gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57249857G>A , CM000678.2:g.57249857G>A | GRCh38 |
| NC_000016.9:g.57283769G>A , CM000678.1:g.57283769G>A | GRCh37 |
| NC_000016.8:g.55841270G>A | NCBI36 |
| NG_033905.1:g.9732G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219204.8:c.293+5G>A (ARL2BP) MANE Select | ENSP00000219204.3:n.293+5G>A | |
| ENST00000219204.7:c.293+5G>A (ARL2BP) | ENSP00000219204.3:n.293+5G>A | |
| ENST00000562023.5:c.173+5G>A (ARL2BP) | ENSP00000457465.1:n.173+5G>A | |
| ENST00000563234.1:c.285+5G>A (ARL2BP) | ||
| ENST00000564376.1:n.321-1231C>T (PLLP) | ||
| ENST00000613167.4:c.*6153C>T (PLLP) | ENSP00000481720.1:n.*6153C>T | |
| NM_012106.3:c.293+5G>A (ARL2BP) | NP_036238.1:n.293+5G>A | |
| XM_011522977.1:c.197+5G>A (ARL2BP) | XP_011521279.1:n.197+5G>A | |
| NM_012106.4:c.293+5G>A (ARL2BP) MANE Select | NP_036238.1:n.293+5G>A |