Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2721794G>A , CM000671.2:g.2721794G>A | GRCh38 |
| NC_000009.11:g.2721794G>A , CM000671.1:g.2721794G>A | GRCh37 |
| NC_000009.10:g.2711794G>A | NCBI36 |
| NG_012181.1:g.9269G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133497.4:c.1356+2699G>A (KCNV2) MANE Select | NP_598004.1:n.1356+2699G>A |
| ENST00000382082.4:c.1356+2699G>A (KCNV2) MANE Select | ENSP00000371514.3:n.1356+2699G>A |
| NM_133497.3:c.1356+2699G>A (KCNV2) | NP_598004.1:n.1356+2699G>A |
| ENST00000382082.3:c.1356+2699G>A (KCNV2) | ENSP00000371514.3:n.1356+2699G>A |
| ENST00000490444.2:c.277-1262C>T (PUM3) | ENSP00000474467.1:n.277-1262C>T |
| XR_929202.1:n.1858-2321G>A (KCNV2) | |
| XR_929203.1:n.1858-2321G>A (KCNV2) |