Linked Data
ClinVar Variation Id:
2863552
ClinVar RCV Id:
RCV003702342
dbSNP Id:
rs201693341
ExAC:
3:184073186 G / C
gnomAD v2:
3-184073186-G-C
gnomAD v3:
3-184355398-G-C
gnomAD v4:
3-184355398-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184355398G>C , CM000665.2:g.184355398G>C | GRCh38 |
| NC_000003.11:g.184073186G>C , CM000665.1:g.184073186G>C | GRCh37 |
| NC_000003.10:g.185555880G>C | NCBI36 |
| NG_016422.1:g.11206C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265593.9:c.1302C>G (CLCN2) MANE Select | ENSP00000265593.4:p.Thr434= | |
| ENST00000475279.2:c.684C>G (CLCN2) | ||
| ENST00000636180.1:c.*278C>G (CLCN2) | ENSP00000490374.1:n.*278C>G | |
| ENST00000636241.1:c.1193C>G (CLCN2) | ||
| ENST00000636492.1:c.1185C>G (CLCN2) | ENSP00000490313.1:p.Thr395= | |
| ENST00000636658.1:c.563C>G (CLCN2) | ||
| ENST00000636661.1:c.*1492C>G (CLCN2) | ENSP00000490764.1:n.*1492C>G | |
| ENST00000637392.1:n.2578C>G (CLCN2) | ||
| ENST00000637538.1:c.608C>G (CLCN2) | ||
| ENST00000637909.1:c.1108C>G (CLCN2) | ||
| ENST00000638134.1:c.1110C>G (CLCN2) | ||
| ENST00000265593.8:c.1302C>G (CLCN2) | ENSP00000265593.4:p.Thr434= | |
| ENST00000344937.11:c.1302C>G (CLCN2) | ENSP00000345056.7:p.Thr434= | |
| ENST00000430397.5:c.245C>G (CLCN2) | ||
| ENST00000434054.6:c.1170C>G (CLCN2) | ENSP00000400425.2:p.Thr390= | |
| ENST00000444495.1:c.2106+210691G>C (EIF2B5) | ENSP00000409142.1:n.2106+210691G>C | |
| ENST00000457512.1:c.1302C>G (CLCN2) | ENSP00000391928.1:p.Thr434= | |
| ENST00000485667.1:n.1309C>G (CLCN2) | ||
| NM_001171087.2:c.1302C>G (CLCN2) | NP_001164558.1:p.Thr434= | |
| NM_001171088.2:c.1170C>G (CLCN2) | NP_001164559.1:p.Thr390= | |
| NM_001171089.2:c.1302C>G (CLCN2) | NP_001164560.1:p.Thr434= | |
| NM_004366.5:c.1302C>G (CLCN2) | NP_004357.3:p.Thr434= | |
| XM_006713489.1:c.1302C>G (CLCN2) | XP_006713552.1:p.Thr434= | |
| XM_006713490.1:c.144C>G (CLCN2) | XP_006713553.1:p.Thr48= | |
| XM_011512401.1:c.1302C>G (CLCN2) | XP_011510703.1:p.Thr434= | |
| XM_011512402.1:c.1302C>G (CLCN2) | XP_011510704.1:p.Thr434= | |
| XM_006713490.2:c.144C>G (CLCN2) | XP_006713553.1:p.Thr48= | |
| XR_001740001.1:n.1426C>G (CLCN2) | ||
| XR_001740002.1:n.1426C>G (CLCN2) | ||
| NM_004366.6:c.1302C>G (CLCN2) MANE Select | NP_004357.3:p.Thr434= | |
| NM_001171087.3:c.1302C>G (CLCN2) | NP_001164558.1:p.Thr434= | |
| NM_001171088.3:c.1170C>G (CLCN2) | NP_001164559.1:p.Thr390= | |
| NM_001171089.3:c.1302C>G (CLCN2) | NP_001164560.1:p.Thr434= |