Canonical Allele Identifier: CA2167765
Gene: PRSS56 HGNC NCBI

Linked Data

ClinVar Variation Id: 1556974
ClinVar RCV Id: RCV002188167 RCV003923503
dbSNP Id: rs540536012
ExAC: 2:233388488 C / T
gnomAD v2: 2-233388488-C-T
gnomAD v3: 2-232523778-C-T
gnomAD v4: 2-232523778-C-T
MyVariant Identifiers: chr2:g.233388488C>T (hg19) chr2:g.232523778C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523778C>T , CM000664.2:g.232523778C>T GRCh38
NC_000002.11:g.233388488C>T , CM000664.1:g.233388488C>T GRCh37
NC_000002.10:g.233096732C>T NCBI36
NG_008028.1:g.2567C>T
NG_031969.1:g.8316C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1019C>T MANE Select ENSP00000479745.1:p.Ser340Phe
ENST00000449534.6:c.1022C>T ENSP00000473410.1:p.Ser341Phe
ENST00000617714.1:c.1019C>T ENSP00000479745.1:p.Ser340Phe
NM_001195129.1:c.1019C>T NP_001182058.1:p.Ser340Phe
NM_001195129.2:c.1019C>T MANE Select NP_001182058.1:p.Ser340Phe
NM_001369848.1:c.1022C>T NP_001356777.1:p.Ser341Phe
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