Canonical Allele Identifier: CA2167771

Gene: PRSS56

Linked Data

• ClinVar Variation Id: 2040190
• ClinVar RCV Id: RCV002886298
• dbSNP Id: rs545056666
• ExAC: 2:233388560 G / A
• gnomAD v2: 2-233388560-G-A
• gnomAD v3: 2-232523850-G-A
• gnomAD v4: 2-232523850-G-A
• COSMIC: COSN5263175
• MyVariant Identifiers: chr2:g.233388560G>A (hg19) ; chr2:g.232523850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232523850G>A , CM000664.2:g.232523850G>A	GRCh38
NC_000002.11:g.233388560G>A , CM000664.1:g.233388560G>A	GRCh37
NC_000002.10:g.233096804G>A	NCBI36
NG_008028.1:g.2639G>A
NG_031969.1:g.8388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617714.2:c.1091G>A MANE Select	ENSP00000479745.1:p.Arg364Gln
ENST00000449534.6:c.1094G>A	ENSP00000473410.1:p.Arg365Gln
ENST00000617714.1:c.1091G>A	ENSP00000479745.1:p.Arg364Gln
NM_001195129.1:c.1091G>A	NP_001182058.1:p.Arg364Gln
NM_001195129.2:c.1091G>A MANE Select	NP_001182058.1:p.Arg364Gln
NM_001369848.1:c.1094G>A	NP_001356777.1:p.Arg365Gln