Linked Data
dbSNP Id:
rs746407325
gnomAD v2:
9-2729353-A-G
gnomAD v3:
9-2729353-A-G
gnomAD v4:
9-2729353-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2729353A>G , CM000671.2:g.2729353A>G | GRCh38 |
| NC_000009.11:g.2729353A>G , CM000671.1:g.2729353A>G | GRCh37 |
| NC_000009.10:g.2719353A>G | NCBI36 |
| NG_012181.1:g.16828A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.1357-93A>G (KCNV2) MANE Select | ENSP00000371514.3:n.1357-93A>G | |
| ENST00000382082.3:c.1357-93A>G (KCNV2) | ENSP00000371514.3:n.1357-93A>G | |
| ENST00000490444.2:c.277-8821T>C (PUM3) | ENSP00000474467.1:n.277-8821T>C | |
| NM_133497.3:c.1357-93A>G (KCNV2) | NP_598004.1:n.1357-93A>G | |
| XR_929202.1:n.2002-93A>G (KCNV2) | ||
| XR_929203.1:n.2329A>G (KCNV2) | ||
| NM_133497.4:c.1357-93A>G (KCNV2) MANE Select | NP_598004.1:n.1357-93A>G |