Linked Data
ClinVar Variation Id:
866391
ClinVar RCV Id:
RCV001074330
dbSNP Id:
rs773096508
gnomAD v2:
9-2729477-T-G
gnomAD v3:
9-2729477-T-G
gnomAD v4:
9-2729477-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729477T>G , CM000671.2:g.2729477T>G | GRCh38 |
| NC_000009.11:g.2729477T>G , CM000671.1:g.2729477T>G | GRCh37 |
| NC_000009.10:g.2719477T>G | NCBI36 |
| NG_012181.1:g.16952T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1388T>G (KCNV2) MANE Select | ENSP00000371514.3:p.Met463Arg | |
| ENST00000382082.3:c.1388T>G (KCNV2) | ENSP00000371514.3:p.Met463Arg | |
| ENST00000490444.2:c.277-8945A>C (PUM3) | ENSP00000474467.1:n.277-8945A>C | |
| NM_133497.3:c.1388T>G (KCNV2) | NP_598004.1:p.Met463Arg | |
| XR_929202.1:n.2033T>G (KCNV2) | ||
| NM_133497.4:c.1388T>G (KCNV2) MANE Select | NP_598004.1:p.Met463Arg |