Linked Data
ClinVar Variation Id:
3004842
ClinVar RCV Id:
RCV003860945
MyVariant Identifiers:
chr2:g.128018900A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127261324A>G , CM000664.2:g.127261324A>G | GRCh38 |
| NC_000002.11:g.128018900A>G , CM000664.1:g.128018900A>G | GRCh37 |
| NC_000002.10:g.127735370A>G | NCBI36 |
| NG_007454.1:g.37853T>C , LRG_462:g.37853T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.1968T>C MANE Select | ENSP00000285398.2:p.Asn656= | |
| ENST00000642972.1:n.327T>C | ||
| ENST00000644317.1:c.*1457T>C | ENSP00000494012.1:n.*1457T>C | |
| ENST00000645233.1:c.*2180T>C | ENSP00000494116.1:n.*2180T>C | |
| ENST00000645467.1:c.*740T>C | ENSP00000494889.1:n.*740T>C | |
| ENST00000645504.1:c.624T>C | ||
| ENST00000645736.1:c.1639T>C | ENSP00000494545.1:n.1639T>C | |
| ENST00000646042.1:n.2703T>C | ||
| ENST00000646654.1:c.*1435T>C | ENSP00000494526.1:n.*1435T>C | |
| ENST00000647169.1:c.2043T>C | ENSP00000495619.1:p.Asn681= | |
| ENST00000647496.1:c.396-3722T>C | ||
| ENST00000285398.6:c.1968T>C | ENSP00000285398.2:p.Asn656= | |
| ENST00000426778.5:c.*1949T>C | ENSP00000415335.1:n.*1949T>C | |
| ENST00000445889.5:c.*2011T>C | ENSP00000390888.1:n.*2011T>C | |
| ENST00000491292.5:n.1559T>C | ||
| NM_000122.1:c.1968T>C , LRG_462t1:c.1968T>C | NP_000113.1:p.Asn656= | |
| NM_001303416.1:c.1776T>C | NP_001290345.1:p.Asn592= | |
| NM_001303418.1:c.1776T>C | NP_001290347.1:p.Asn592= | |
| XM_011510794.1:c.1986T>C | XP_011509096.1:p.Asn662= | |
| XM_011510795.1:c.1530T>C | XP_011509097.1:p.Asn510= | |
| XM_011510794.2:c.1986T>C | XP_011509096.1:p.Asn662= | |
| XM_017003583.1:c.1512T>C | XP_016859072.1:p.Asn504= | |
| NM_000122.2:c.1968T>C MANE Select | NP_000113.1:p.Asn656= | |
| NM_001303416.2:c.1776T>C | NP_001290345.1:p.Asn592= | |
| NM_001303418.2:c.1776T>C | NP_001290347.1:p.Asn592= |