Canonical Allele Identifier: CA350991931
Gene: PRSS56 HGNC NCBI

Linked Data

dbSNP Id: rs540536012
gnomAD v2: 2-233388488-C-G
gnomAD v4: 2-232523778-C-G
MyVariant Identifiers: chr2:g.233388488C>G (hg19) chr2:g.232523778C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1019C>G MANE Select ENSP00000479745.1:p.Ser340Cys
ENST00000449534.6:c.1022C>G ENSP00000473410.1:p.Ser341Cys
ENST00000617714.1:c.1019C>G ENSP00000479745.1:p.Ser340Cys
NM_001195129.1:c.1019C>G NP_001182058.1:p.Ser340Cys
NM_001195129.2:c.1019C>G MANE Select NP_001182058.1:p.Ser340Cys
NM_001369848.1:c.1022C>G NP_001356777.1:p.Ser341Cys
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