gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34636189 (AFR)
Genomes Max Group AF
0.34474097 (AFR)
Exomes Max Group AF
0.34541152 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74855011T>C , CM000676.2:g.74855011T>C | GRCh38 |
| NC_000014.8:g.75321714T>C , CM000676.1:g.75321714T>C | GRCh37 |
| NC_000014.7:g.74391467T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556489.4:c.*121A>G (PROX2) MANE Select | ENSP00000451223.2:n.*121A>G | |
| ENST00000673765.1:c.*121A>G (PROX2) | ENSP00000501015.1:n.*121A>G | |
| ENST00000553381.1:n.238-206T>C (YLPM1) | ||
| ENST00000554107.2:c.206-206T>C (YLPM1) | ||
| ENST00000556084.6:c.1219A>G (PROX2) | ENSP00000451463.2:n.1219A>G | |
| ENST00000556489.3:c.1900A>G (PROX2) | ENSP00000451223.2:n.1900A>G | |
| NM_001080408.2:c.1219A>G (PROX2) | NP_001073877.2:n.1219A>G | |
| NM_001243007.1:c.1900A>G (PROX2) | NP_001229936.1:n.1900A>G | |
| XM_005267543.2:c.*121A>G (PROX2) | XP_005267600.1:n.*121A>G | |
| NM_001080408.3:c.*121A>G (PROX2) | NP_001073877.2:n.*121A>G | |
| NM_001243007.2:c.*121A>G (PROX2) MANE Select | NP_001229936.1:n.*121A>G | |
| NM_001384314.1:c.*121A>G (PROX2) | NP_001371243.1:n.*121A>G | |
| NR_169190.1:n.2525A>G (PROX2) |