Linked Data
ClinVar Variation Id:
1335551
dbSNP Id:
rs368782176
ExAC:
3:184064726 C / T
gnomAD v2:
3-184064726-C-T
gnomAD v3:
3-184346938-C-T
gnomAD v4:
3-184346938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184346938C>T , CM000665.2:g.184346938C>T | GRCh38 |
| NC_000003.11:g.184064726C>T , CM000665.1:g.184064726C>T | GRCh37 |
| NC_000003.10:g.185547420C>T | NCBI36 |
| NG_016422.1:g.19666G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265593.9:c.2499G>A (CLCN2) MANE Select | ENSP00000265593.4:p.Lys833= | |
| ENST00000636180.1:c.*1397G>A (CLCN2) | ENSP00000490374.1:n.*1397G>A | |
| ENST00000636661.1:c.*2809G>A (CLCN2) | ENSP00000490764.1:n.*2809G>A | |
| ENST00000636830.1:n.2629G>A (CLCN2) | ||
| ENST00000637392.1:n.4041G>A (CLCN2) | ||
| ENST00000637909.1:c.2305G>A (CLCN2) | ||
| ENST00000639617.1:c.*1461C>T (FAM131A) | ENSP00000491845.1:n.*1461C>T | |
| ENST00000265593.8:c.2499G>A (CLCN2) | ENSP00000265593.4:p.Lys833= | |
| ENST00000344937.11:c.2448G>A (CLCN2) | ENSP00000345056.7:p.Lys816= | |
| ENST00000430397.5:c.1261G>A (CLCN2) | ||
| ENST00000434054.6:c.2367G>A (CLCN2) | ENSP00000400425.2:p.Lys789= | |
| ENST00000444495.1:c.2106+202231C>T (EIF2B5) | ENSP00000409142.1:n.2106+202231C>T | |
| ENST00000457512.1:c.2416-138G>A (CLCN2) | ENSP00000391928.1:n.2416-138G>A | |
| NM_001171087.2:c.2448G>A (CLCN2) | NP_001164558.1:p.Lys816= | |
| NM_001171088.2:c.2367G>A (CLCN2) | NP_001164559.1:p.Lys789= | |
| NM_001171089.2:c.2416-138G>A (CLCN2) | NP_001164560.1:n.2416-138G>A | |
| NM_004366.5:c.2499G>A (CLCN2) | NP_004357.3:p.Lys833= | |
| XM_006713489.1:c.2394G>A (CLCN2) | XP_006713552.1:p.Lys798= | |
| XM_006713490.1:c.1341G>A (CLCN2) | XP_006713553.1:p.Lys447= | |
| XM_006713490.2:c.1341G>A (CLCN2) | XP_006713553.1:p.Lys447= | |
| XR_001740001.1:n.2679G>A (CLCN2) | ||
| XR_001740002.1:n.2574G>A (CLCN2) | ||
| NM_004366.6:c.2499G>A (CLCN2) MANE Select | NP_004357.3:p.Lys833= | |
| NM_001171087.3:c.2448G>A (CLCN2) | NP_001164558.1:p.Lys816= | |
| NM_001171088.3:c.2367G>A (CLCN2) | NP_001164559.1:p.Lys789= | |
| NM_001171089.3:c.2416-138G>A (CLCN2) | NP_001164560.1:n.2416-138G>A |