Linked Data
ClinVar Variation Id:
2188187
ClinVar RCV Id:
RCV002616342
gnomAD v4:
2-96265262-A-G
MyVariant Identifiers:
chr2:g.96931000A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265262A>G , CM000664.2:g.96265262A>G | GRCh38 |
| NC_000002.11:g.96931000A>G , CM000664.1:g.96931000A>G | GRCh37 |
| NC_000002.10:g.96294727A>G | NCBI36 |
| NG_027695.1:g.5752T>C , LRG_528:g.5752T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.120T>C MANE Select | ENSP00000258439.3:p.Ser40= | |
| ENST00000258439.7:c.120T>C | ENSP00000258439.2:p.Ser40= | |
| ENST00000432959.1:c.120T>C | ENSP00000416660.1:p.Ser40= | |
| NM_001193304.2:c.120T>C | NP_001180233.1:p.Ser40= | |
| NM_017849.3:c.120T>C , LRG_528t1:c.120T>C | NP_060319.1:p.Ser40= | |
| NM_001193304.3:c.120T>C | NP_001180233.1:p.Ser40= | |
| NM_017849.4:c.120T>C MANE Select | NP_060319.1:p.Ser40= |