Linked Data
ClinVar Variation Id:
372518
dbSNP Id:
rs782032018
gnomAD v3:
2-31580801-C-T
gnomAD v4:
2-31580801-C-T
MyVariant Identifiers:
chr2:g.31580801C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580801C>T , CM000664.2:g.31580801C>T | GRCh38 |
| NG_008365.1:g.5171G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.100G>A MANE Select | ENSP00000477587.1:p.Gly34Arg | |
| ENST00000622030.1:c.100G>A | ENSP00000477587.1:p.Gly34Arg | |
| NM_000348.3:c.100G>A | NP_000339.2:p.Gly34Arg | |
| XM_011533068.1:c.100G>A | XP_011531370.1:p.Gly34Arg | |
| XM_011533070.1:c.27-47035G>A | XP_011531372.1:n.27-47035G>A | |
| XM_011533071.1:c.27-47035G>A | XP_011531373.1:n.27-47035G>A | |
| XM_011533072.1:c.27-47035G>A | XP_011531374.1:n.27-47035G>A | |
| XM_011533072.2:c.27-47035G>A | XP_011531374.1:n.27-47035G>A | |
| NM_000348.4:c.100G>A MANE Select | NP_000339.2:p.Gly34Arg |