Linked Data
ClinVar Variation Id:
2182894
ClinVar RCV Id:
RCV002592251
dbSNP Id:
rs149131871
ExAC:
11:66029641 C / T
gnomAD v2:
11-66029641-C-T
gnomAD v3:
11-66262170-C-T
gnomAD v4:
11-66262170-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66262170C>T , CM000673.2:g.66262170C>T | GRCh38 |
| NC_000011.9:g.66029641C>T , CM000673.1:g.66029641C>T | GRCh37 |
| NC_000011.8:g.65786217C>T | NCBI36 |
| NG_046774.1:g.9877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394067.7:c.507C>T (KLC2) MANE Select | ENSP00000377631.2:p.Pro169= | |
| ENST00000316924.9:c.507C>T (KLC2) | ENSP00000314837.5:p.Pro169= | |
| ENST00000394065.2:c.90C>T (KLC2) | ENSP00000377629.2:p.Pro30= | |
| ENST00000394066.6:c.276C>T (KLC2) | ENSP00000377630.2:p.Pro92= | |
| ENST00000394067.6:c.507C>T (KLC2) | ENSP00000377631.2:p.Pro169= | |
| ENST00000394078.5:c.507C>T (KLC2) | ENSP00000377641.1:p.Pro169= | |
| ENST00000417856.5:c.507C>T (KLC2) | ENSP00000399403.1:p.Pro169= | |
| ENST00000421552.5:c.276C>T (KLC2) | ENSP00000408484.1:p.Pro92= | |
| ENST00000461611.5:c.276C>T (KLC2) | ENSP00000434538.1:p.Pro92= | |
| ENST00000475757.2:c.507C>T (KLC2) | ENSP00000431253.1:p.Pro169= | |
| ENST00000483152.1:n.185C>T (KLC2) | ||
| ENST00000534023.1:n.91C>T (KLC2) | ||
| NM_001134774.1:c.276C>T (KLC2) | NP_001128246.1:p.Pro92= | |
| NM_001134775.1:c.507C>T (KLC2) | NP_001128247.1:p.Pro169= | |
| NM_001134776.1:c.507C>T (KLC2) | NP_001128248.1:p.Pro169= | |
| NM_022822.2:c.507C>T (KLC2) | NP_073733.1:p.Pro169= | |
| XM_005274182.1:c.507C>T (KLC2) | XP_005274239.1:p.Pro169= | |
| XM_005274183.1:c.507C>T (KLC2) | XP_005274240.1:p.Pro169= | |
| XM_005274184.1:c.507C>T (KLC2) | XP_005274241.1:p.Pro169= | |
| XM_006718665.1:c.507C>T (KLC2) | XP_006718728.1:p.Pro169= | |
| XR_950215.1:n.743-158G>A (KLC2-AS1) | ||
| XR_950216.1:n.760-158G>A (KLC2-AS1) | ||
| XR_950217.1:n.762-158G>A (KLC2-AS1) | ||
| NM_001318734.1:c.507C>T (KLC2) | NP_001305663.1:p.Pro169= | |
| XM_017018133.1:c.-617C>T (KLC2) | XP_016873622.1:n.-617C>T | |
| XM_024448657.1:c.507C>T (KLC2) | XP_024304425.1:p.Pro169= | |
| XR_001748271.2:n.733-321G>A (KLC2-AS1) | ||
| XR_001748272.1:n.733-321G>A (KLC2-AS1) | ||
| XR_001748273.1:n.733-321G>A (KLC2-AS1) | ||
| XR_950215.2:n.733-158G>A (KLC2-AS1) | ||
| XR_950216.2:n.760-158G>A (KLC2-AS1) | ||
| XR_950217.2:n.762-158G>A (KLC2-AS1) | ||
| NM_001134776.2:c.507C>T (KLC2) | NP_001128248.1:p.Pro169= | |
| NM_001318734.2:c.507C>T (KLC2) MANE Select | NP_001305663.1:p.Pro169= | |
| NM_022822.3:c.507C>T (KLC2) | NP_073733.1:p.Pro169= | |
| NM_001134774.2:c.276C>T (KLC2) | NP_001128246.1:p.Pro92= | |
| NM_001134775.2:c.507C>T (KLC2) | NP_001128247.1:p.Pro169= |