Linked Data
ClinVar Variation Id:
1108161
ClinVar RCV Id:
RCV001433511
dbSNP Id:
rs2148416440
gnomAD v4:
2-29073017-T-A
MyVariant Identifiers:
chr2:g.29295883T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073017T>A , CM000664.2:g.29073017T>A | GRCh38 |
| NC_000002.11:g.29295883T>A , CM000664.1:g.29295883T>A | GRCh37 |
| NC_000002.10:g.29149387T>A | NCBI36 |
| NG_021427.1:g.6245A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.1245A>T MANE Select | ENSP00000332809.4:p.Ser415= | |
| ENST00000331664.5:c.1245A>T | ENSP00000332809.4:p.Ser415= | |
| NM_001029883.2:c.1245A>T | NP_001025054.1:p.Ser415= | |
| XM_011532826.1:c.1245A>T | XP_011531128.1:p.Ser415= | |
| XR_939901.1:n.185+3850T>A | ||
| XR_939902.1:n.173+3862T>A | ||
| NM_001029883.3:c.1245A>T MANE Select | NP_001025054.1:p.Ser415= |