Revel Score:
ENST00000382082 (MANE Select)
0.985
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729465G>A , CM000671.2:g.2729465G>A | GRCh38 |
| NC_000009.11:g.2729465G>A , CM000671.1:g.2729465G>A | GRCh37 |
| NC_000009.10:g.2719465G>A | NCBI36 |
| NG_012181.1:g.16940G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1376G>A (KCNV2) MANE Select | ENSP00000371514.3:p.Gly459Asp | |
| ENST00000382082.3:c.1376G>A (KCNV2) | ENSP00000371514.3:p.Gly459Asp | |
| ENST00000490444.2:c.277-8933C>T (PUM3) | ENSP00000474467.1:n.277-8933C>T | |
| NM_133497.3:c.1376G>A (KCNV2) | NP_598004.1:p.Gly459Asp | |
| XR_929202.1:n.2021G>A (KCNV2) | ||
| NM_133497.4:c.1376G>A (KCNV2) MANE Select | NP_598004.1:p.Gly459Asp |