Linked Data
ClinVar Variation Id:
540027
dbSNP Id:
rs543567156
ExAC:
11:65634538 C / T
gnomAD v2:
11-65634538-C-T
gnomAD v3:
11-65867067-C-T
gnomAD v4:
11-65867067-C-T
MyVariant Identifiers:
chr11:g.65634538C>T (hg19)
chr11:g.65634538_65634541delinsTGTT (hg19)
chr11:g.65867067C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65867067C>T , CM000673.2:g.65867067C>T | GRCh38 |
| NC_000011.9:g.65634538C>T , CM000673.1:g.65634538C>T | GRCh37 |
| NC_000011.8:g.65391114C>T | NCBI36 |
| NG_012304.2:g.10868G>A | |
| NG_053116.1:g.12006C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.1183G>A (EFEMP2) MANE Select | ENSP00000309953.6:p.Val395Ile | |
| ENST00000307998.10:c.1183G>A (EFEMP2) | ENSP00000309953.6:p.Val395Ile | |
| ENST00000524408.1:c.59G>A (EFEMP2) | ||
| ENST00000525006.1:n.38-190C>T (MUS81) | ||
| ENST00000526628.5:n.1749G>A (EFEMP2) | ||
| ENST00000526911.1:c.160G>A (EFEMP2) | ENSP00000436536.1:p.Val54Ile | |
| ENST00000527277.5:c.14G>A (EFEMP2) | ||
| ENST00000528176.5:c.1171-355G>A (EFEMP2) | ENSP00000434151.1:n.1171-355G>A | |
| ENST00000528409.1:n.416G>A (EFEMP2) | ||
| ENST00000530806.5:c.142G>A (EFEMP2) | ENSP00000436526.1:p.Val48Ile | |
| ENST00000531645.5:c.319-133G>A (EFEMP2) | ENSP00000436521.1:n.319-133G>A | |
| ENST00000531972.5:c.1183G>A (EFEMP2) | ENSP00000435295.1:p.Val395Ile | |
| ENST00000532648.1:n.38G>A (EFEMP2) | ||
| NM_016938.4:c.1183G>A (EFEMP2) | NP_058634.4:p.Val395Ile | |
| NR_037718.1:n.1442G>A (EFEMP2) | ||
| NR_146598.1:n.1845-190C>T (MUS81) | ||
| NM_016938.5:c.1183G>A (EFEMP2) MANE Select | NP_058634.4:p.Val395Ile | |
| NR_037718.2:n.1308G>A (EFEMP2) | ||
| NR_146598.2:n.1813-190C>T (MUS81) |