Linked Data
ClinVar Variation Id:
2027817
ClinVar RCV Id:
RCV002866807
MyVariant Identifiers:
chr2:g.27676374C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27453507C>T , CM000664.2:g.27453507C>T | GRCh38 |
| NC_000002.11:g.27676374C>T , CM000664.1:g.27676374C>T | GRCh37 |
| NC_000002.10:g.27529878C>T | NCBI36 |
| NG_034068.1:g.41305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.3828G>A MANE Select | ENSP00000260570.3:p.Val1276= | |
| ENST00000674701.1:c.*3341G>A | ENSP00000502275.1:n.*3341G>A | |
| ENST00000674824.1:c.*2276G>A | ENSP00000501824.1:n.*2276G>A | |
| ENST00000674932.1:c.*4274G>A | ENSP00000501967.1:n.*4274G>A | |
| ENST00000675410.1:c.*1699G>A | ENSP00000502030.1:n.*1699G>A | |
| ENST00000675690.1:c.3762G>A | ENSP00000502283.1:p.Val1254= | |
| ENST00000676119.1:c.*3118G>A | ENSP00000501701.1:n.*3118G>A | |
| ENST00000260570.7:c.3828G>A | ENSP00000260570.3:p.Val1276= | |
| ENST00000443889.1:c.433G>A | ||
| ENST00000450564.1:c.160G>A | ENSP00000399017.1:p.Gly54Arg | |
| ENST00000475909.1:n.146G>A | ||
| ENST00000507184.5:n.4109G>A | ||
| ENST00000509128.5:c.223G>A | ||
| NM_015662.2:c.3828G>A | NP_056477.1:p.Val1276= | |
| XM_005264254.1:c.3762G>A | XP_005264311.1:p.Val1254= | |
| XM_006711986.2:c.3765G>A | XP_006712049.1:p.Val1255= | |
| XM_006711987.1:c.3828G>A | XP_006712050.1:p.Val1276= | |
| XM_011532757.1:c.3147G>A | XP_011531059.1:p.Val1049= | |
| XM_011532758.1:c.3828G>A | XP_011531060.1:p.Val1276= | |
| XM_011532759.1:c.2268G>A | XP_011531061.1:p.Val756= | |
| XM_011532760.1:c.1893G>A | XP_011531062.1:p.Val631= | |
| XM_006711986.3:c.3765G>A | XP_006712049.1:p.Val1255= | |
| XM_011532757.2:c.3147G>A | XP_011531059.1:p.Val1049= | |
| XM_011532759.2:c.2268G>A | XP_011531061.1:p.Val756= | |
| XM_011532760.2:c.1893G>A | XP_011531062.1:p.Val631= | |
| XM_017003790.1:c.3699G>A | XP_016859279.1:p.Val1233= | |
| XM_017003791.1:c.3147G>A | XP_016859280.1:p.Val1049= | |
| XM_017003792.1:c.3718G>A | XP_016859281.1:p.Gly1240Arg | |
| XM_017003793.1:c.1965G>A | XP_016859282.1:p.Val655= | |
| XM_017003794.1:c.1965G>A | XP_016859283.1:p.Val655= | |
| XM_017003795.1:c.1761G>A | XP_016859284.1:p.Val587= | |
| XR_001738698.1:n.3773G>A | ||
| NM_015662.3:c.3828G>A MANE Select | NP_056477.1:p.Val1276= |