Canonical Allele Identifier: CA66949043
Gene: PRSS56 HGNC NCBI

Linked Data

ClinVar Variation Id: 2349842
ClinVar RCV Id: RCV002977301
dbSNP Id: rs890861977
gnomAD v2: 2-233388559-C-G
gnomAD v3: 2-232523849-C-G
gnomAD v4: 2-232523849-C-G
MyVariant Identifiers: chr2:g.233388559C>G (hg19) chr2:g.232523849C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523849C>G , CM000664.2:g.232523849C>G GRCh38
NC_000002.11:g.233388559C>G , CM000664.1:g.233388559C>G GRCh37
NC_000002.10:g.233096803C>G NCBI36
NG_008028.1:g.2638C>G
NG_031969.1:g.8387C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1090C>G MANE Select ENSP00000479745.1:p.Arg364Gly
ENST00000449534.6:c.1093C>G ENSP00000473410.1:p.Arg365Gly
ENST00000617714.1:c.1090C>G ENSP00000479745.1:p.Arg364Gly
NM_001195129.1:c.1090C>G NP_001182058.1:p.Arg364Gly
NM_001195129.2:c.1090C>G MANE Select NP_001182058.1:p.Arg364Gly
NM_001369848.1:c.1093C>G NP_001356777.1:p.Arg365Gly
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