Linked Data
ClinVar Variation Id:
217789
ClinVar RCV Id:
RCV000201817
dbSNP Id:
rs863225253
PubMed:
PMID:26539602
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184355396del , CM000665.2:g.184355396del | GRCh38 |
| NC_000003.11:g.184073184del , CM000665.1:g.184073184del | GRCh37 |
| NC_000003.10:g.185555878del | NCBI36 |
| NG_016422.1:g.11208del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265593.9:c.1304del (CLCN2) MANE Select | ENSP00000265593.4:p.Leu435ArgfsTer7 | |
| ENST00000475279.2:c.686del (CLCN2) | ||
| ENST00000636180.1:c.*280del (CLCN2) | ENSP00000490374.1:n.*280del | |
| ENST00000636241.1:c.1195del (CLCN2) | ||
| ENST00000636492.1:c.1187del (CLCN2) | ENSP00000490313.1:p.Leu396ArgfsTer7 | |
| ENST00000636658.1:c.565del (CLCN2) | ||
| ENST00000636661.1:c.*1494del (CLCN2) | ENSP00000490764.1:n.*1494del | |
| ENST00000637392.1:n.2580del (CLCN2) | ||
| ENST00000637538.1:c.610del (CLCN2) | ||
| ENST00000637909.1:c.1110del (CLCN2) | ||
| ENST00000638134.1:c.1112del (CLCN2) | ||
| ENST00000265593.8:c.1304del (CLCN2) | ENSP00000265593.4:p.Leu435ArgfsTer7 | |
| ENST00000344937.11:c.1304del (CLCN2) | ENSP00000345056.7:p.Leu435ArgfsTer7 | |
| ENST00000430397.5:c.247del (CLCN2) | ||
| ENST00000434054.6:c.1172del (CLCN2) | ENSP00000400425.2:p.Leu391ArgfsTer7 | |
| ENST00000444495.1:c.2106+210689del (EIF2B5) | ENSP00000409142.1:n.2106+210689del | |
| ENST00000457512.1:c.1304del (CLCN2) | ENSP00000391928.1:p.Leu435ArgfsTer7 | |
| ENST00000485667.1:n.1311del (CLCN2) | ||
| NM_001171087.2:c.1304del (CLCN2) | NP_001164558.1:p.Leu435ArgfsTer7 | |
| NM_001171088.2:c.1172del (CLCN2) | NP_001164559.1:p.Leu391ArgfsTer7 | |
| NM_001171089.2:c.1304del (CLCN2) | NP_001164560.1:p.Leu435ArgfsTer7 | |
| NM_004366.5:c.1304del (CLCN2) | NP_004357.3:p.Leu435ArgfsTer7 | |
| XM_006713489.1:c.1304del (CLCN2) | XP_006713552.1:p.Leu435ArgfsTer7 | |
| XM_006713490.1:c.146del (CLCN2) | XP_006713553.1:p.Leu49ArgfsTer7 | |
| XM_011512401.1:c.1304del (CLCN2) | XP_011510703.1:p.Leu435ArgfsTer7 | |
| XM_011512402.1:c.1304del (CLCN2) | XP_011510704.1:p.Leu435ArgfsTer7 | |
| XM_006713490.2:c.146del (CLCN2) | XP_006713553.1:p.Leu49ArgfsTer7 | |
| XR_001740001.1:n.1428del (CLCN2) | ||
| XR_001740002.1:n.1428del (CLCN2) | ||
| NM_004366.6:c.1304del (CLCN2) MANE Select | NP_004357.3:p.Leu435ArgfsTer7 | |
| NM_001171087.3:c.1304del (CLCN2) | NP_001164558.1:p.Leu435ArgfsTer7 | |
| NM_001171088.3:c.1172del (CLCN2) | NP_001164559.1:p.Leu391ArgfsTer7 | |
| NM_001171089.3:c.1304del (CLCN2) | NP_001164560.1:p.Leu435ArgfsTer7 |