Linked Data
ClinVar Variation Id:
2566589
ClinVar RCV Id:
RCV003293716
dbSNP Id:
rs863225281
MyVariant Identifiers:
chr2:g.29443695G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220829G>A , CM000664.2:g.29220829G>A | GRCh38 |
| NC_000002.11:g.29443695G>A , CM000664.1:g.29443695G>A | GRCh37 |
| NC_000002.10:g.29297199G>A | NCBI36 |
| NG_009445.1:g.705738C>T , LRG_488:g.705738C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3522C>T MANE Select | ENSP00000373700.3:p.Phe1174= | |
| ENST00000431873.6:c.749C>T | ||
| ENST00000638605.1:n.399C>T | ||
| ENST00000642122.1:c.318C>T | ENSP00000493203.1:p.Phe106= | |
| ENST00000389048.7:c.3522C>T | ENSP00000373700.3:p.Phe1174= | |
| ENST00000431873.5:c.402C>T | ENSP00000414027.2:p.Phe134= | |
| ENST00000618119.4:c.2391C>T | ENSP00000482733.1:p.Phe797= | |
| NM_004304.4:c.3522C>T | NP_004295.2:p.Phe1174= | |
| NM_001353765.1:c.318C>T | NP_001340694.1:p.Phe106= | |
| XM_024452778.1:c.675C>T | XP_024308546.1:p.Phe225= | |
| XM_024452779.1:c.318C>T | XP_024308547.1:p.Phe106= | |
| NM_004304.5:c.3522C>T MANE Select | NP_004295.2:p.Phe1174= | |
| NM_001353765.2:c.318C>T | NP_001340694.1:p.Phe106= |