Revel Score:
ENST00000360467 (MANE Select)
0.968
ENST00000257309
0.968
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110503392G>A , CM000675.2:g.110503392G>A | GRCh38 |
| NC_000013.10:g.111155739G>A , CM000675.1:g.111155739G>A | GRCh37 |
| NC_000013.9:g.109953740G>A | NCBI36 |
| NG_032137.1:g.201109G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.4049G>A (COL4A2) MANE Select | ENSP00000353654.5:p.Gly1350Asp | |
| ENST00000650225.1:n.1704G>A (COL4A2) | ||
| ENST00000360467.5:c.4049G>A (COL4A2) | ENSP00000353654.5:p.Gly1350Asp | |
| NM_001846.2:c.4049G>A (COL4A2) | NP_001837.2:p.Gly1350Asp | |
| NR_046583.1:n.187-464C>T (COL4A2-AS1) | ||
| NM_001846.3:c.4049G>A (COL4A2) | NP_001837.2:p.Gly1350Asp | |
| NM_001846.4:c.4049G>A (COL4A2) MANE Select | NP_001837.2:p.Gly1350Asp |