Linked Data
ClinVar Variation Id:
1548160
ClinVar RCV Id:
RCV002165865
dbSNP Id:
rs180177247
gnomAD v4:
2-240873994-C-T
MyVariant Identifiers:
chr2:g.241813411C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873994C>T , CM000664.2:g.240873994C>T | GRCh38 |
| NC_000002.11:g.241813411C>T , CM000664.1:g.241813411C>T | GRCh37 |
| NC_000002.10:g.241462084C>T | NCBI36 |
| NG_008005.1:g.10250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.612C>T MANE Select | ENSP00000302620.3:p.Tyr204= | |
| ENST00000307503.3:c.612C>T | ENSP00000302620.3:p.Tyr204= | |
| ENST00000476698.1:n.332+945C>T | ||
| NM_000030.2:c.612C>T | NP_000021.1:p.Tyr204= | |
| NM_000030.3:c.612C>T MANE Select | NP_000021.1:p.Tyr204= |