Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729465G= , CM000671.2:g.2729465G= | GRCh38 |
| NC_000009.11:g.2729465G= , CM000671.1:g.2729465G= | GRCh37 |
| NC_000009.10:g.2719465G= | NCBI36 |
| NG_012181.1:g.16940G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133497.4:c.1376G= (KCNV2) MANE Select | NP_598004.1:p.Gly459= |
| ENST00000382082.4:c.1376G= (KCNV2) MANE Select | ENSP00000371514.3:p.Gly459= |
| NM_133497.3:c.1376G= (KCNV2) | NP_598004.1:p.Gly459= |
| ENST00000382082.3:c.1376G= (KCNV2) | ENSP00000371514.3:p.Gly459= |
| ENST00000490444.2:c.277-8933C= (PUM3) | ENSP00000474467.1:n.277-8933C= |
| XR_929202.1:n.2021G= (KCNV2) |