Linked Data
dbSNP Id:
rs142185527
ExAC:
X:153172120 G / C
gnomAD v2:
X-153172120-G-C
gnomAD v3:
X-153906666-G-C
gnomAD v4:
X-153906666-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153906666G>C , CM000685.2:g.153906666G>C | GRCh38 |
| NC_000023.10:g.153172120G>C , CM000685.1:g.153172120G>C | GRCh37 |
| NC_000023.9:g.152825314G>C | NCBI36 |
| NG_008687.1:g.6693G>C | |
| NG_009645.3:g.7558C>G | |
| NG_013220.1:g.24595C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646375.2:c.1054G>C (AVPR2) MANE Select | ENSP00000496396.1:p.Gly352Arg | |
| ENST00000434679.6:c.*420G>C (AVPR2) | ENSP00000393397.1:n.*420G>C | |
| ENST00000642393.1:c.97+2404C>G | ||
| ENST00000646191.1:c.97+2404C>G | ||
| ENST00000646375.1:c.1054G>C (AVPR2) | ENSP00000496396.1:p.Gly352Arg | |
| ENST00000337474.5:c.1054G>C (AVPR2) | ENSP00000338072.5:p.Gly352Arg | |
| ENST00000358927.6:c.1054G>C (AVPR2) | ENSP00000351805.2:p.Gly352Arg | |
| ENST00000370049.1:c.*230G>C (AVPR2) | ENSP00000359066.1:n.*230G>C | |
| ENST00000430697.1:c.966G>C (AVPR2) | ENSP00000393513.1:p.Trp322Cys | |
| ENST00000434679.5:c.*420G>C (AVPR2) | ENSP00000393397.1:n.*420G>C | |
| ENST00000464967.5:n.154+2404C>G (L1CAM) | ||
| NM_000054.4:c.1054G>C (AVPR2) | NP_000045.1:p.Gly352Arg | |
| NM_001146151.1:c.*230G>C (AVPR2) | NP_001139623.1:n.*230G>C | |
| NR_027419.1:n.1101G>C (AVPR2) | ||
| XM_006724828.2:c.1054G>C (AVPR2) | XP_006724891.1:p.Gly352Arg | |
| NM_000054.5:c.1054G>C (AVPR2) | NP_000045.1:p.Gly352Arg | |
| NM_001146151.2:c.*230G>C (AVPR2) | NP_001139623.1:n.*230G>C | |
| XM_006724828.3:c.1054G>C (AVPR2) | XP_006724891.1:p.Gly352Arg | |
| NM_000054.6:c.1054G>C (AVPR2) | NP_000045.1:p.Gly352Arg | |
| NM_001146151.3:c.*230G>C (AVPR2) | NP_001139623.1:n.*230G>C | |
| NR_027419.2:n.1007G>C (AVPR2) | ||
| NM_000054.7:c.1054G>C (AVPR2) MANE Select | NP_000045.1:p.Gly352Arg |