Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110503664A>C , CM000675.2:g.110503664A>C | GRCh38 |
| NC_000013.10:g.111156011A>C , CM000675.1:g.111156011A>C | GRCh37 |
| NC_000013.9:g.109954012A>C | NCBI36 |
| NG_032137.1:g.201381A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.4139-183A>C (COL4A2) MANE Select | ENSP00000353654.5:n.4139-183A>C | |
| ENST00000650225.1:n.1794-183A>C (COL4A2) | ||
| ENST00000360467.5:c.4139-183A>C (COL4A2) | ENSP00000353654.5:n.4139-183A>C | |
| NM_001846.2:c.4139-183A>C (COL4A2) | NP_001837.2:n.4139-183A>C | |
| NR_046583.1:n.187-736T>G (COL4A2-AS1) | ||
| NM_001846.3:c.4139-183A>C (COL4A2) | NP_001837.2:n.4139-183A>C | |
| NM_001846.4:c.4139-183A>C (COL4A2) MANE Select | NP_001837.2:n.4139-183A>C |