Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110508078G>A , CM000675.2:g.110508078G>A | GRCh38 |
| NC_000013.10:g.111160425G>A , CM000675.1:g.111160425G>A | GRCh37 |
| NC_000013.9:g.109958426G>A | NCBI36 |
| NG_032137.1:g.205795G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.4738G>A (COL4A2) MANE Select | ENSP00000353654.5:p.Glu1580Lys | |
| ENST00000650225.1:n.2393G>A (COL4A2) | ||
| ENST00000360467.5:c.4738G>A (COL4A2) | ENSP00000353654.5:p.Glu1580Lys | |
| ENST00000463084.1:n.336G>A (COL4A2) | ||
| ENST00000480609.1:n.283G>A (COL4A2) | ||
| NM_001846.2:c.4738G>A (COL4A2) | NP_001837.2:p.Glu1580Lys | |
| NR_046583.1:n.81+21C>T (COL4A2-AS1) | ||
| NM_001846.3:c.4738G>A (COL4A2) | NP_001837.2:p.Glu1580Lys | |
| NM_001846.4:c.4738G>A (COL4A2) MANE Select | NP_001837.2:p.Glu1580Lys |