Canonical Allele Identifier: CA350991961

Gene: PRSS56

Linked Data

• gnomAD v4: 2-232523783-C-T
• MyVariant Identifiers: chr2:g.233388493C>T (hg19) ; chr2:g.232523783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232523783C>T , CM000664.2:g.232523783C>T	GRCh38
NC_000002.11:g.233388493C>T , CM000664.1:g.233388493C>T	GRCh37
NC_000002.10:g.233096737C>T	NCBI36
NG_008028.1:g.2572C>T
NG_031969.1:g.8321C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617714.2:c.1024C>T MANE Select	ENSP00000479745.1:p.Arg342Cys
ENST00000449534.6:c.1027C>T	ENSP00000473410.1:p.Arg343Cys
ENST00000617714.1:c.1024C>T	ENSP00000479745.1:p.Arg342Cys
NM_001195129.1:c.1024C>T	NP_001182058.1:p.Arg342Cys
NM_001195129.2:c.1024C>T MANE Select	NP_001182058.1:p.Arg342Cys
NM_001369848.1:c.1027C>T	NP_001356777.1:p.Arg343Cys