Canonical Allele Identifier: CA2167752
Gene: PRSS56 HGNC NCBI

Linked Data

dbSNP Id: rs779695467
ExAC: 2:233388233 CG / C
gnomAD v2: 2-233388233-CG-C
gnomAD v3: 2-232523523-CG-C
gnomAD v4: 2-232523523-CG-C
MyVariant Identifiers: chr2:g.233388234del (hg19) chr2:g.232523524del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523527del , CM000664.2:g.232523527del GRCh38
NC_000002.11:g.233388237del , CM000664.1:g.233388237del GRCh37
NC_000002.10:g.233096481del NCBI36
NG_008028.1:g.2316del
NG_031969.1:g.8065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.961del MANE Select ENSP00000479745.1:p.Val321SerfsTer16
ENST00000449534.6:c.961del ENSP00000473410.1:p.Val321SerfsTer16
ENST00000617714.1:c.961del ENSP00000479745.1:p.Val321SerfsTer16
NM_001195129.1:c.961del NP_001182058.1:p.Val321SerfsTer16
NM_001195129.2:c.961del MANE Select NP_001182058.1:p.Val321SerfsTer16
NM_001369848.1:c.961del NP_001356777.1:p.Val321SerfsTer16
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