Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110462616G>T , CM000675.2:g.110462616G>T | GRCh38 |
| NC_000013.10:g.111114963G>T , CM000675.1:g.111114963G>T | GRCh37 |
| NC_000013.9:g.109912964G>T | NCBI36 |
| NG_032137.1:g.160333G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.1776+232G>T (COL4A2) MANE Select | NP_001837.2:n.1776+232G>T |
| ENST00000360467.7:c.1776+232G>T (COL4A2) MANE Select | ENSP00000353654.5:n.1776+232G>T |
| NM_001267044.1:c.72+407C>A (COL4A2-AS2) | NP_001253973.1:n.72+407C>A |
| NM_001846.2:c.1776+232G>T (COL4A2) | NP_001837.2:n.1776+232G>T |
| NM_001846.3:c.1776+232G>T (COL4A2) | NP_001837.2:n.1776+232G>T |
| NR_171022.1:n.265+407C>A (COL4A2-AS2) | |
| ENST00000360467.5:c.1776+232G>T (COL4A2) | ENSP00000353654.5:n.1776+232G>T |
| XR_158875.3:n.619+407C>A (COL4A2-AS2) |