Linked Data
ClinVar Variation Id:
1614112
ClinVar RCV Id:
RCV002173721
dbSNP Id:
rs2106011476
gnomAD v4:
2-218882185-C-T
MyVariant Identifiers:
chr2:g.219746907C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882185C>T , CM000664.2:g.218882185C>T | GRCh38 |
| NC_000002.11:g.219746907C>T , CM000664.1:g.219746907C>T | GRCh37 |
| NC_000002.10:g.219455151C>T | NCBI36 |
| NG_012179.1:g.6653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.138C>T MANE Select | ENSP00000258411.3:p.Asp46= | |
| ENST00000258411.7:c.138C>T | ENSP00000258411.3:p.Asp46= | |
| ENST00000458582.1:c.25C>T | ||
| NM_025216.2:c.138C>T | NP_079492.2:p.Asp46= | |
| XM_011511928.1:c.87C>T | XP_011510230.1:p.Asp29= | |
| XM_011511929.1:c.42C>T | XP_011510231.1:p.Asp14= | |
| XM_011511930.1:c.138C>T | XP_011510232.1:p.Asp46= | |
| XM_011511929.2:c.42C>T | XP_011510231.1:p.Asp14= | |
| NM_025216.3:c.138C>T MANE Select | NP_079492.2:p.Asp46= |