Linked Data
ClinVar Variation Id:
1101930
dbSNP Id:
rs1687190320
gnomAD v3:
2-47162532-T-C
gnomAD v4:
2-47162532-T-C
MyVariant Identifiers:
chr2:g.47389671T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47162532T>C , CM000664.2:g.47162532T>C | GRCh38 |
| NC_000002.11:g.47389671T>C , CM000664.1:g.47389671T>C | GRCh37 |
| NC_000002.10:g.47243175T>C | NCBI36 |
| NG_042065.1:g.19405A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272298.12:c.165A>G MANE Select | ENSP00000272298.7:p.Glu55= | |
| ENST00000456319.6:c.57A>G | ENSP00000411440.2:p.Glu19= | |
| ENST00000652974.1:c.*149A>G | ENSP00000499369.1:n.*149A>G | |
| ENST00000655450.1:c.57A>G | ENSP00000499266.1:p.Glu19= | |
| ENST00000655728.1:c.57A>G | ENSP00000499656.1:p.Glu19= | |
| ENST00000656538.1:c.57A>G | ENSP00000499357.1:p.Glu19= | |
| ENST00000668667.1:c.57A>G | ENSP00000499706.1:p.Glu19= | |
| ENST00000670593.1:n.1070A>G | ||
| ENST00000272298.11:c.165A>G | ENSP00000272298.7:p.Glu55= | |
| ENST00000409563.5:c.306A>G | ENSP00000387065.1:p.Glu102= | |
| ENST00000422269.1:c.102+8202A>G | ||
| ENST00000432899.5:c.165A>G | ENSP00000406112.1:p.Glu55= | |
| ENST00000456319.5:c.279A>G | ENSP00000411440.1:p.Glu93= | |
| ENST00000460218.5:n.3605A>G | ||
| ENST00000482532.5:n.1432A>G | ||
| ENST00000484408.5:n.426A>G | ||
| ENST00000489742.1:n.402A>G | ||
| ENST00000628793.2:c.165A>G | ENSP00000486952.1:p.Glu55= | |
| NM_001305624.1:c.309A>G | NP_001292553.1:p.Glu103= | |
| NM_001305625.1:c.57A>G | NP_001292554.1:p.Glu19= | |
| NM_001305626.1:c.57A>G | NP_001292555.1:p.Glu19= | |
| NM_001743.4:c.165A>G | NP_001734.1:p.Glu55= | |
| NM_001743.5:c.165A>G | NP_001734.1:p.Glu55= | |
| NM_001743.6:c.165A>G MANE Select | NP_001734.1:p.Glu55= | |
| NM_001305625.2:c.57A>G | NP_001292554.1:p.Glu19= |