Linked Data
ClinVar Variation Id:
18341
dbSNP Id:
rs121912672
ExAC:
2:233404782 C / T
gnomAD v2:
2-233404782-C-T
gnomAD v3:
2-232540072-C-T
gnomAD v4:
2-232540072-C-T
MyVariant Identifiers:
chr2:g.233404782C>T (hg19)
chr2:g.233404782_233404784delinsTGA (hg19)
chr2:g.232540072C>T (hg38)
chr2:g.232540072_232540074delinsTGA (hg38)
PubMed:
PMID:16826531
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232540072C>T , CM000664.2:g.232540072C>T | GRCh38 |
| NC_000002.11:g.233404782C>T , CM000664.1:g.233404782C>T | GRCh37 |
| NC_000002.10:g.233113026C>T | NCBI36 |
| NG_012954.1:g.5346C>T | |
| NG_012954.2:g.5381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.136C>T MANE Select | ENSP00000498757.1:p.Arg46Ter | |
| ENST00000389492.3:c.136C>T | ENSP00000374143.3:p.Arg46Ter | |
| ENST00000389494.7:c.136C>T | ENSP00000374145.3:p.Arg46Ter | |
| ENST00000485094.1:n.157C>T | ||
| NM_005199.4:c.136C>T | NP_005190.4:p.Arg46Ter | |
| NM_005199.5:c.136C>T MANE Select | NP_005190.4:p.Arg46Ter |