ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003587 (SAS)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00003765 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66262976C>T , CM000673.2:g.66262976C>T | GRCh38 |
| NC_000011.9:g.66030447C>T , CM000673.1:g.66030447C>T | GRCh37 |
| NC_000011.8:g.65787023C>T | NCBI36 |
| NG_046774.1:g.10683C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394067.7:c.692C>T (KLC2) MANE Select | ENSP00000377631.2:p.Thr231Met | |
| ENST00000316924.9:c.692C>T (KLC2) | ENSP00000314837.5:p.Thr231Met | |
| ENST00000394065.2:c.275C>T (KLC2) | ENSP00000377629.2:p.Thr92Met | |
| ENST00000394066.6:c.461C>T (KLC2) | ENSP00000377630.2:p.Thr154Met | |
| ENST00000394067.6:c.692C>T (KLC2) | ENSP00000377631.2:p.Thr231Met | |
| ENST00000394078.5:c.692C>T (KLC2) | ENSP00000377641.1:p.Thr231Met | |
| ENST00000417856.5:c.692C>T (KLC2) | ENSP00000399403.1:p.Thr231Met | |
| ENST00000421552.5:c.461C>T (KLC2) | ENSP00000408484.1:p.Thr154Met | |
| ENST00000461611.5:c.461C>T (KLC2) | ENSP00000434538.1:p.Thr154Met | |
| ENST00000534023.1:n.276C>T (KLC2) | ||
| NM_001134774.1:c.461C>T (KLC2) | NP_001128246.1:p.Thr154Met | |
| NM_001134775.1:c.692C>T (KLC2) | NP_001128247.1:p.Thr231Met | |
| NM_001134776.1:c.692C>T (KLC2) | NP_001128248.1:p.Thr231Met | |
| NM_022822.2:c.692C>T (KLC2) | NP_073733.1:p.Thr231Met | |
| XM_005274182.1:c.692C>T (KLC2) | XP_005274239.1:p.Thr231Met | |
| XM_005274183.1:c.692C>T (KLC2) | XP_005274240.1:p.Thr231Met | |
| XM_005274184.1:c.692C>T (KLC2) | XP_005274241.1:p.Thr231Met | |
| XM_006718665.1:c.692C>T (KLC2) | XP_006718728.1:p.Thr231Met | |
| XR_950215.1:n.742+715G>A (KLC2-AS1) | ||
| XR_950216.1:n.759+715G>A (KLC2-AS1) | ||
| XR_950217.1:n.761+715G>A (KLC2-AS1) | ||
| NM_001318734.1:c.692C>T (KLC2) | NP_001305663.1:p.Thr231Met | |
| XM_017018133.1:c.-432C>T (KLC2) | XP_016873622.1:n.-432C>T | |
| XM_024448657.1:c.692C>T (KLC2) | XP_024304425.1:p.Thr231Met | |
| XR_001748271.2:n.732+715G>A (KLC2-AS1) | ||
| XR_001748272.1:n.732+715G>A (KLC2-AS1) | ||
| XR_001748273.1:n.732+715G>A (KLC2-AS1) | ||
| XR_950215.2:n.732+715G>A (KLC2-AS1) | ||
| XR_950216.2:n.759+715G>A (KLC2-AS1) | ||
| XR_950217.2:n.761+715G>A (KLC2-AS1) | ||
| NM_001134776.2:c.692C>T (KLC2) | NP_001128248.1:p.Thr231Met | |
| NM_001318734.2:c.692C>T (KLC2) MANE Select | NP_001305663.1:p.Thr231Met | |
| NM_022822.3:c.692C>T (KLC2) | NP_073733.1:p.Thr231Met | |
| NM_001134774.2:c.461C>T (KLC2) | NP_001128246.1:p.Thr154Met | |
| NM_001134775.2:c.692C>T (KLC2) | NP_001128247.1:p.Thr231Met |