Linked Data
ClinVar Variation Id:
134127
ClinVar RCV Id:
RCV000120799
dbSNP Id:
rs587778279
ExAC:
2:128047053 C / G
gnomAD v2:
2-128047053-C-G
gnomAD v4:
2-127289477-C-G
MyVariant Identifiers:
chr2:g.128047053C>G (hg19)
chr2:g.128047053_128047056delinsGACT (hg19)
chr2:g.127289477C>G (hg38)
chr2:g.127289477_127289480delinsGACT (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127289477C>G , CM000664.2:g.127289477C>G | GRCh38 |
| NC_000002.11:g.128047053C>G , CM000664.1:g.128047053C>G | GRCh37 |
| NC_000002.10:g.127763523C>G | NCBI36 |
| NG_007454.1:g.9700G>C , LRG_462:g.9700G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.682G>C MANE Select | ENSP00000285398.2:p.Gly228Arg | |
| ENST00000643982.1:n.279G>C | ||
| ENST00000644317.1:c.*171G>C | ENSP00000494012.1:n.*171G>C | |
| ENST00000645233.1:c.*894G>C | ENSP00000494116.1:n.*894G>C | |
| ENST00000645467.1:c.682G>C | ENSP00000494889.1:p.Gly228Arg | |
| ENST00000645736.1:c.538G>C | ENSP00000494545.1:p.Gly180Arg | |
| ENST00000646042.1:n.1417G>C | ||
| ENST00000646654.1:c.*149G>C | ENSP00000494526.1:n.*149G>C | |
| ENST00000647169.1:c.682G>C | ENSP00000495619.1:p.Gly228Arg | |
| ENST00000647496.1:c.255G>C | ||
| ENST00000285398.6:c.682G>C | ENSP00000285398.2:p.Gly228Arg | |
| ENST00000426778.5:c.*663G>C | ENSP00000415335.1:n.*663G>C | |
| ENST00000445889.5:c.*725G>C | ENSP00000390888.1:n.*725G>C | |
| ENST00000456257.1:c.231G>C | ||
| ENST00000460485.1:n.714G>C | ||
| ENST00000494464.5:n.753G>C | ||
| NM_000122.1:c.682G>C , LRG_462t1:c.682G>C | NP_000113.1:p.Gly228Arg | |
| NM_001303416.1:c.490G>C | NP_001290345.1:p.Gly164Arg | |
| NM_001303418.1:c.490G>C | NP_001290347.1:p.Gly164Arg | |
| XM_011510794.1:c.700G>C | XP_011509096.1:p.Gly234Arg | |
| XM_011510795.1:c.244G>C | XP_011509097.1:p.Gly82Arg | |
| XM_011510794.2:c.700G>C | XP_011509096.1:p.Gly234Arg | |
| XM_017003583.1:c.226G>C | XP_016859072.1:p.Gly76Arg | |
| NM_000122.2:c.682G>C MANE Select | NP_000113.1:p.Gly228Arg | |
| NM_001303416.2:c.490G>C | NP_001290345.1:p.Gly164Arg | |
| NM_001303418.2:c.490G>C | NP_001290347.1:p.Gly164Arg |