Linked Data
dbSNP Id:
rs1315770168
gnomAD v3:
7-142774138-G-A
gnomAD v4:
7-142774138-G-A
MyVariant Identifiers:
chr7:g.142774138G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142774138G>A , CM000669.2:g.142774138G>A | GRCh38 |
| NC_000007.13:g.142481997G>A , CM000669.1:g.142481997G>A | GRCh37 |
| NC_000007.12:g.142181941G>A | NCBI36 |
| NG_008322.2:g.8196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539842.6:c.591+83G>A (PRSS2) MANE Select | ENSP00000488338.1:n.591+83G>A | |
| ENST00000539842.5:c.591+83G>A (PRSS2) | ENSP00000488338.1:n.591+83G>A | |
| ENST00000610416.2:c.371-12900G>A (TRBC1) | ENSP00000482915.1:n.371-12900G>A | |
| ENST00000618750.2:n.424+100G>A (PRSS2) | ||
| ENST00000632805.1:c.588+83G>A (PRSS2) | ENSP00000488077.1:n.588+83G>A | |
| ENST00000632998.1:c.591+83G>A (PRSS2) | ENSP00000488789.1:n.591+83G>A | |
| ENST00000633114.1:c.597+83G>A (PRSS2) | ENSP00000487822.1:n.597+83G>A | |
| ENST00000633969.1:c.633+83G>A (PRSS2) | ENSP00000488437.1:n.633+83G>A | |
| ENST00000634019.1:c.633+83G>A (PRSS2) | ENSP00000488594.1:n.633+83G>A | |
| NM_001303414.1:c.633+83G>A (PRSS2) | NP_001290343.1:n.633+83G>A | |
| NM_002770.3:c.591+83G>A (PRSS2) | NP_002761.1:n.591+83G>A | |
| NR_130149.1:n.557+83G>A (PRSS2) | ||
| NM_002770.4:c.591+83G>A (PRSS2) MANE Select | NP_002761.1:n.591+83G>A | |
| NR_130149.2:n.530+83G>A (PRSS2) | ||
| NM_001303414.2:c.633+83G>A (PRSS2) | NP_001290343.1:n.633+83G>A |