Linked Data
ClinVar Variation Id:
1962919
ClinVar RCV Id:
RCV002710771
dbSNP Id:
rs774265391
ExAC:
15:29561058 C / T
gnomAD v2:
15-29561058-C-T
gnomAD v4:
15-29268854-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.29268854C>T , CM000677.2:g.29268854C>T | GRCh38 |
| NC_000015.9:g.29561058C>T , CM000677.1:g.29561058C>T | GRCh37 |
| NC_000015.8:g.27348350C>T | NCBI36 |
| NG_053143.1:g.5976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261275.5:c.277-16376G>A (ENTREP2) MANE Select | ENSP00000261275.4:n.277-16376G>A | |
| ENST00000332303.6:c.852G>A (NSMCE3) MANE Select | ENSP00000330694.4:p.Glu284= | |
| ENST00000261275.4:c.277-16376G>A (ENTREP2) | ENSP00000261275.4:n.277-16376G>A | |
| ENST00000332303.4:c.852G>A (NSMCE3) | ENSP00000330694.4:p.Glu284= | |
| ENST00000560082.1:c.-12-16376G>A (ENTREP2) | ENSP00000452860.1:n.-12-16376G>A | |
| NM_015307.1:c.277-16376G>A (ENTREP2) | NP_056122.1:n.277-16376G>A | |
| NM_138704.3:c.852G>A (NSMCE3) | NP_619649.1:p.Glu284= | |
| XM_011521407.1:c.160-16376G>A (ENTREP2) | XP_011519709.1:n.160-16376G>A | |
| XM_011521407.2:c.160-16376G>A (ENTREP2) | XP_011519709.1:n.160-16376G>A | |
| NM_138704.4:c.852G>A (NSMCE3) MANE Select | NP_619649.1:p.Glu284= | |
| NM_001387214.1:c.277-16376G>A (ENTREP2) | NP_001374143.1:n.277-16376G>A | |
| NM_001387215.1:c.-12-16376G>A (ENTREP2) | NP_001374144.1:n.-12-16376G>A | |
| NM_001387216.1:c.-12-16376G>A (ENTREP2) | NP_001374145.1:n.-12-16376G>A | |
| NM_001387217.1:c.-12-16376G>A (ENTREP2) | NP_001374146.1:n.-12-16376G>A | |
| NM_015307.2:c.277-16376G>A (ENTREP2) MANE Select | NP_056122.1:n.277-16376G>A |