Linked Data
ClinVar Variation Id:
2079351
ClinVar RCV Id:
RCV002995309
dbSNP Id:
rs200541466
ExAC:
3:184073273 C / T
gnomAD v2:
3-184073273-C-T
gnomAD v3:
3-184355485-C-T
gnomAD v4:
3-184355485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184355485C>T , CM000665.2:g.184355485C>T | GRCh38 |
| NC_000003.11:g.184073273C>T , CM000665.1:g.184073273C>T | GRCh37 |
| NC_000003.10:g.185555967C>T | NCBI36 |
| NG_016422.1:g.11119G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265593.9:c.1215G>A (CLCN2) MANE Select | ENSP00000265593.4:p.Thr405= | |
| ENST00000475279.2:c.597G>A (CLCN2) | ||
| ENST00000636180.1:c.*191G>A (CLCN2) | ENSP00000490374.1:n.*191G>A | |
| ENST00000636241.1:c.1106G>A (CLCN2) | ||
| ENST00000636492.1:c.1098G>A (CLCN2) | ENSP00000490313.1:p.Thr366= | |
| ENST00000636658.1:c.476G>A (CLCN2) | ||
| ENST00000636661.1:c.*1405G>A (CLCN2) | ENSP00000490764.1:n.*1405G>A | |
| ENST00000637392.1:n.2491G>A (CLCN2) | ||
| ENST00000637538.1:c.521G>A (CLCN2) | ||
| ENST00000637909.1:c.1021G>A (CLCN2) | ||
| ENST00000638134.1:c.1023G>A (CLCN2) | ||
| ENST00000265593.8:c.1215G>A (CLCN2) | ENSP00000265593.4:p.Thr405= | |
| ENST00000344937.11:c.1215G>A (CLCN2) | ENSP00000345056.7:p.Thr405= | |
| ENST00000430397.5:c.158G>A (CLCN2) | ||
| ENST00000434054.6:c.1083G>A (CLCN2) | ENSP00000400425.2:p.Thr361= | |
| ENST00000444495.1:c.2106+210778C>T (EIF2B5) | ENSP00000409142.1:n.2106+210778C>T | |
| ENST00000457512.1:c.1215G>A (CLCN2) | ENSP00000391928.1:p.Thr405= | |
| ENST00000475279.1:n.233G>A (CLCN2) | ||
| ENST00000485667.1:n.1222G>A (CLCN2) | ||
| NM_001171087.2:c.1215G>A (CLCN2) | NP_001164558.1:p.Thr405= | |
| NM_001171088.2:c.1083G>A (CLCN2) | NP_001164559.1:p.Thr361= | |
| NM_001171089.2:c.1215G>A (CLCN2) | NP_001164560.1:p.Thr405= | |
| NM_004366.5:c.1215G>A (CLCN2) | NP_004357.3:p.Thr405= | |
| XM_006713489.1:c.1215G>A (CLCN2) | XP_006713552.1:p.Thr405= | |
| XM_006713490.1:c.57G>A (CLCN2) | XP_006713553.1:p.Thr19= | |
| XM_011512401.1:c.1215G>A (CLCN2) | XP_011510703.1:p.Thr405= | |
| XM_011512402.1:c.1215G>A (CLCN2) | XP_011510704.1:p.Thr405= | |
| XM_006713490.2:c.57G>A (CLCN2) | XP_006713553.1:p.Thr19= | |
| XR_001740001.1:n.1339G>A (CLCN2) | ||
| XR_001740002.1:n.1339G>A (CLCN2) | ||
| NM_004366.6:c.1215G>A (CLCN2) MANE Select | NP_004357.3:p.Thr405= | |
| NM_001171087.3:c.1215G>A (CLCN2) | NP_001164558.1:p.Thr405= | |
| NM_001171088.3:c.1083G>A (CLCN2) | NP_001164559.1:p.Thr361= | |
| NM_001171089.3:c.1215G>A (CLCN2) | NP_001164560.1:p.Thr405= |