Linked Data
ClinVar Variation Id:
217795
ClinVar RCV Id:
RCV000201808
dbSNP Id:
rs863225256
gnomAD v2:
3-184071109-T-A
gnomAD v3:
3-184353321-T-A
gnomAD v4:
3-184353321-T-A
PubMed:
PMID:26539602
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184353321T>A , CM000665.2:g.184353321T>A | GRCh38 |
| NC_000003.11:g.184071109T>A , CM000665.1:g.184071109T>A | GRCh37 |
| NC_000003.10:g.185553803T>A | NCBI36 |
| NG_016422.1:g.13283A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265593.9:c.1957A>T (CLCN2) MANE Select | ENSP00000265593.4:p.Arg653Ter | |
| ENST00000636180.1:c.*855A>T (CLCN2) | ENSP00000490374.1:n.*855A>T | |
| ENST00000636661.1:c.*2267A>T (CLCN2) | ENSP00000490764.1:n.*2267A>T | |
| ENST00000637258.1:n.375A>T (CLCN2) | ||
| ENST00000637392.1:n.3499A>T (CLCN2) | ||
| ENST00000637538.1:c.1193A>T (CLCN2) | ||
| ENST00000637909.1:c.1763A>T (CLCN2) | ||
| ENST00000265593.8:c.1957A>T (CLCN2) | ENSP00000265593.4:p.Arg653Ter | |
| ENST00000344937.11:c.1906A>T (CLCN2) | ENSP00000345056.7:p.Arg636Ter | |
| ENST00000430397.5:c.824A>T (CLCN2) | ||
| ENST00000434054.6:c.1825A>T (CLCN2) | ENSP00000400425.2:p.Arg609Ter | |
| ENST00000444495.1:c.2106+208614T>A (EIF2B5) | ENSP00000409142.1:n.2106+208614T>A | |
| ENST00000457512.1:c.1957A>T (CLCN2) | ENSP00000391928.1:p.Arg653Ter | |
| NM_001171087.2:c.1906A>T (CLCN2) | NP_001164558.1:p.Arg636Ter | |
| NM_001171088.2:c.1825A>T (CLCN2) | NP_001164559.1:p.Arg609Ter | |
| NM_001171089.2:c.1957A>T (CLCN2) | NP_001164560.1:p.Arg653Ter | |
| NM_004366.5:c.1957A>T (CLCN2) | NP_004357.3:p.Arg653Ter | |
| XM_006713489.1:c.1957A>T (CLCN2) | XP_006713552.1:p.Arg653Ter | |
| XM_006713490.1:c.799A>T (CLCN2) | XP_006713553.1:p.Arg267Ter | |
| XM_011512401.1:c.1957A>T (CLCN2) | XP_011510703.1:p.Arg653Ter | |
| XM_006713490.2:c.799A>T (CLCN2) | XP_006713553.1:p.Arg267Ter | |
| XR_001740001.1:n.2137A>T (CLCN2) | ||
| XR_001740002.1:n.2137A>T (CLCN2) | ||
| NM_004366.6:c.1957A>T (CLCN2) MANE Select | NP_004357.3:p.Arg653Ter | |
| NM_001171087.3:c.1906A>T (CLCN2) | NP_001164558.1:p.Arg636Ter | |
| NM_001171088.3:c.1825A>T (CLCN2) | NP_001164559.1:p.Arg609Ter | |
| NM_001171089.3:c.1957A>T (CLCN2) | NP_001164560.1:p.Arg653Ter |