Linked Data
dbSNP Id:
rs757468720
ExAC:
3:184073182 C / T
gnomAD v2:
3-184073182-C-T
gnomAD v4:
3-184355394-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184355394C>T , CM000665.2:g.184355394C>T | GRCh38 |
| NC_000003.11:g.184073182C>T , CM000665.1:g.184073182C>T | GRCh37 |
| NC_000003.10:g.185555876C>T | NCBI36 |
| NG_016422.1:g.11210G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265593.9:c.1306G>A (CLCN2) MANE Select | ENSP00000265593.4:p.Val436Ile | |
| ENST00000475279.2:c.688G>A (CLCN2) | ||
| ENST00000636180.1:c.*282G>A (CLCN2) | ENSP00000490374.1:n.*282G>A | |
| ENST00000636241.1:c.1197G>A (CLCN2) | ||
| ENST00000636492.1:c.1189G>A (CLCN2) | ENSP00000490313.1:p.Val397Ile | |
| ENST00000636658.1:c.567G>A (CLCN2) | ||
| ENST00000636661.1:c.*1496G>A (CLCN2) | ENSP00000490764.1:n.*1496G>A | |
| ENST00000637392.1:n.2582G>A (CLCN2) | ||
| ENST00000637538.1:c.612G>A (CLCN2) | ||
| ENST00000637909.1:c.1112G>A (CLCN2) | ||
| ENST00000638134.1:c.1114G>A (CLCN2) | ||
| ENST00000265593.8:c.1306G>A (CLCN2) | ENSP00000265593.4:p.Val436Ile | |
| ENST00000344937.11:c.1306G>A (CLCN2) | ENSP00000345056.7:p.Val436Ile | |
| ENST00000430397.5:c.249G>A (CLCN2) | ||
| ENST00000434054.6:c.1174G>A (CLCN2) | ENSP00000400425.2:p.Val392Ile | |
| ENST00000444495.1:c.2106+210687C>T (EIF2B5) | ENSP00000409142.1:n.2106+210687C>T | |
| ENST00000457512.1:c.1306G>A (CLCN2) | ENSP00000391928.1:p.Val436Ile | |
| ENST00000485667.1:n.1313G>A (CLCN2) | ||
| NM_001171087.2:c.1306G>A (CLCN2) | NP_001164558.1:p.Val436Ile | |
| NM_001171088.2:c.1174G>A (CLCN2) | NP_001164559.1:p.Val392Ile | |
| NM_001171089.2:c.1306G>A (CLCN2) | NP_001164560.1:p.Val436Ile | |
| NM_004366.5:c.1306G>A (CLCN2) | NP_004357.3:p.Val436Ile | |
| XM_006713489.1:c.1306G>A (CLCN2) | XP_006713552.1:p.Val436Ile | |
| XM_006713490.1:c.148G>A (CLCN2) | XP_006713553.1:p.Val50Ile | |
| XM_011512401.1:c.1306G>A (CLCN2) | XP_011510703.1:p.Val436Ile | |
| XM_011512402.1:c.1306G>A (CLCN2) | XP_011510704.1:p.Val436Ile | |
| XM_006713490.2:c.148G>A (CLCN2) | XP_006713553.1:p.Val50Ile | |
| XR_001740001.1:n.1430G>A (CLCN2) | ||
| XR_001740002.1:n.1430G>A (CLCN2) | ||
| NM_004366.6:c.1306G>A (CLCN2) MANE Select | NP_004357.3:p.Val436Ile | |
| NM_001171087.3:c.1306G>A (CLCN2) | NP_001164558.1:p.Val436Ile | |
| NM_001171088.3:c.1174G>A (CLCN2) | NP_001164559.1:p.Val392Ile | |
| NM_001171089.3:c.1306G>A (CLCN2) | NP_001164560.1:p.Val436Ile |