Canonical Allele Identifier: CA129651
Gene: PRSS56 HGNC NCBI

Linked Data

ClinVar Variation Id: 31078
ClinVar RCV Id: RCV001610296
dbSNP Id: rs61744404
ExAC: 2:233390199 C / G
gnomAD v2: 2-233390199-C-G
gnomAD v3: 2-232525489-C-G
gnomAD v4: 2-232525489-C-G
MyVariant Identifiers: chr2:g.233390199C>G (hg19) chr2:g.232525489C>G (hg38)
PubMed: PMID:19526372 PMID:21532570
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232525489C>G , CM000664.2:g.232525489C>G GRCh38
NC_000002.11:g.233390199C>G , CM000664.1:g.233390199C>G GRCh37
NC_000002.10:g.233098443C>G NCBI36
NG_008028.1:g.4278C>G
NG_031969.1:g.10027C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000617714.2:c.1795C>G MANE Select ENSP00000479745.1:p.Pro599Ala
ENST00000449534.6:c.1798C>G ENSP00000473410.1:p.Pro600Ala
ENST00000617714.1:c.1795C>G ENSP00000479745.1:p.Pro599Ala
NM_001195129.1:c.1795C>G NP_001182058.1:p.Pro599Ala
NM_001195129.2:c.1795C>G MANE Select NP_001182058.1:p.Pro599Ala
NM_001369848.1:c.1798C>G NP_001356777.1:p.Pro600Ala
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