Linked Data
ClinVar Variation Id:
2176600
ClinVar RCV Id:
RCV002582469
dbSNP Id:
rs150052320
ExAC:
11:66029387 C / G
gnomAD v2:
11-66029387-C-G
gnomAD v3:
11-66261916-C-G
gnomAD v4:
11-66261916-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66261916C>G , CM000673.2:g.66261916C>G | GRCh38 |
| NC_000011.9:g.66029387C>G , CM000673.1:g.66029387C>G | GRCh37 |
| NC_000011.8:g.65785963C>G | NCBI36 |
| NG_046774.1:g.9623C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394067.7:c.403C>G (KLC2) MANE Select | ENSP00000377631.2:p.Gln135Glu | |
| ENST00000316924.9:c.403C>G (KLC2) | ENSP00000314837.5:p.Gln135Glu | |
| ENST00000394065.2:c.-15C>G (KLC2) | ENSP00000377629.2:n.-15C>G | |
| ENST00000394066.6:c.229-207C>G (KLC2) | ENSP00000377630.2:n.229-207C>G | |
| ENST00000394067.6:c.403C>G (KLC2) | ENSP00000377631.2:p.Gln135Glu | |
| ENST00000394078.5:c.403C>G (KLC2) | ENSP00000377641.1:p.Gln135Glu | |
| ENST00000417856.5:c.403C>G (KLC2) | ENSP00000399403.1:p.Gln135Glu | |
| ENST00000421552.5:c.229-207C>G (KLC2) | ENSP00000408484.1:n.229-207C>G | |
| ENST00000440228.6:c.403C>G (KLC2) | ENSP00000396952.2:p.Gln135Glu | |
| ENST00000461611.5:c.229-207C>G (KLC2) | ENSP00000434538.1:n.229-207C>G | |
| ENST00000475757.2:c.403C>G (KLC2) | ENSP00000431253.1:p.Gln135Glu | |
| ENST00000483152.1:n.81C>G (KLC2) | ||
| ENST00000526758.5:c.403C>G (KLC2) | ENSP00000437026.1:p.Gln135Glu | |
| NM_001134774.1:c.229-207C>G (KLC2) | NP_001128246.1:n.229-207C>G | |
| NM_001134775.1:c.403C>G (KLC2) | NP_001128247.1:p.Gln135Glu | |
| NM_001134776.1:c.403C>G (KLC2) | NP_001128248.1:p.Gln135Glu | |
| NM_022822.2:c.403C>G (KLC2) | NP_073733.1:p.Gln135Glu | |
| XM_005274182.1:c.403C>G (KLC2) | XP_005274239.1:p.Gln135Glu | |
| XM_005274183.1:c.403C>G (KLC2) | XP_005274240.1:p.Gln135Glu | |
| XM_005274184.1:c.403C>G (KLC2) | XP_005274241.1:p.Gln135Glu | |
| XM_006718665.1:c.403C>G (KLC2) | XP_006718728.1:p.Gln135Glu | |
| NM_001318734.1:c.403C>G (KLC2) | NP_001305663.1:p.Gln135Glu | |
| XM_024448657.1:c.403C>G (KLC2) | XP_024304425.1:p.Gln135Glu | |
| XR_001748271.2:n.733-67G>C (KLC2-AS1) | ||
| XR_001748272.1:n.733-67G>C (KLC2-AS1) | ||
| XR_001748273.1:n.733-67G>C (KLC2-AS1) | ||
| XR_950215.2:n.829G>C (KLC2-AS1) | ||
| XR_950216.2:n.856G>C (KLC2-AS1) | ||
| XR_950217.2:n.858G>C (KLC2-AS1) | ||
| NM_001134776.2:c.403C>G (KLC2) | NP_001128248.1:p.Gln135Glu | |
| NM_001318734.2:c.403C>G (KLC2) MANE Select | NP_001305663.1:p.Gln135Glu | |
| NM_022822.3:c.403C>G (KLC2) | NP_073733.1:p.Gln135Glu | |
| NM_001134774.2:c.229-207C>G (KLC2) | NP_001128246.1:n.229-207C>G | |
| NM_001134775.2:c.403C>G (KLC2) | NP_001128247.1:p.Gln135Glu |