Revel Score:
ENST00000305231 (MANE Select)
0.056
ENST00000508661
0.056
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0001097 (SAS)
Exomes Max Group AF
0.00011549 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.69096731G>A , CM000666.2:g.69096731G>A | GRCh38 |
| NC_000004.11:g.69962449G>A , CM000666.1:g.69962449G>A | GRCh37 |
| NC_000004.10:g.69997038G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305231.12:c.211G>A (UGT2B7) MANE Select | ENSP00000304811.7:p.Ala71Thr | |
| ENST00000305231.11:c.211G>A (UGT2B7) | ENSP00000304811.7:p.Ala71Thr | |
| ENST00000502942.5:c.-26-1809G>A (UGT2B7) | ENSP00000426206.1:n.-26-1809G>A | |
| ENST00000508661.5:c.211G>A (UGT2B7) | ENSP00000427659.1:p.Ala71Thr | |
| ENST00000509763.1:n.260-1809G>A (UGT2B7) | ||
| ENST00000615638.4:c.*106-91978C>T (UGT2B11) | ENSP00000477842.1:n.*106-91978C>T | |
| ENST00000620779.4:c.*380-91978C>T (UGT2B11) | ENSP00000478182.1:n.*380-91978C>T | |
| ENST00000622664.1:c.211G>A (UGT2B7) | ENSP00000483172.1:p.Ala71Thr | |
| NM_001074.2:c.211G>A (UGT2B7) | NP_001065.2:p.Ala71Thr | |
| XM_005265702.2:c.-26-1809G>A (UGT2B7) | XP_005265759.1:n.-26-1809G>A | |
| XM_011532229.1:c.211G>A (UGT2B7) | XP_011530531.1:p.Ala71Thr | |
| XM_011532230.1:c.211G>A (UGT2B7) | XP_011530532.1:p.Ala71Thr | |
| XM_011532231.1:c.-26-1809G>A (UGT2B7) | XP_011530533.1:n.-26-1809G>A | |
| NM_001074.3:c.211G>A (UGT2B7) | NP_001065.2:p.Ala71Thr | |
| NM_001330719.1:c.211G>A (UGT2B7) | NP_001317648.1:p.Ala71Thr | |
| NM_001349568.1:c.-26-1809G>A (UGT2B7) | NP_001336497.1:n.-26-1809G>A | |
| XM_011532229.2:c.211G>A (UGT2B7) | XP_011530531.1:p.Ala71Thr | |
| NM_001074.4:c.211G>A (UGT2B7) MANE Select | NP_001065.2:p.Ala71Thr | |
| NM_001330719.2:c.211G>A (UGT2B7) | NP_001317648.1:p.Ala71Thr | |
| NM_001349568.2:c.-26-1809G>A (UGT2B7) | NP_001336497.1:n.-26-1809G>A |