Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110506464C>T , CM000675.2:g.110506464C>T | GRCh38 |
| NC_000013.10:g.111158811C>T , CM000675.1:g.111158811C>T | GRCh37 |
| NC_000013.9:g.109956812C>T | NCBI36 |
| NG_032137.1:g.204181C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.4452C>T (COL4A2) MANE Select | NP_001837.2:p.Arg1484= |
| ENST00000360467.7:c.4452C>T (COL4A2) MANE Select | ENSP00000353654.5:p.Arg1484= |
| NM_001846.2:c.4452C>T (COL4A2) | NP_001837.2:p.Arg1484= |
| NM_001846.3:c.4452C>T (COL4A2) | NP_001837.2:p.Arg1484= |
| NR_046583.1:n.186+1183G>A (COL4A2-AS1) | |
| ENST00000360467.5:c.4452C>T (COL4A2) | ENSP00000353654.5:p.Arg1484= |
| ENST00000649396.1:n.410C>T (COL4A2) | |
| ENST00000650225.1:n.2107C>T (COL4A2) | |
| ENST00000650322.1:n.384C>T (COL4A2) |