Linked Data
ClinVar Variation Id:
1664852
dbSNP Id:
rs753389377
gnomAD v3:
2-29071196-G-A
gnomAD v4:
2-29071196-G-A
MyVariant Identifiers:
chr2:g.29294062G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071196G>A , CM000664.2:g.29071196G>A | GRCh38 |
| NC_000002.11:g.29294062G>A , CM000664.1:g.29294062G>A | GRCh37 |
| NC_000002.10:g.29147566G>A | NCBI36 |
| NG_021427.1:g.8066C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3066C>T MANE Select | ENSP00000332809.4:p.Ser1022= | |
| ENST00000331664.5:c.3066C>T | ENSP00000332809.4:p.Ser1022= | |
| NM_001029883.2:c.3066C>T | NP_001025054.1:p.Ser1022= | |
| XM_011532826.1:c.3066C>T | XP_011531128.1:p.Ser1022= | |
| XR_939901.1:n.185+2029G>A | ||
| XR_939902.1:n.173+2041G>A | ||
| NM_001029883.3:c.3066C>T MANE Select | NP_001025054.1:p.Ser1022= |