Linked Data
ClinVar Variation Id:
1611573
ClinVar RCV Id:
RCV002148124
dbSNP Id:
rs2059643840
MyVariant Identifiers:
chr2:g.179495052A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630325A>G , CM000664.2:g.178630325A>G | GRCh38 |
| NC_000002.11:g.179495052A>G , CM000664.1:g.179495052A>G | GRCh37 |
| NC_000002.10:g.179203297A>G | NCBI36 |
| NG_011618.3:g.205478T>C , LRG_391:g.205478T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.36493T>C | ENSP00000343764.6:p.Leu12165= | |
| ENST00000342175.11:c.17578T>C | ENSP00000340554.6:p.Leu5860= | |
| ENST00000359218.10:c.17377T>C | ENSP00000352154.5:p.Leu5793= | |
| ENST00000342175.10:c.17578T>C | ENSP00000340554.6:p.Leu5860= | |
| ENST00000342992.10:c.36493T>C | ENSP00000343764.6:p.Leu12165= | |
| ENST00000359218.9:c.17377T>C | ENSP00000352154.5:p.Leu5793= | |
| ENST00000460472.6:c.17002T>C | ENSP00000434586.1:p.Leu5668= | |
| ENST00000589042.5:c.44197T>C MANE Select | ENSP00000467141.1:p.Leu14733= | |
| ENST00000591111.5:c.39274T>C | ENSP00000465570.1:p.Leu13092= | |
| ENST00000615779.4:c.39274T>C | ENSP00000483597.1:p.Leu13092= | |
| NM_001256850.1:c.39274T>C | NP_001243779.1:p.Leu13092= | |
| NM_001267550.2:c.44197T>C MANE Select | NP_001254479.2:p.Leu14733= | |
| NM_003319.4:c.17002T>C | NP_003310.4:p.Leu5668= | |
| NM_133378.4:c.36493T>C | NP_596869.4:p.Leu12165= | |
| NM_133432.3:c.17377T>C | NP_597676.3:p.Leu5793= | |
| NM_133437.4:c.17578T>C | NP_597681.4:p.Leu5860= | |
| XM_011511729.1:c.43294T>C | XP_011510031.1:p.Leu14432= | |
| XM_011511730.1:c.17188T>C | XP_011510032.1:p.Leu5730= | |
| XM_011511731.1:c.17047T>C | XP_011510033.1:p.Leu5683= | |
| XM_017004819.1:c.43090T>C | XP_016860308.1:p.Leu14364= | |
| XM_017004820.1:c.38488T>C | XP_016860309.1:p.Leu12830= | |
| XM_017004821.1:c.38485T>C | XP_016860310.1:p.Leu12829= | |
| XM_017004822.1:c.35527T>C | XP_016860311.1:p.Leu11843= | |
| XM_017004823.1:c.17143T>C | XP_016860312.1:p.Leu5715= | |
| XM_024453094.1:c.38638T>C | XP_024308862.1:p.Leu12880= | |
| XM_024453095.1:c.38635T>C | XP_024308863.1:p.Leu12879= | |
| XM_024453096.1:c.38068T>C | XP_024308864.1:p.Leu12690= | |
| XM_024453097.1:c.35410T>C | XP_024308865.1:p.Leu11804= | |
| XM_024453098.1:c.35329T>C | XP_024308866.1:p.Leu11777= | |
| XM_024453099.1:c.17092T>C | XP_024308867.1:p.Leu5698= | |
| XM_024453100.1:c.6946T>C | XP_024308868.1:p.Leu2316= |