Linked Data
ClinVar Variation Id:
2577303
dbSNP Id:
rs781996624
ExAC:
X:153172084 C / T
gnomAD v2:
X-153172084-C-T
gnomAD v4:
X-153906630-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153906630C>T , CM000685.2:g.153906630C>T | GRCh38 |
| NC_000023.10:g.153172084C>T , CM000685.1:g.153172084C>T | GRCh37 |
| NC_000023.9:g.152825278C>T | NCBI36 |
| NG_008687.1:g.6657C>T | |
| NG_009645.3:g.7594G>A | |
| NG_013220.1:g.24631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646375.2:c.1018C>T (AVPR2) MANE Select | ENSP00000496396.1:p.Leu340Phe | |
| ENST00000434679.6:c.*384C>T (AVPR2) | ENSP00000393397.1:n.*384C>T | |
| ENST00000642393.1:c.97+2440G>A | ||
| ENST00000646191.1:c.97+2440G>A | ||
| ENST00000646375.1:c.1018C>T (AVPR2) | ENSP00000496396.1:p.Leu340Phe | |
| ENST00000337474.5:c.1018C>T (AVPR2) | ENSP00000338072.5:p.Leu340Phe | |
| ENST00000358927.6:c.1018C>T (AVPR2) | ENSP00000351805.2:p.Leu340Phe | |
| ENST00000370049.1:c.*194C>T (AVPR2) | ENSP00000359066.1:n.*194C>T | |
| ENST00000430697.1:c.930C>T (AVPR2) | ENSP00000393513.1:p.Cys310= | |
| ENST00000434679.5:c.*384C>T (AVPR2) | ENSP00000393397.1:n.*384C>T | |
| ENST00000464967.5:n.154+2440G>A (L1CAM) | ||
| NM_000054.4:c.1018C>T (AVPR2) | NP_000045.1:p.Leu340Phe | |
| NM_001146151.1:c.*194C>T (AVPR2) | NP_001139623.1:n.*194C>T | |
| NR_027419.1:n.1065C>T (AVPR2) | ||
| XM_006724828.2:c.1018C>T (AVPR2) | XP_006724891.1:p.Leu340Phe | |
| NM_000054.5:c.1018C>T (AVPR2) | NP_000045.1:p.Leu340Phe | |
| NM_001146151.2:c.*194C>T (AVPR2) | NP_001139623.1:n.*194C>T | |
| XM_006724828.3:c.1018C>T (AVPR2) | XP_006724891.1:p.Leu340Phe | |
| NM_000054.6:c.1018C>T (AVPR2) | NP_000045.1:p.Leu340Phe | |
| NM_001146151.3:c.*194C>T (AVPR2) | NP_001139623.1:n.*194C>T | |
| NR_027419.2:n.971C>T (AVPR2) | ||
| NM_000054.7:c.1018C>T (AVPR2) MANE Select | NP_000045.1:p.Leu340Phe |