Linked Data
ClinVar Variation Id:
2834977
ClinVar RCV Id:
RCV003747266
gnomAD v4:
2-72887717-G-A
MyVariant Identifiers:
chr2:g.73114846G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72887717G>A , CM000664.2:g.72887717G>A | GRCh38 |
| NC_000002.11:g.73114846G>A , CM000664.1:g.73114846G>A | GRCh37 |
| NC_000002.10:g.72968354G>A | NCBI36 |
| NG_008234.1:g.5335G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.285G>A MANE Select | ENSP00000234454.5:p.Leu95= | |
| ENST00000234454.5:c.285G>A | ENSP00000234454.5:p.Leu95= | |
| ENST00000498749.1:n.336G>A | ||
| NM_003124.4:c.285G>A | NP_003115.1:p.Leu95= | |
| NM_003124.5:c.285G>A MANE Select | NP_003115.1:p.Leu95= |