Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110508018C>T , CM000675.2:g.110508018C>T | GRCh38 |
| NC_000013.10:g.111160365C>T , CM000675.1:g.111160365C>T | GRCh37 |
| NC_000013.9:g.109958366C>T | NCBI36 |
| NG_032137.1:g.205735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.4678C>T (COL4A2) MANE Select | ENSP00000353654.5:p.Arg1560Trp | |
| ENST00000650225.1:n.2333C>T (COL4A2) | ||
| ENST00000360467.5:c.4678C>T (COL4A2) | ENSP00000353654.5:p.Arg1560Trp | |
| ENST00000463084.1:n.276C>T (COL4A2) | ||
| ENST00000480609.1:n.223C>T (COL4A2) | ||
| NM_001846.2:c.4678C>T (COL4A2) | NP_001837.2:p.Arg1560Trp | |
| NR_046583.1:n.81+81G>A (COL4A2-AS1) | ||
| NM_001846.3:c.4678C>T (COL4A2) | NP_001837.2:p.Arg1560Trp | |
| NM_001846.4:c.4678C>T (COL4A2) MANE Select | NP_001837.2:p.Arg1560Trp |