Linked Data
ClinVar Variation Id:
217796
dbSNP Id:
rs376823689
ExAC:
3:184069830 G / A
gnomAD v2:
3-184069830-G-A
PubMed:
PMID:26539602
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184352042G>A , CM000665.2:g.184352042G>A | GRCh38 |
| NC_000003.11:g.184069830G>A , CM000665.1:g.184069830G>A | GRCh37 |
| NC_000003.10:g.185552524G>A | NCBI36 |
| NG_016422.1:g.14562C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265593.9:c.2386C>T (CLCN2) MANE Select | ENSP00000265593.4:p.Gln796Ter | |
| ENST00000636180.1:c.*1284C>T (CLCN2) | ENSP00000490374.1:n.*1284C>T | |
| ENST00000636661.1:c.*2696C>T (CLCN2) | ENSP00000490764.1:n.*2696C>T | |
| ENST00000637392.1:n.3928C>T (CLCN2) | ||
| ENST00000637909.1:c.2192C>T (CLCN2) | ||
| ENST00000265593.8:c.2386C>T (CLCN2) | ENSP00000265593.4:p.Gln796Ter | |
| ENST00000344937.11:c.2335C>T (CLCN2) | ENSP00000345056.7:p.Gln779Ter | |
| ENST00000430397.5:c.1177+251C>T (CLCN2) | ||
| ENST00000434054.6:c.2254C>T (CLCN2) | ENSP00000400425.2:p.Gln752Ter | |
| ENST00000444495.1:c.2106+207335G>A (EIF2B5) | ENSP00000409142.1:n.2106+207335G>A | |
| ENST00000457512.1:c.2386C>T (CLCN2) | ENSP00000391928.1:p.Gln796Ter | |
| NM_001171087.2:c.2335C>T (CLCN2) | NP_001164558.1:p.Gln779Ter | |
| NM_001171088.2:c.2254C>T (CLCN2) | NP_001164559.1:p.Gln752Ter | |
| NM_001171089.2:c.2386C>T (CLCN2) | NP_001164560.1:p.Gln796Ter | |
| NM_004366.5:c.2386C>T (CLCN2) | NP_004357.3:p.Gln796Ter | |
| XM_006713489.1:c.2310+251C>T (CLCN2) | XP_006713552.1:n.2310+251C>T | |
| XM_006713490.1:c.1228C>T (CLCN2) | XP_006713553.1:p.Gln410Ter | |
| XM_011512401.1:c.2386C>T (CLCN2) | XP_011510703.1:p.Gln796Ter | |
| XM_006713490.2:c.1228C>T (CLCN2) | XP_006713553.1:p.Gln410Ter | |
| XR_001740001.1:n.2566C>T (CLCN2) | ||
| XR_001740002.1:n.2490+251C>T (CLCN2) | ||
| NM_004366.6:c.2386C>T (CLCN2) MANE Select | NP_004357.3:p.Gln796Ter | |
| NM_001171087.3:c.2335C>T (CLCN2) | NP_001164558.1:p.Gln779Ter | |
| NM_001171088.3:c.2254C>T (CLCN2) | NP_001164559.1:p.Gln752Ter | |
| NM_001171089.3:c.2386C>T (CLCN2) | NP_001164560.1:p.Gln796Ter |