Linked Data
ClinVar Variation Id:
437946
dbSNP Id:
rs199830550
ExAC:
16:57282556 G / A
gnomAD v2:
16-57282556-G-A
gnomAD v3:
16-57248644-G-A
gnomAD v4:
16-57248644-G-A
COSMIC:
COSM5032156
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57248644G>A , CM000678.2:g.57248644G>A | GRCh38 |
| NC_000016.9:g.57282556G>A , CM000678.1:g.57282556G>A | GRCh37 |
| NC_000016.8:g.55840057G>A | NCBI36 |
| NG_033905.1:g.8519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219204.8:c.207+1G>A (ARL2BP) MANE Select | ENSP00000219204.3:n.207+1G>A | |
| ENST00000219204.7:c.207+1G>A (ARL2BP) | ENSP00000219204.3:n.207+1G>A | |
| ENST00000562023.5:c.101-1136G>A (ARL2BP) | ENSP00000457465.1:n.101-1136G>A | |
| ENST00000563234.1:c.199+1G>A (ARL2BP) | ||
| ENST00000564376.1:n.321-18C>T (PLLP) | ||
| NM_012106.3:c.207+1G>A (ARL2BP) | NP_036238.1:n.207+1G>A | |
| XM_011522977.1:c.111+1G>A (ARL2BP) | XP_011521279.1:n.111+1G>A | |
| NM_012106.4:c.207+1G>A (ARL2BP) MANE Select | NP_036238.1:n.207+1G>A |