Linked Data
ClinVar Variation Id:
2127511
ClinVar RCV Id:
RCV003055535
dbSNP Id:
rs1322585642
gnomAD v2:
17-36891838-G-T
gnomAD v3:
17-38735585-G-T
gnomAD v4:
17-38735585-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38735585G>T , CM000679.2:g.38735585G>T | GRCh38 |
| NC_000017.10:g.36891838G>T , CM000679.1:g.36891838G>T | GRCh37 |
| NC_000017.9:g.34145364G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613478.2:c.*2130G>T (CISD3) MANE Select | ENSP00000483781.1:n.*2130G>T | |
| ENST00000620225.5:c.673C>A (PCGF2) MANE Select | ENSP00000482815.1:p.Leu225Ile | |
| ENST00000610747.1:c.12C>A (PCGF2) | ||
| ENST00000611883.4:c.673C>A (PCGF2) | ENSP00000478970.1:p.Leu225Ile | |
| ENST00000616129.4:c.677C>A (PCGF2) | ENSP00000484201.1:p.Pro226His | |
| ENST00000616199.4:c.673C>A (PCGF2) | ENSP00000482063.1:p.Leu225Ile | |
| ENST00000618506.1:c.515C>A (PCGF2) | ENSP00000484721.1:p.Pro172His | |
| ENST00000618941.4:c.677C>A (PCGF2) | ENSP00000481656.1:p.Pro226His | |
| ENST00000620225.4:c.673C>A (PCGF2) | ENSP00000482815.1:p.Leu225Ile | |
| NM_001136498.1:c.*2130G>T (CISD3) | NP_001129970.1:n.*2130G>T | |
| NM_007144.2:c.673C>A (PCGF2) | NP_009075.1:p.Leu225Ile | |
| XM_005257640.1:c.673C>A (PCGF2) | XP_005257697.1:p.Leu225Ile | |
| XM_005257641.3:c.673C>A (PCGF2) | XP_005257698.1:p.Leu225Ile | |
| XM_005257642.2:c.673C>A (PCGF2) | XP_005257699.1:p.Leu225Ile | |
| XM_005257640.2:c.673C>A (PCGF2) | XP_005257697.1:p.Leu225Ile | |
| XM_005257641.5:c.673C>A (PCGF2) | XP_005257698.1:p.Leu225Ile | |
| XM_005257642.3:c.673C>A (PCGF2) | XP_005257699.1:p.Leu225Ile | |
| XM_017025016.1:c.673C>A (PCGF2) | XP_016880505.1:p.Leu225Ile | |
| NM_007144.3:c.673C>A (PCGF2) MANE Select | NP_009075.1:p.Leu225Ile | |
| NM_001136498.2:c.*2130G>T (CISD3) MANE Select | NP_001129970.1:n.*2130G>T | |
| NM_001369614.1:c.673C>A (PCGF2) | NP_001356543.1:p.Leu225Ile | |
| NM_001369615.1:c.673C>A (PCGF2) | NP_001356544.1:p.Leu225Ile |