ELL2
elongation factor for RNA polymerase II 2
Summary
Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in snRNA transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1412745681 | 5:95,226,816 | T/G | — | uncertain significance |
| rs6890954 | 5:95,229,429 | T/C | intron variant | — |
| rs967546 | 5:95,232,551 | G/A | intron variant | — |
| rs200730667 | 5:95,234,002 | A/C | — | uncertain significance |
| rs745975751 | 5:95,234,060 | T/G | — | uncertain significance |
| rs764210324 | 5:95,234,091 | T/C | — | uncertain significance |
| rs1376382332 | 5:95,234,136 | G/T | — | uncertain significance |
| rs2531186832 | 5:95,234,249 | G/A | — | uncertain significance |
| rs757275862 | 5:95,234,256 | G/A | — | uncertain significance |
| rs2531187300 | 5:95,234,355 | T/G | — | uncertain significance |
| rs3777200 | 5:95,234,791 | C/T | intron variant | — |
| rs766253924 | 5:95,236,447 | G/A | — | uncertain significance |
| rs138311898 | 5:95,236,473 | G/A | — | uncertain significance |
| rs565627828 | 5:95,237,761 | C/A | — | — |
| rs11744881 | 5:95,240,865 | A/G | — | — |
| rs10069748 | 5:95,241,222 | T/C | intron variant | — |
| rs773358086 | 5:95,242,264 | T/G | — | uncertain significance |
| rs572461947 | 5:95,242,468 | C/G | — | uncertain significance |
| rs56219066 | 5:95,242,931 | T/A | — | — |
| rs3777193 | 5:95,246,760 | G/A | intron variant | — |
| rs754623520 | 5:95,249,499 | T/A | — | uncertain significance |
| rs146144447 | 5:95,249,552 | C/T | — | uncertain significance |
| rs558937842 | 5:95,250,526 | G/A | — | — |
| rs3777189 | 5:95,253,108 | C/G | — | benign |
| rs902359213 | 5:95,255,129 | T/A | — | uncertain significance |
| rs771004926 | 5:95,255,218 | T/C | — | uncertain significance |
| rs1423269 | 5:95,255,724 | A/G | regulatory region variant | — |
| rs3777185 | 5:95,259,862 | C/T | — | benign |
| rs11738945 | 5:95,262,513 | C/T | intron variant | — |
| rs200572943 | 5:95,263,078 | C/A | — | — |
| rs3777183 | 5:95,263,735 | G/T | — | — |
| rs3777182 | 5:95,263,752 | T/A | regulatory region variant | — |
| rs4563648 | 5:95,265,556 | G/A | — | benign |
| rs115906455 | 5:95,270,392 | G/A | regulatory region variant | — |
| rs116067231 | 5:95,272,737 | G/A | intron variant | — |
| rs7700895 | 5:95,273,410 | T/A | intron variant | — |
| rs146249322 | 5:95,278,729 | T/C | — | likely benign |
| rs140383562 | 5:95,284,615 | C/T | regulatory region variant | — |
| rs774289852 | 5:95,297,328 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.