Linked Data
ClinVar Variation Id:
366480
ClinVar RCV Id:
RCV000382925
dbSNP Id:
rs886063832
gnomAD v4:
9-2729817-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729817A>G , CM000671.2:g.2729817A>G | GRCh38 |
| NC_000009.11:g.2729817A>G , CM000671.1:g.2729817A>G | GRCh37 |
| NC_000009.10:g.2719817A>G | NCBI36 |
| NG_012181.1:g.17292A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.*90A>G (KCNV2) MANE Select | ENSP00000371514.3:n.*90A>G | |
| ENST00000382082.3:c.*90A>G (KCNV2) | ENSP00000371514.3:n.*90A>G | |
| ENST00000490444.2:c.277-9285T>C (PUM3) | ENSP00000474467.1:n.277-9285T>C | |
| NM_133497.3:c.*90A>G (KCNV2) | NP_598004.1:n.*90A>G | |
| NM_133497.4:c.*90A>G (KCNV2) MANE Select | NP_598004.1:n.*90A>G |