Linked Data
ClinVar Variation Id:
2086470
ClinVar RCV Id:
RCV003007502
MyVariant Identifiers:
chr2:g.39249865C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022724C>T , CM000664.2:g.39022724C>T | GRCh38 |
| NC_000002.11:g.39249865C>T , CM000664.1:g.39249865C>T | GRCh37 |
| NC_000002.10:g.39103369C>T | NCBI36 |
| NG_007530.1:g.102740G>A , LRG_754:g.102740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1584G>A | ||
| ENST00000685279.1:c.471G>A | ENSP00000509424.1:p.Arg157= | |
| ENST00000688043.1:n.1925G>A | ||
| ENST00000689668.1:n.1711G>A | ||
| ENST00000690876.1:c.1593G>A | ENSP00000508955.1:p.Arg531= | |
| ENST00000691229.1:c.1593G>A | ENSP00000510437.1:p.Arg531= | |
| ENST00000692089.1:c.1593G>A | ENSP00000508626.1:p.Arg531= | |
| ENST00000692620.1:c.471G>A | ENSP00000509311.1:p.Arg157= | |
| ENST00000402219.8:c.1704G>A MANE Select | ENSP00000384675.2:p.Arg568= | |
| ENST00000395038.6:c.1704G>A | ENSP00000378479.2:p.Arg568= | |
| ENST00000402219.6:c.1704G>A | ENSP00000384675.2:p.Arg568= | |
| ENST00000426016.5:c.1704G>A | ENSP00000387784.1:p.Arg568= | |
| NM_005633.3:c.1704G>A , LRG_754t1:c.1704G>A | NP_005624.2:p.Arg568= | |
| XM_005264515.3:c.1704G>A | XP_005264572.1:p.Arg568= | |
| XM_011533060.1:c.1797G>A | XP_011531362.1:p.Arg599= | |
| XM_011533061.1:c.1797G>A | XP_011531363.1:p.Arg599= | |
| XM_011533062.1:c.1683G>A | XP_011531364.1:p.Arg561= | |
| XM_011533063.1:c.1680G>A | XP_011531365.1:p.Arg560= | |
| XM_011533064.1:c.1533G>A | XP_011531366.1:p.Arg511= | |
| XM_011533065.1:c.1797G>A | XP_011531367.1:p.Arg599= | |
| XM_011533066.1:c.639G>A | XP_011531368.1:p.Arg213= | |
| XM_005264515.4:c.1704G>A | XP_005264572.1:p.Arg568= | |
| XM_011533062.2:c.1683G>A | XP_011531364.1:p.Arg561= | |
| XM_011533064.2:c.1533G>A | XP_011531366.1:p.Arg511= | |
| NM_001382394.1:c.1683G>A | NP_001369323.1:p.Arg561= | |
| NM_001382395.1:c.1704G>A | NP_001369324.1:p.Arg568= | |
| NM_005633.4:c.1704G>A MANE Select | NP_005624.2:p.Arg568= |