Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110508120G>C , CM000675.2:g.110508120G>C | GRCh38 |
| NC_000013.10:g.111160467G>C , CM000675.1:g.111160467G>C | GRCh37 |
| NC_000013.9:g.109958468G>C | NCBI36 |
| NG_032137.1:g.205837G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.4780G>C (COL4A2) MANE Select | ENSP00000353654.5:p.Glu1594Gln | |
| ENST00000650225.1:n.2435G>C (COL4A2) | ||
| ENST00000360467.5:c.4780G>C (COL4A2) | ENSP00000353654.5:p.Glu1594Gln | |
| ENST00000463084.1:n.378G>C (COL4A2) | ||
| ENST00000480609.1:n.325G>C (COL4A2) | ||
| NM_001846.2:c.4780G>C (COL4A2) | NP_001837.2:p.Glu1594Gln | |
| NR_046583.1:n.60C>G (COL4A2-AS1) | ||
| NM_001846.3:c.4780G>C (COL4A2) | NP_001837.2:p.Glu1594Gln | |
| NM_001846.4:c.4780G>C (COL4A2) MANE Select | NP_001837.2:p.Glu1594Gln |