Canonical Allele Identifier: CA66949032
Gene: PRSS56 HGNC NCBI

Linked Data

dbSNP Id: rs1031574869
gnomAD v2: 2-233388538-G-A
gnomAD v4: 2-232523828-G-A
MyVariant Identifiers: chr2:g.233388538G>A (hg19) chr2:g.232523828G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523828G>A , CM000664.2:g.232523828G>A GRCh38
NC_000002.11:g.233388538G>A , CM000664.1:g.233388538G>A GRCh37
NC_000002.10:g.233096782G>A NCBI36
NG_008028.1:g.2617G>A
NG_031969.1:g.8366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1069G>A MANE Select ENSP00000479745.1:p.Glu357Lys
ENST00000449534.6:c.1072G>A ENSP00000473410.1:p.Glu358Lys
ENST00000617714.1:c.1069G>A ENSP00000479745.1:p.Glu357Lys
NM_001195129.1:c.1069G>A NP_001182058.1:p.Glu357Lys
NM_001195129.2:c.1069G>A MANE Select NP_001182058.1:p.Glu357Lys
NM_001369848.1:c.1072G>A NP_001356777.1:p.Glu358Lys
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