Linked Data
ClinVar Variation Id:
3145398
ClinVar RCV Id:
RCV004444239
dbSNP Id:
rs763673290
ExAC:
3:184073510 G / C
gnomAD v2:
3-184073510-G-C
gnomAD v3:
3-184355722-G-C
gnomAD v4:
3-184355722-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184355722G>C , CM000665.2:g.184355722G>C | GRCh38 |
| NC_000003.11:g.184073510G>C , CM000665.1:g.184073510G>C | GRCh37 |
| NC_000003.10:g.185556204G>C | NCBI36 |
| NG_016422.1:g.10882C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265593.9:c.1142C>G (CLCN2) MANE Select | ENSP00000265593.4:p.Pro381Arg | |
| ENST00000475279.2:c.524C>G (CLCN2) | ||
| ENST00000636180.1:c.*118C>G (CLCN2) | ENSP00000490374.1:n.*118C>G | |
| ENST00000636241.1:c.1033C>G (CLCN2) | ||
| ENST00000636492.1:c.1025C>G (CLCN2) | ENSP00000490313.1:p.Pro342Arg | |
| ENST00000636658.1:c.403C>G (CLCN2) | ||
| ENST00000636661.1:c.*1332C>G (CLCN2) | ENSP00000490764.1:n.*1332C>G | |
| ENST00000637392.1:n.2254C>G (CLCN2) | ||
| ENST00000637538.1:c.448C>G (CLCN2) | ||
| ENST00000637909.1:c.948C>G (CLCN2) | ||
| ENST00000638134.1:c.950C>G (CLCN2) | ||
| ENST00000265593.8:c.1142C>G (CLCN2) | ENSP00000265593.4:p.Pro381Arg | |
| ENST00000344937.11:c.1142C>G (CLCN2) | ENSP00000345056.7:p.Pro381Arg | |
| ENST00000430397.5:c.85C>G (CLCN2) | ||
| ENST00000434054.6:c.1010C>G (CLCN2) | ENSP00000400425.2:p.Pro337Arg | |
| ENST00000444495.1:c.2106+211015G>C (EIF2B5) | ENSP00000409142.1:n.2106+211015G>C | |
| ENST00000457512.1:c.1142C>G (CLCN2) | ENSP00000391928.1:p.Pro381Arg | |
| ENST00000475279.1:n.160C>G (CLCN2) | ||
| ENST00000485667.1:n.1149C>G (CLCN2) | ||
| NM_001171087.2:c.1142C>G (CLCN2) | NP_001164558.1:p.Pro381Arg | |
| NM_001171088.2:c.1010C>G (CLCN2) | NP_001164559.1:p.Pro337Arg | |
| NM_001171089.2:c.1142C>G (CLCN2) | NP_001164560.1:p.Pro381Arg | |
| NM_004366.5:c.1142C>G (CLCN2) | NP_004357.3:p.Pro381Arg | |
| XM_006713489.1:c.1142C>G (CLCN2) | XP_006713552.1:p.Pro381Arg | |
| XM_006713490.1:c.-17C>G (CLCN2) | XP_006713553.1:n.-17C>G | |
| XM_011512401.1:c.1142C>G (CLCN2) | XP_011510703.1:p.Pro381Arg | |
| XM_011512402.1:c.1142C>G (CLCN2) | XP_011510704.1:p.Pro381Arg | |
| XM_006713490.2:c.-17C>G (CLCN2) | XP_006713553.1:n.-17C>G | |
| XR_001740001.1:n.1266C>G (CLCN2) | ||
| XR_001740002.1:n.1266C>G (CLCN2) | ||
| NM_004366.6:c.1142C>G (CLCN2) MANE Select | NP_004357.3:p.Pro381Arg | |
| NM_001171087.3:c.1142C>G (CLCN2) | NP_001164558.1:p.Pro381Arg | |
| NM_001171088.3:c.1010C>G (CLCN2) | NP_001164559.1:p.Pro337Arg | |
| NM_001171089.3:c.1142C>G (CLCN2) | NP_001164560.1:p.Pro381Arg |