Linked Data
ClinVar Variation Id:
1980529
ClinVar RCV Id:
RCV002780269
gnomAD v4:
2-233346894-G-A
MyVariant Identifiers:
chr2:g.234255540G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233346894G>A , CM000664.2:g.233346894G>A | GRCh38 |
| NC_000002.11:g.234255540G>A , CM000664.1:g.234255540G>A | GRCh37 |
| NC_000002.10:g.233920279G>A | NCBI36 |
| NG_009116.1:g.44232G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409110.6:c.1200G>A MANE Select | ENSP00000386444.1:p.Lys400= | |
| ENST00000409110.5:c.1200G>A | ENSP00000386444.1:p.Lys400= | |
| ENST00000412969.6:n.2420G>A | ||
| ENST00000471884.5:n.3231G>A | ||
| ENST00000474220.5:n.406G>A | ||
| ENST00000476500.5:n.6499G>A | ||
| ENST00000492629.1:n.161G>A | ||
| NM_000541.4:c.1200G>A | NP_000532.2:p.Lys400= | |
| XM_011511589.1:c.1200G>A | XP_011509891.1:p.Lys400= | |
| XM_011511590.1:c.1200G>A | XP_011509892.1:p.Lys400= | |
| XM_011511591.1:c.*68G>A | XP_011509893.1:n.*68G>A | |
| XM_011511592.1:c.1044G>A | XP_011509894.1:p.Lys348= | |
| XM_011511593.1:c.900G>A | XP_011509895.1:p.Lys300= | |
| XM_011511594.1:c.828G>A | XP_011509896.1:p.Lys276= | |
| XM_011511596.1:c.798G>A | XP_011509898.1:p.Lys266= | |
| XM_011511597.1:c.798G>A | XP_011509899.1:p.Lys266= | |
| XR_922978.1:n.1517G>A | ||
| XR_922980.1:n.1616G>A | ||
| XM_011511593.3:c.900G>A | XP_011509895.1:p.Lys300= | |
| XM_017004641.1:c.*68G>A | XP_016860130.1:n.*68G>A | |
| XM_024453036.1:c.*68G>A | XP_024308804.1:n.*68G>A | |
| XR_001738882.1:n.1398G>A | ||
| XR_922980.2:n.1616G>A | ||
| NM_000541.5:c.1200G>A MANE Select | NP_000532.2:p.Lys400= |