Linked Data
dbSNP Id:
rs962508539
gnomAD v2:
7-142482145-G-C
gnomAD v4:
7-142774285-G-C
MyVariant Identifiers:
chr7:g.142482145G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142774285G>C , CM000669.2:g.142774285G>C | GRCh38 |
| NC_000007.13:g.142482145G>C , CM000669.1:g.142482145G>C | GRCh37 |
| NC_000007.12:g.142182088G>C | NCBI36 |
| NG_008322.2:g.8343G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539842.6:c.592-71G>C (PRSS2) MANE Select | ENSP00000488338.1:n.592-71G>C | |
| ENST00000539842.5:c.592-71G>C (PRSS2) | ENSP00000488338.1:n.592-71G>C | |
| ENST00000610416.2:c.371-12753G>C (TRBC1) | ENSP00000482915.1:n.371-12753G>C | |
| ENST00000618750.2:n.425-71G>C (PRSS2) | ||
| ENST00000632805.1:c.589-71G>C (PRSS2) | ENSP00000488077.1:n.589-71G>C | |
| ENST00000632998.1:c.592-71G>C (PRSS2) | ENSP00000488789.1:n.592-71G>C | |
| ENST00000633114.1:c.598-71G>C (PRSS2) | ENSP00000487822.1:n.598-71G>C | |
| ENST00000633969.1:c.634-71G>C (PRSS2) | ENSP00000488437.1:n.634-71G>C | |
| ENST00000634019.1:c.634-71G>C (PRSS2) | ENSP00000488594.1:n.634-71G>C | |
| NM_001303414.1:c.634-71G>C (PRSS2) | NP_001290343.1:n.634-71G>C | |
| NM_002770.3:c.592-71G>C (PRSS2) | NP_002761.1:n.592-71G>C | |
| NR_130149.1:n.558-71G>C (PRSS2) | ||
| NM_002770.4:c.592-71G>C (PRSS2) MANE Select | NP_002761.1:n.592-71G>C | |
| NR_130149.2:n.531-71G>C (PRSS2) | ||
| NM_001303414.2:c.634-71G>C (PRSS2) | NP_001290343.1:n.634-71G>C |