Linked Data
ClinVar Variation Id:
35747
ClinVar RCV Id:
RCV000029398
dbSNP Id:
rs193922121
PubMed:
PMID:9773787
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153906344dup , CM000685.2:g.153906344dup | GRCh38 |
| NC_000023.10:g.153171798dup , CM000685.1:g.153171798dup | GRCh37 |
| NC_000023.9:g.152824992dup | NCBI36 |
| NG_008687.1:g.6371dup | |
| NG_009645.3:g.7880dup | |
| NG_013220.1:g.24917dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646375.2:c.838dup (AVPR2) MANE Select | ENSP00000496396.1:p.Tyr280LeufsTer? | |
| ENST00000434679.6:c.*204dup (AVPR2) | ENSP00000393397.1:n.*204dup | |
| ENST00000642393.1:c.97+2726dup | ||
| ENST00000646191.1:c.97+2726dup | ||
| ENST00000646375.1:c.838dup (AVPR2) | ENSP00000496396.1:p.Tyr280LeufsTer? | |
| ENST00000337474.5:c.838dup (AVPR2) | ENSP00000338072.5:p.Tyr280LeufsTer? | |
| ENST00000358927.6:c.838dup (AVPR2) | ENSP00000351805.2:p.Tyr280LeufsTer? | |
| ENST00000370049.1:c.838dup (AVPR2) | ENSP00000359066.1:p.Tyr280LeufsTer28 | |
| ENST00000430697.1:c.822+16dup (AVPR2) | ENSP00000393513.1:n.822+16dup | |
| ENST00000434679.5:c.*204dup (AVPR2) | ENSP00000393397.1:n.*204dup | |
| ENST00000464967.5:n.154+2726dup (L1CAM) | ||
| NM_000054.4:c.838dup (AVPR2) | NP_000045.1:p.Tyr280LeufsTer? | |
| NM_001146151.1:c.838dup (AVPR2) | NP_001139623.1:p.Tyr280LeufsTer28 | |
| NR_027419.1:n.885dup (AVPR2) | ||
| XM_006724828.2:c.838dup (AVPR2) | XP_006724891.1:p.Tyr280LeufsTer? | |
| NM_000054.5:c.838dup (AVPR2) | NP_000045.1:p.Tyr280LeufsTer? | |
| NM_001146151.2:c.838dup (AVPR2) | NP_001139623.1:p.Tyr280LeufsTer28 | |
| XM_006724828.3:c.838dup (AVPR2) | XP_006724891.1:p.Tyr280LeufsTer? | |
| NM_000054.6:c.838dup (AVPR2) | NP_000045.1:p.Tyr280LeufsTer? | |
| NM_001146151.3:c.838dup (AVPR2) | NP_001139623.1:p.Tyr280LeufsTer28 | |
| NR_027419.2:n.791dup (AVPR2) | ||
| NM_000054.7:c.838dup (AVPR2) MANE Select | NP_000045.1:p.Tyr280LeufsTer? |