Linked Data
dbSNP Id:
rs782743112
ExAC:
X:153172096 C / G
gnomAD v2:
X-153172096-C-G
gnomAD v4:
X-153906642-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153906642C>G , CM000685.2:g.153906642C>G | GRCh38 |
| NC_000023.10:g.153172096C>G , CM000685.1:g.153172096C>G | GRCh37 |
| NC_000023.9:g.152825290C>G | NCBI36 |
| NG_008687.1:g.6669C>G | |
| NG_009645.3:g.7582G>C | |
| NG_013220.1:g.24619G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646375.2:c.1030C>G (AVPR2) MANE Select | ENSP00000496396.1:p.Arg344Gly | |
| ENST00000434679.6:c.*396C>G (AVPR2) | ENSP00000393397.1:n.*396C>G | |
| ENST00000642393.1:c.97+2428G>C | ||
| ENST00000646191.1:c.97+2428G>C | ||
| ENST00000646375.1:c.1030C>G (AVPR2) | ENSP00000496396.1:p.Arg344Gly | |
| ENST00000337474.5:c.1030C>G (AVPR2) | ENSP00000338072.5:p.Arg344Gly | |
| ENST00000358927.6:c.1030C>G (AVPR2) | ENSP00000351805.2:p.Arg344Gly | |
| ENST00000370049.1:c.*206C>G (AVPR2) | ENSP00000359066.1:n.*206C>G | |
| ENST00000430697.1:c.942C>G (AVPR2) | ENSP00000393513.1:p.Pro314= | |
| ENST00000434679.5:c.*396C>G (AVPR2) | ENSP00000393397.1:n.*396C>G | |
| ENST00000464967.5:n.154+2428G>C (L1CAM) | ||
| NM_000054.4:c.1030C>G (AVPR2) | NP_000045.1:p.Arg344Gly | |
| NM_001146151.1:c.*206C>G (AVPR2) | NP_001139623.1:n.*206C>G | |
| NR_027419.1:n.1077C>G (AVPR2) | ||
| XM_006724828.2:c.1030C>G (AVPR2) | XP_006724891.1:p.Arg344Gly | |
| NM_000054.5:c.1030C>G (AVPR2) | NP_000045.1:p.Arg344Gly | |
| NM_001146151.2:c.*206C>G (AVPR2) | NP_001139623.1:n.*206C>G | |
| XM_006724828.3:c.1030C>G (AVPR2) | XP_006724891.1:p.Arg344Gly | |
| NM_000054.6:c.1030C>G (AVPR2) | NP_000045.1:p.Arg344Gly | |
| NM_001146151.3:c.*206C>G (AVPR2) | NP_001139623.1:n.*206C>G | |
| NR_027419.2:n.983C>G (AVPR2) | ||
| NM_000054.7:c.1030C>G (AVPR2) MANE Select | NP_000045.1:p.Arg344Gly |