Linked Data
ClinVar Variation Id:
267795
dbSNP Id:
rs199905054
ExAC:
15:29561120 G / A
gnomAD v2:
15-29561120-G-A
gnomAD v3:
15-29268916-G-A
gnomAD v4:
15-29268916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.29268916G>A , CM000677.2:g.29268916G>A | GRCh38 |
| NC_000015.9:g.29561120G>A , CM000677.1:g.29561120G>A | GRCh37 |
| NC_000015.8:g.27348412G>A | NCBI36 |
| NG_053143.1:g.5914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261275.5:c.277-16438C>T (ENTREP2) MANE Select | ENSP00000261275.4:n.277-16438C>T | |
| ENST00000332303.6:c.790C>T (NSMCE3) MANE Select | ENSP00000330694.4:p.Leu264Phe | |
| ENST00000261275.4:c.277-16438C>T (ENTREP2) | ENSP00000261275.4:n.277-16438C>T | |
| ENST00000332303.4:c.790C>T (NSMCE3) | ENSP00000330694.4:p.Leu264Phe | |
| ENST00000560082.1:c.-12-16438C>T (ENTREP2) | ENSP00000452860.1:n.-12-16438C>T | |
| NM_015307.1:c.277-16438C>T (ENTREP2) | NP_056122.1:n.277-16438C>T | |
| NM_138704.3:c.790C>T (NSMCE3) | NP_619649.1:p.Leu264Phe | |
| XM_011521407.1:c.160-16438C>T (ENTREP2) | XP_011519709.1:n.160-16438C>T | |
| XM_011521407.2:c.160-16438C>T (ENTREP2) | XP_011519709.1:n.160-16438C>T | |
| NM_138704.4:c.790C>T (NSMCE3) MANE Select | NP_619649.1:p.Leu264Phe | |
| NM_001387214.1:c.277-16438C>T (ENTREP2) | NP_001374143.1:n.277-16438C>T | |
| NM_001387215.1:c.-12-16438C>T (ENTREP2) | NP_001374144.1:n.-12-16438C>T | |
| NM_001387216.1:c.-12-16438C>T (ENTREP2) | NP_001374145.1:n.-12-16438C>T | |
| NM_001387217.1:c.-12-16438C>T (ENTREP2) | NP_001374146.1:n.-12-16438C>T | |
| NM_015307.2:c.277-16438C>T (ENTREP2) MANE Select | NP_056122.1:n.277-16438C>T |