Linked Data
ClinVar Variation Id:
2144969
ClinVar RCV Id:
RCV003064791
dbSNP Id:
rs778766766
ExAC:
3:184073513 G / A
gnomAD v2:
3-184073513-G-A
gnomAD v3:
3-184355725-G-A
gnomAD v4:
3-184355725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184355725G>A , CM000665.2:g.184355725G>A | GRCh38 |
| NC_000003.11:g.184073513G>A , CM000665.1:g.184073513G>A | GRCh37 |
| NC_000003.10:g.185556207G>A | NCBI36 |
| NG_016422.1:g.10879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265593.9:c.1139C>T (CLCN2) MANE Select | ENSP00000265593.4:p.Pro380Leu | |
| ENST00000475279.2:c.521C>T (CLCN2) | ||
| ENST00000636180.1:c.*115C>T (CLCN2) | ENSP00000490374.1:n.*115C>T | |
| ENST00000636241.1:c.1030C>T (CLCN2) | ||
| ENST00000636492.1:c.1022C>T (CLCN2) | ENSP00000490313.1:p.Pro341Leu | |
| ENST00000636658.1:c.400C>T (CLCN2) | ||
| ENST00000636661.1:c.*1329C>T (CLCN2) | ENSP00000490764.1:n.*1329C>T | |
| ENST00000637392.1:n.2251C>T (CLCN2) | ||
| ENST00000637538.1:c.445C>T (CLCN2) | ||
| ENST00000637909.1:c.945C>T (CLCN2) | ||
| ENST00000638134.1:c.947C>T (CLCN2) | ||
| ENST00000265593.8:c.1139C>T (CLCN2) | ENSP00000265593.4:p.Pro380Leu | |
| ENST00000344937.11:c.1139C>T (CLCN2) | ENSP00000345056.7:p.Pro380Leu | |
| ENST00000430397.5:c.82C>T (CLCN2) | ||
| ENST00000434054.6:c.1007C>T (CLCN2) | ENSP00000400425.2:p.Pro336Leu | |
| ENST00000444495.1:c.2106+211018G>A (EIF2B5) | ENSP00000409142.1:n.2106+211018G>A | |
| ENST00000457512.1:c.1139C>T (CLCN2) | ENSP00000391928.1:p.Pro380Leu | |
| ENST00000475279.1:n.157C>T (CLCN2) | ||
| ENST00000485667.1:n.1146C>T (CLCN2) | ||
| NM_001171087.2:c.1139C>T (CLCN2) | NP_001164558.1:p.Pro380Leu | |
| NM_001171088.2:c.1007C>T (CLCN2) | NP_001164559.1:p.Pro336Leu | |
| NM_001171089.2:c.1139C>T (CLCN2) | NP_001164560.1:p.Pro380Leu | |
| NM_004366.5:c.1139C>T (CLCN2) | NP_004357.3:p.Pro380Leu | |
| XM_006713489.1:c.1139C>T (CLCN2) | XP_006713552.1:p.Pro380Leu | |
| XM_006713490.1:c.-20C>T (CLCN2) | XP_006713553.1:n.-20C>T | |
| XM_011512401.1:c.1139C>T (CLCN2) | XP_011510703.1:p.Pro380Leu | |
| XM_011512402.1:c.1139C>T (CLCN2) | XP_011510704.1:p.Pro380Leu | |
| XM_006713490.2:c.-20C>T (CLCN2) | XP_006713553.1:n.-20C>T | |
| XR_001740001.1:n.1263C>T (CLCN2) | ||
| XR_001740002.1:n.1263C>T (CLCN2) | ||
| NM_004366.6:c.1139C>T (CLCN2) MANE Select | NP_004357.3:p.Pro380Leu | |
| NM_001171087.3:c.1139C>T (CLCN2) | NP_001164558.1:p.Pro380Leu | |
| NM_001171088.3:c.1007C>T (CLCN2) | NP_001164559.1:p.Pro336Leu | |
| NM_001171089.3:c.1139C>T (CLCN2) | NP_001164560.1:p.Pro380Leu |