Linked Data
ClinVar Variation Id:
1956287
ClinVar RCV Id:
RCV002700735
gnomAD v4:
2-21010178-A-G
MyVariant Identifiers:
chr2:g.21233050A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010178A>G , CM000664.2:g.21010178A>G | GRCh38 |
| NC_000002.11:g.21233050A>G , CM000664.1:g.21233050A>G | GRCh37 |
| NC_000002.10:g.21086555A>G | NCBI36 |
| NG_011793.1:g.38896T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6690T>C MANE Select | ENSP00000233242.1:p.His2230= | |
| ENST00000616098.4:c.6690T>C | ENSP00000477990.1:p.His2230= | |
| NM_000384.2:c.6690T>C | NP_000375.2:p.His2230= | |
| XM_011532809.1:c.5869+555T>C | XP_011531111.1:n.5869+555T>C | |
| NM_000384.3:c.6690T>C MANE Select | NP_000375.3:p.His2230= |