Linked Data
ClinVar Variation Id:
799122
ClinVar RCV Id:
RCV000982701
dbSNP Id:
rs556408432
ExAC:
11:66031564 G / A
gnomAD v2:
11-66031564-G-A
gnomAD v3:
11-66264093-G-A
gnomAD v4:
11-66264093-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66264093G>A , CM000673.2:g.66264093G>A | GRCh38 |
| NC_000011.9:g.66031564G>A , CM000673.1:g.66031564G>A | GRCh37 |
| NC_000011.8:g.65788140G>A | NCBI36 |
| NG_046774.1:g.11800G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394067.7:c.990G>A (KLC2) MANE Select | ENSP00000377631.2:p.Leu330= | |
| ENST00000316924.9:c.990G>A (KLC2) | ENSP00000314837.5:p.Leu330= | |
| ENST00000394065.2:c.573G>A (KLC2) | ENSP00000377629.2:p.Leu191= | |
| ENST00000394066.6:c.759G>A (KLC2) | ENSP00000377630.2:p.Leu253= | |
| ENST00000394067.6:c.990G>A (KLC2) | ENSP00000377631.2:p.Leu330= | |
| ENST00000394078.5:c.752+1057G>A (KLC2) | ENSP00000377641.1:n.752+1057G>A | |
| ENST00000417856.5:c.990G>A (KLC2) | ENSP00000399403.1:p.Leu330= | |
| ENST00000421552.5:c.759G>A (KLC2) | ENSP00000408484.1:p.Leu253= | |
| NM_001134774.1:c.759G>A (KLC2) | NP_001128246.1:p.Leu253= | |
| NM_001134775.1:c.990G>A (KLC2) | NP_001128247.1:p.Leu330= | |
| NM_001134776.1:c.990G>A (KLC2) | NP_001128248.1:p.Leu330= | |
| NM_022822.2:c.990G>A (KLC2) | NP_073733.1:p.Leu330= | |
| XM_005274182.1:c.990G>A (KLC2) | XP_005274239.1:p.Leu330= | |
| XM_005274183.1:c.990G>A (KLC2) | XP_005274240.1:p.Leu330= | |
| XM_005274184.1:c.990G>A (KLC2) | XP_005274241.1:p.Leu330= | |
| XM_006718665.1:c.990G>A (KLC2) | XP_006718728.1:p.Leu330= | |
| XR_950215.1:n.553-213C>T (KLC2-AS1) | ||
| XR_950216.1:n.569+131C>T (KLC2-AS1) | ||
| XR_950217.1:n.572-213C>T (KLC2-AS1) | ||
| NM_001318734.1:c.990G>A (KLC2) | NP_001305663.1:p.Leu330= | |
| XM_017018133.1:c.399G>A (KLC2) | XP_016873622.1:p.Leu133= | |
| XM_024448657.1:c.990G>A (KLC2) | XP_024304425.1:p.Leu330= | |
| XR_001748271.2:n.543-213C>T (KLC2-AS1) | ||
| XR_001748272.1:n.543-213C>T (KLC2-AS1) | ||
| XR_001748273.1:n.543-213C>T (KLC2-AS1) | ||
| XR_950215.2:n.543-213C>T (KLC2-AS1) | ||
| XR_950216.2:n.569+131C>T (KLC2-AS1) | ||
| XR_950217.2:n.572-213C>T (KLC2-AS1) | ||
| NM_001134776.2:c.990G>A (KLC2) | NP_001128248.1:p.Leu330= | |
| NM_001318734.2:c.990G>A (KLC2) MANE Select | NP_001305663.1:p.Leu330= | |
| NM_022822.3:c.990G>A (KLC2) | NP_073733.1:p.Leu330= | |
| NM_001134774.2:c.759G>A (KLC2) | NP_001128246.1:p.Leu253= | |
| NM_001134775.2:c.990G>A (KLC2) | NP_001128247.1:p.Leu330= |