1485A>G (TSEN2) | ||
| XR_245159.3:n.1485A>G (TSEN2) | ||
| XR_427295.2:n.3387A>G (TSEN2) | ||
| XR_427296.1:n.1295A>G (TSEN2) | ||
| NM_001145393.2:c.1304A>G (TSEN2) | NP_001138865.1:p.Asp435Gly | |
| NM_001321277.1:c.1382A>G (TSEN2) | NP_001308206.1:p.Asp461Gly | |
| NM_001321278.1:c.1338+1046A>G (TSEN2) | NP_001308207.1:n.1338+1046A>G | |
| NM_001321279.1:c.1304A>G (TSEN2) | NP_001308208.1:p.Asp435Gly | |
| NR_135607.1:n.1485A>G (TSEN2) | ||
| XM_011534139.3:c.1109A>G (TSEN2) | XP_011532441.1:p.Asp370Gly | |
| XM_017007292.1:c.1439A>G (TSEN2) | XP_016862781.1:p.Asp480Gly | |
| XM_017007293.1:c.1439A>G (TSEN2) | XP_016862782.1:p.Asp480Gly | |
| XM_017007294.1:c.1439A>G (TSEN2) | XP_016862783.1:p.Asp480Gly | |
| XM_017007295.2:c.1439A>G (TSEN2) | XP_016862784.1:p.Asp480Gly | |
| XM_017007296.2:c.1382A>G (TSEN2) | XP_016862785.1:p.Asp461Gly | |
| XM_017007297.1:c.1361A>G (TSEN2) | XP_016862786.1:p.Asp454Gly | |
| XM_024453785.1:c.1304A>G (TSEN2) | XP_024309553.1:p.Asp435Gly | |
| XR_001740287.1:n.1826A>G (TSEN2) | ||
| XR_001740288.2:n.1826A>G (TSEN2) | ||
| XR_001740289.2:n.1769A>G (TSEN2) | ||
| XR_001740290.2:n.1383A>G (TSEN2) | ||
| XR_001740291.1:n.1691A>G (TSEN2) | ||
| XR_001740292.1:n.1789A>G (TSEN2) | ||
| XR_001740293.1:n.1789A>G (TSEN2) | ||
| XR_001740294.2:n.1424A>G (TSEN2) | ||
| XR_001740295.2:n.1346A>G (TSEN2) | ||
| XR_001740296.1:n.1636A>G (TSEN2) | ||
| XR_001740297.1:n.1954A>G (TSEN2) | ||
| XR_001740298.2:n.1271A>G (TSEN2) | ||
| XR_001740300.2:n.1589A>G (TSEN2) | ||
| XR_001740301.2:n.1589A>G (TSEN2) | ||
| XR_001740302.2:n.1552A>G (TSEN2) | ||
| XR_001740303.2:n.1399A>G (TSEN2) | ||
| XR_001740304.1:n.1707A>G (TSEN2) | ||
| XR_002959592.1:n.1560A>G (TSEN2) | ||
| XR_002959593.1:n.1517A>G (TSEN2) | ||
| XR_002959594.1:n.1557A>G (TSEN2) | ||
| XR_002959595.1:n.1897A>G (TSEN2) | ||
| XR_427296.2:n.1271A>G (TSEN2) | ||
| NM_001321278.2:c.1338+1046A>G (TSEN2) | NP_001308207.1:n.1338+1046A>G | |
| NM_025265.4:c.1382A>G (TSEN2) MANE Select | NP_079541.1:p.Asp461Gly | |
| NR_135607.2:n.1437A>G (TSEN2) | ||
| NM_001145392.2:c.1382A>G (TSEN2) | NP_001138864.1:p.Asp461Gly | |
| NM_001145393.3:c.1304A>G (TSEN2) | NP_001138865.1:p.Asp435Gly | |
| NM_001145394.2:c.1205A>G (TSEN2) | NP_001138866.1:p.Asp402Gly | |
| NM_001321277.2:c.1382A>G (TSEN2) | NP_001308206.1:p.Asp461Gly | |
| NM_001321279.2:c.1304A>G (TSEN2) | NP_001308208.1:p.Asp435Gly |