Linked Data
ClinVar Variation Id:
2959576
ClinVar RCV Id:
RCV003811751
dbSNP Id:
rs1943756461
gnomAD v3:
2-218814137-G-A
gnomAD v4:
2-218814137-G-A
COSMIC:
COSM4954510
MyVariant Identifiers:
chr2:g.219678860G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814137G>A , CM000664.2:g.218814137G>A | GRCh38 |
| NC_000002.11:g.219678860G>A , CM000664.1:g.219678860G>A | GRCh37 |
| NC_000002.10:g.219387104G>A | NCBI36 |
| NG_007959.1:g.37389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1134G>A MANE Select | ENSP00000258415.4:p.Lys378= | |
| ENST00000258415.8:c.1134G>A | ENSP00000258415.4:p.Lys378= | |
| ENST00000494263.5:n.1568G>A | ||
| NM_000784.3:c.1134G>A | NP_000775.1:p.Lys378= | |
| XM_017003488.2:c.714G>A | XP_016858977.1:p.Lys238= | |
| NM_000784.4:c.1134G>A MANE Select | NP_000775.1:p.Lys378= |