Linked Data
ClinVar Variation Id:
1275359
ClinVar RCV Id:
RCV001679598
dbSNP Id:
rs202232558
gnomAD v2:
X-106171270-A-AT
gnomAD v3:
X-106928040-A-AT
gnomAD v4:
X-106928040-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106928048dup , CM000685.2:g.106928048dup | GRCh38 |
| NC_000023.10:g.106171278dup , CM000685.1:g.106171278dup | GRCh37 |
| NC_000023.9:g.106057934dup | NCBI36 |
| NG_016445.1:g.32885dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336803.2:c.-178-3dup (CLDN2) MANE Select | ENSP00000336571.1:n.-178-3dup | |
| ENST00000541806.6:c.-178-3dup (CLDN2) | ENSP00000441283.1:n.-178-3dup | |
| ENST00000336803.1:c.-178-3dup (CLDN2) | ENSP00000336571.1:n.-178-3dup | |
| ENST00000540876.1:c.-178-3dup (CLDN2) | ENSP00000443230.1:n.-178-3dup | |
| ENST00000541806.5:c.-178-3dup (CLDN2) | ENSP00000441283.1:n.-178-3dup | |
| ENST00000604604.1:c.111+65189dup (MORC4) | ||
| NM_001171092.1:c.-178-3dup (CLDN2) | NP_001164563.1:n.-178-3dup | |
| NM_001171095.1:c.-178-3dup (CLDN2) | NP_001164566.1:n.-178-3dup | |
| NM_020384.3:c.-178-3dup (CLDN2) | NP_065117.1:n.-178-3dup | |
| NM_020384.4:c.-178-3dup (CLDN2) MANE Select | NP_065117.1:n.-178-3dup | |
| NM_001171095.2:c.-178-3dup (CLDN2) | NP_001164566.1:n.-178-3dup |