Linked Data
ClinVar Variation Id:
2497303
ClinVar RCV Id:
RCV003213758
dbSNP Id:
rs777896102
gnomAD v3:
2-189050611-C-G
gnomAD v4:
2-189050611-C-G
MyVariant Identifiers:
chr2:g.189915337C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050611C>G , CM000664.2:g.189050611C>G | GRCh38 |
| NC_000002.11:g.189915337C>G , CM000664.1:g.189915337C>G | GRCh37 |
| NC_000002.10:g.189623582C>G | NCBI36 |
| NG_011799.1:g.134269G>C | |
| NG_011799.2:g.134269G>C | |
| NG_011799.3:g.179691G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2997G>C MANE Select | ENSP00000364000.3:p.Gly999= | |
| ENST00000374866.7:c.2997G>C | ENSP00000364000.3:p.Gly999= | |
| ENST00000618828.1:c.1836G>C | ENSP00000482184.1:p.Gly612= | |
| NM_000393.3:c.2997G>C | NP_000384.2:p.Gly999= | |
| XM_011510573.1:c.2859G>C | XP_011508875.1:p.Gly953= | |
| NM_000393.4:c.2997G>C | NP_000384.2:p.Gly999= | |
| XM_011510573.3:c.2859G>C | XP_011508875.1:p.Gly953= | |
| NM_000393.5:c.2997G>C MANE Select | NP_000384.2:p.Gly999= |