Linked Data
ClinVar Variation Id:
426788
ClinVar RCV Id:
RCV000489475
dbSNP Id:
rs1085307799
gnomAD v2:
13-111114682-G-A
gnomAD v4:
13-110462335-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110462335G>A , CM000675.2:g.110462335G>A | GRCh38 |
| NC_000013.10:g.111114682G>A , CM000675.1:g.111114682G>A | GRCh37 |
| NC_000013.9:g.109912683G>A | NCBI36 |
| NG_032137.1:g.160052G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.1727G>A (COL4A2) MANE Select | ENSP00000353654.5:p.Ser576Asn | |
| ENST00000360467.5:c.1727G>A (COL4A2) | ENSP00000353654.5:p.Ser576Asn | |
| ENST00000478681.1:n.223G>A (COL4A2) | ||
| NM_001846.2:c.1727G>A (COL4A2) | NP_001837.2:p.Ser576Asn | |
| XR_158875.3:n.619+688C>T (COL4A2-AS2) | ||
| NM_001267044.1:c.72+688C>T (COL4A2-AS2) | NP_001253973.1:n.72+688C>T | |
| NM_001846.3:c.1727G>A (COL4A2) | NP_001837.2:p.Ser576Asn | |
| NM_001846.4:c.1727G>A (COL4A2) MANE Select | NP_001837.2:p.Ser576Asn | |
| NR_171022.1:n.265+688C>T (COL4A2-AS2) |