Linked Data
ClinVar Variation Id:
305377
dbSNP Id:
rs2234473
ExAC:
11:65634533 G / A
gnomAD v2:
11-65634533-G-A
gnomAD v3:
11-65867062-G-A
gnomAD v4:
11-65867062-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65867062G>A , CM000673.2:g.65867062G>A | GRCh38 |
| NC_000011.9:g.65634533G>A , CM000673.1:g.65634533G>A | GRCh37 |
| NC_000011.8:g.65391109G>A | NCBI36 |
| NG_012304.2:g.10873C>T | |
| NG_053116.1:g.12001G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.1188C>T (EFEMP2) MANE Select | ENSP00000309953.6:p.Ser396= | |
| ENST00000307998.10:c.1188C>T (EFEMP2) | ENSP00000309953.6:p.Ser396= | |
| ENST00000524408.1:c.64C>T (EFEMP2) | ||
| ENST00000525006.1:n.38-195G>A (MUS81) | ||
| ENST00000526628.5:n.1754C>T (EFEMP2) | ||
| ENST00000526911.1:c.165C>T (EFEMP2) | ENSP00000436536.1:p.Ser55= | |
| ENST00000527277.5:c.19C>T (EFEMP2) | ||
| ENST00000528176.5:c.1171-350C>T (EFEMP2) | ENSP00000434151.1:n.1171-350C>T | |
| ENST00000528409.1:n.421C>T (EFEMP2) | ||
| ENST00000530806.5:c.147C>T (EFEMP2) | ENSP00000436526.1:p.Ser49= | |
| ENST00000531645.5:c.319-128C>T (EFEMP2) | ENSP00000436521.1:n.319-128C>T | |
| ENST00000531972.5:c.1188C>T (EFEMP2) | ENSP00000435295.1:p.Ser396= | |
| ENST00000532648.1:n.43C>T (EFEMP2) | ||
| NM_016938.4:c.1188C>T (EFEMP2) | NP_058634.4:p.Ser396= | |
| NR_037718.1:n.1447C>T (EFEMP2) | ||
| NR_146598.1:n.1845-195G>A (MUS81) | ||
| NM_016938.5:c.1188C>T (EFEMP2) MANE Select | NP_058634.4:p.Ser396= | |
| NR_037718.2:n.1313C>T (EFEMP2) | ||
| NR_146598.2:n.1813-195G>A (MUS81) |