Linked Data
ClinVar Variation Id:
8070
ClinVar RCV Id:
RCV000008536
dbSNP Id:
rs61734659
gnomAD v3:
7-142774035-G-A
gnomAD v4:
7-142774035-G-A
PubMed:
PMID:16699518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142774035G>A , CM000669.2:g.142774035G>A | GRCh38 |
| NC_000007.13:g.142481892G>A , CM000669.1:g.142481892G>A | GRCh37 |
| NC_000007.12:g.142181838G>A | NCBI36 |
| NG_008322.2:g.8093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539842.6:c.571G>A (PRSS2) MANE Select | ENSP00000488338.1:p.Gly191Arg | |
| ENST00000539842.5:c.571G>A (PRSS2) | ENSP00000488338.1:p.Gly191Arg | |
| ENST00000610416.2:c.371-13003G>A (TRBC1) | ENSP00000482915.1:n.371-13003G>A | |
| ENST00000618750.2:n.421G>A (PRSS2) | ||
| ENST00000632805.1:c.568G>A (PRSS2) | ENSP00000488077.1:p.Gly190Arg | |
| ENST00000632998.1:c.571G>A (PRSS2) | ENSP00000488789.1:p.Gly191Arg | |
| ENST00000633114.1:c.577G>A (PRSS2) | ENSP00000487822.1:p.Gly193Arg | |
| ENST00000633969.1:c.613G>A (PRSS2) | ENSP00000488437.1:p.Gly205Arg | |
| ENST00000634019.1:c.613G>A (PRSS2) | ENSP00000488594.1:p.Gly205Arg | |
| NM_001303414.1:c.613G>A (PRSS2) | NP_001290343.1:p.Gly205Arg | |
| NM_002770.3:c.571G>A (PRSS2) | NP_002761.1:p.Gly191Arg | |
| NR_130149.1:n.537G>A (PRSS2) | ||
| NM_002770.4:c.571G>A (PRSS2) MANE Select | NP_002761.1:p.Gly191Arg | |
| NR_130149.2:n.510G>A (PRSS2) | ||
| NM_001303414.2:c.613G>A (PRSS2) | NP_001290343.1:p.Gly205Arg |