Linked Data
ClinVar Variation Id:
1442624
dbSNP Id:
rs376497260
ExAC:
3:184073274 G / A
gnomAD v2:
3-184073274-G-A
gnomAD v3:
3-184355486-G-A
gnomAD v4:
3-184355486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184355486G>A , CM000665.2:g.184355486G>A | GRCh38 |
| NC_000003.11:g.184073274G>A , CM000665.1:g.184073274G>A | GRCh37 |
| NC_000003.10:g.185555968G>A | NCBI36 |
| NG_016422.1:g.11118C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265593.9:c.1214C>T (CLCN2) MANE Select | ENSP00000265593.4:p.Thr405Met | |
| ENST00000475279.2:c.596C>T (CLCN2) | ||
| ENST00000636180.1:c.*190C>T (CLCN2) | ENSP00000490374.1:n.*190C>T | |
| ENST00000636241.1:c.1105C>T (CLCN2) | ||
| ENST00000636492.1:c.1097C>T (CLCN2) | ENSP00000490313.1:p.Thr366Met | |
| ENST00000636658.1:c.475C>T (CLCN2) | ||
| ENST00000636661.1:c.*1404C>T (CLCN2) | ENSP00000490764.1:n.*1404C>T | |
| ENST00000637392.1:n.2490C>T (CLCN2) | ||
| ENST00000637538.1:c.520C>T (CLCN2) | ||
| ENST00000637909.1:c.1020C>T (CLCN2) | ||
| ENST00000638134.1:c.1022C>T (CLCN2) | ||
| ENST00000265593.8:c.1214C>T (CLCN2) | ENSP00000265593.4:p.Thr405Met | |
| ENST00000344937.11:c.1214C>T (CLCN2) | ENSP00000345056.7:p.Thr405Met | |
| ENST00000430397.5:c.157C>T (CLCN2) | ||
| ENST00000434054.6:c.1082C>T (CLCN2) | ENSP00000400425.2:p.Thr361Met | |
| ENST00000444495.1:c.2106+210779G>A (EIF2B5) | ENSP00000409142.1:n.2106+210779G>A | |
| ENST00000457512.1:c.1214C>T (CLCN2) | ENSP00000391928.1:p.Thr405Met | |
| ENST00000475279.1:n.232C>T (CLCN2) | ||
| ENST00000485667.1:n.1221C>T (CLCN2) | ||
| NM_001171087.2:c.1214C>T (CLCN2) | NP_001164558.1:p.Thr405Met | |
| NM_001171088.2:c.1082C>T (CLCN2) | NP_001164559.1:p.Thr361Met | |
| NM_001171089.2:c.1214C>T (CLCN2) | NP_001164560.1:p.Thr405Met | |
| NM_004366.5:c.1214C>T (CLCN2) | NP_004357.3:p.Thr405Met | |
| XM_006713489.1:c.1214C>T (CLCN2) | XP_006713552.1:p.Thr405Met | |
| XM_006713490.1:c.56C>T (CLCN2) | XP_006713553.1:p.Thr19Met | |
| XM_011512401.1:c.1214C>T (CLCN2) | XP_011510703.1:p.Thr405Met | |
| XM_011512402.1:c.1214C>T (CLCN2) | XP_011510704.1:p.Thr405Met | |
| XM_006713490.2:c.56C>T (CLCN2) | XP_006713553.1:p.Thr19Met | |
| XR_001740001.1:n.1338C>T (CLCN2) | ||
| XR_001740002.1:n.1338C>T (CLCN2) | ||
| NM_004366.6:c.1214C>T (CLCN2) MANE Select | NP_004357.3:p.Thr405Met | |
| NM_001171087.3:c.1214C>T (CLCN2) | NP_001164558.1:p.Thr405Met | |
| NM_001171088.3:c.1082C>T (CLCN2) | NP_001164559.1:p.Thr361Met | |
| NM_001171089.3:c.1214C>T (CLCN2) | NP_001164560.1:p.Thr405Met |