Canonical Allele Identifier: CA186010
Gene: PRSS56 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232525249G>A
GRCh37 chr2:g.233389959G>A
gnomAD v3:
2:232525249 G / A
gnomAD v4:
chr2-232525249-G-A
Joint Max Group AF 0.0000019 (NFE)
Exomes Max Group AF 0.00000202 (NFE)
ClinVar RCV:
RCV000162043
ClinVar Variation:
183175
dbSNP:
730882162
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232525249G>A , CM000664.2:g.232525249G>A GRCh38
NC_000002.11:g.233389959G>A , CM000664.1:g.233389959G>A GRCh37
NC_000002.10:g.233098203G>A NCBI36
NG_008028.1:g.4038G>A
NG_031969.1:g.9787G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1555G>A MANE Select ENSP00000479745.1:p.Gly519Arg
ENST00000449534.6:c.1558G>A ENSP00000473410.1:p.Gly520Arg
ENST00000617714.1:c.1555G>A ENSP00000479745.1:p.Gly519Arg
NM_001195129.1:c.1555G>A NP_001182058.1:p.Gly519Arg
NM_001195129.2:c.1555G>A MANE Select NP_001182058.1:p.Gly519Arg
NM_001369848.1:c.1558G>A NP_001356777.1:p.Gly520Arg
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