Linked Data
ClinVar Variation Id:
2290782
ClinVar RCV Id:
RCV004139807
dbSNP Id:
rs533062558
ExAC:
19:57286081 T / C
gnomAD v2:
19-57286081-T-C
gnomAD v3:
19-56774713-T-C
gnomAD v4:
19-56774713-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.56774713T>C , CM000681.2:g.56774713T>C | GRCh38 |
| NC_000019.9:g.57286081T>C , CM000681.1:g.57286081T>C | GRCh37 |
| NC_000019.8:g.61977893T>C | NCBI36 |
| NG_012989.1:g.71017A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629319.3:c.1652A>G (ZIM2) MANE Select | ENSP00000486502.2:p.Lys551Arg | |
| ENST00000689654.1:c.1652A>G (ZIM2) | ENSP00000510784.1:p.Lys551Arg | |
| ENST00000693159.1:c.*1142A>G (ZIM2) | ENSP00000510417.1:n.*1142A>G | |
| ENST00000593711.6:c.1559A>G (ZIM2) | ENSP00000472306.1:p.Lys520Arg | |
| ENST00000650111.1:c.*1142A>G (ZIM2) | ENSP00000497728.1:n.*1142A>G | |
| ENST00000593711.5:c.1559A>G (ZIM2) | ENSP00000472306.1:p.Lys520Arg | |
| ENST00000595671.5:c.*1142A>G (ZIM2) | ENSP00000469185.1:n.*1142A>G | |
| ENST00000597281.5:c.*1142A>G (ZIM2) | ENSP00000471643.1:n.*1142A>G | |
| ENST00000599935.5:c.1559A>G (ZIM2) | ENSP00000468984.1:p.Lys520Arg | |
| ENST00000601070.5:c.1559A>G (ZIM2) | ENSP00000470326.1:p.Lys520Arg | |
| ENST00000629319.2:c.1559A>G (ZIM2) | ENSP00000486502.1:p.Lys520Arg | |
| NM_001146326.1:c.1559A>G (ZIM2) | NP_001139798.1:p.Lys520Arg | |
| NM_001146327.1:c.1559A>G (ZIM2) | NP_001139799.1:p.Lys520Arg | |
| NM_015363.4:c.1559A>G (ZIM2) | NP_056178.3:p.Lys520Arg | |
| NR_110744.1:n.93+9299T>C (ZIM2-AS1) | ||
| NM_001146326.2:c.1559A>G (ZIM2) | NP_001139798.1:p.Lys520Arg | |
| NM_001369770.1:c.1559A>G (ZIM2) | NP_001356699.1:p.Lys520Arg | |
| NM_001369771.1:c.1559A>G (ZIM2) | NP_001356700.1:p.Lys520Arg | |
| NM_001369772.1:c.1559A>G (ZIM2) | NP_001356701.1:p.Lys520Arg | |
| NM_001369773.1:c.1652A>G (ZIM2) | NP_001356702.1:p.Lys551Arg | |
| NM_001369774.1:c.1652A>G (ZIM2) | NP_001356703.1:p.Lys551Arg | |
| NM_015363.5:c.1559A>G (ZIM2) | NP_056178.3:p.Lys520Arg | |
| NR_163140.1:n.2089A>G (ZIM2) | ||
| NR_163141.1:n.2106A>G (ZIM2) | ||
| NR_163142.1:n.2237A>G (ZIM2) | ||
| NR_163143.1:n.2403A>G (ZIM2) | ||
| NM_001146327.2:c.1559A>G (ZIM2) | NP_001139799.1:p.Lys520Arg | |
| NM_001387356.1:c.1652A>G (ZIM2) MANE Select | NP_001374285.1:p.Lys551Arg | |
| NM_001387357.1:c.1559A>G (ZIM2) | NP_001374286.1:p.Lys520Arg | |
| NM_001387358.1:c.1559A>G (ZIM2) | NP_001374287.1:p.Lys520Arg |