Revel Score:
ENST00000233607
0.072
ENST00000238483
0.072
ENST00000535453
0.072
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1467462C>A , CM000681.2:g.1467462C>A | GRCh38 |
| NC_000019.9:g.1467461C>A , CM000681.1:g.1467461C>A | GRCh37 |
| NC_000019.8:g.1418461C>A | NCBI36 |
| NG_055243.1:g.26195C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590469.6:c.4161C>A (APC2) MANE Select | ENSP00000467073.2:p.Asp1387Glu | |
| ENST00000233607.6:c.4161C>A (APC2) | ENSP00000233607.2:p.Asp1387Glu | |
| ENST00000535453.5:c.4161C>A (APC2) | ENSP00000442954.1:p.Asp1387Glu | |
| ENST00000588427.5:c.131-5638G>T (C19orf25) | ENSP00000468000.1:n.131-5638G>T | |
| NM_005883.2:c.4161C>A (APC2) | NP_005874.1:p.Asp1387Glu | |
| XM_005259475.2:c.4233C>A (APC2) | XP_005259532.1:p.Asp1411Glu | |
| XM_006722607.2:c.4230C>A (APC2) | XP_006722670.1:p.Asp1410Glu | |
| XM_006722608.2:c.4161C>A (APC2) | XP_006722671.1:p.Asp1387Glu | |
| XM_006722609.2:c.4161C>A (APC2) | XP_006722672.1:p.Asp1387Glu | |
| XM_006722610.2:c.4158C>A (APC2) | XP_006722673.1:p.Asp1386Glu | |
| NM_001351273.1:c.4158C>A (APC2) | NP_001338202.1:p.Asp1386Glu | |
| XM_006722608.3:c.4464C>A (APC2) | XP_006722671.2:p.Asp1488Glu | |
| XM_006722609.3:c.4161C>A (APC2) | XP_006722672.1:p.Asp1387Glu | |
| XM_006722610.3:c.4461C>A (APC2) | XP_006722673.2:p.Asp1487Glu | |
| NM_005883.3:c.4161C>A (APC2) MANE Select | NP_005874.1:p.Asp1387Glu |