Linked Data
dbSNP Id:
rs1698724353
gnomAD v3:
2-223053313-G-A
gnomAD v4:
2-223053313-G-A
MyVariant Identifiers:
chr2:g.223918031G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053313G>A , CM000664.2:g.223053313G>A | GRCh38 |
| NC_000002.11:g.223918031G>A , CM000664.1:g.223918031G>A | GRCh37 |
| NC_000002.10:g.223626275G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.483G>A MANE Select | ENSP00000281830.5:p.Gly161= | |
| ENST00000281830.3:c.636G>A | ENSP00000281830.4:p.Gly212= | |
| ENST00000488477.2:n.75+1039G>A | ||
| NM_080671.3:c.636G>A | NP_542402.3:p.Gly212= | |
| NM_080671.4:c.483G>A MANE Select | NP_542402.4:p.Gly161= |