gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67833455 (MID)
Genomes Max Group AF
0.67024068 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32159700C>A , CM000668.2:g.32159700C>A | GRCh38 |
| NC_000006.11:g.32127477C>A , CM000668.1:g.32127477C>A | GRCh37 |
| NC_000006.10:g.32235455C>A | NCBI36 |
| NG_042283.1:g.11249C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324816.11:c.710+1776C>A (PPT2) MANE Select | ENSP00000320528.6:n.710+1776C>A | |
| ENST00000324816.10:c.710+1776C>A (PPT2) | ENSP00000320528.6:n.710+1776C>A | |
| ENST00000361568.6:c.728+1776C>A (PPT2) | ENSP00000354608.2:n.728+1776C>A | |
| ENST00000375137.6:c.710+1776C>A (PPT2) | ENSP00000364279.2:n.710+1776C>A | |
| ENST00000375143.6:c.710+1776C>A (PPT2) | ENSP00000364285.2:n.710+1776C>A | |
| ENST00000395523.5:c.710+1776C>A (PPT2) | ENSP00000378894.1:n.710+1776C>A | |
| ENST00000421600.2:c.169+1776C>A (PPT2-EGFL8) | ||
| ENST00000422437.5:c.710+1776C>A (PPT2-EGFL8) | ENSP00000457534.1:n.710+1776C>A | |
| ENST00000428388.6:c.710+1776C>A (PPT2-EGFL8) | ENSP00000455087.1:n.710+1776C>A | |
| ENST00000453656.6:n.841+1776C>A (PPT2-EGFL8) | ||
| ENST00000479001.2:n.695+1776C>A (PPT2-EGFL8) | ||
| ENST00000493548.5:n.761+1980C>A (PPT2) | ||
| ENST00000583227.5:c.*262+1776C>A (PPT2-EGFL8) | ENSP00000461909.1:n.*262+1776C>A | |
| ENST00000585246.5:c.*262+1776C>A (PPT2-EGFL8) | ENSP00000463570.1:n.*262+1776C>A | |
| NM_001204103.1:c.710+1776C>A (PPT2) | NP_001191032.1:n.710+1776C>A | |
| NM_005155.6:c.710+1776C>A (PPT2) | NP_005146.4:n.710+1776C>A | |
| NM_138717.2:c.728+1776C>A (PPT2) | NP_619731.2:n.728+1776C>A | |
| NR_037861.1:n.1124+1776C>A (PPT2-EGFL8) | ||
| NM_005155.7:c.710+1776C>A (PPT2) MANE Select | NP_005146.4:n.710+1776C>A | |
| NM_001204103.2:c.710+1776C>A (PPT2) | NP_001191032.1:n.710+1776C>A | |
| NM_138717.3:c.728+1776C>A (PPT2) | NP_619731.2:n.728+1776C>A |