Canonical Allele Identifier: CA2167665

Gene: PRSS56

Linked Data

• ClinVar Variation Id: 2777777
• ClinVar RCV Id: RCV003641122
• dbSNP Id: rs2697778
• ExAC: 2:233385321 G / A
• gnomAD v2: 2-233385321-G-A
• gnomAD v3: 2-232520611-G-A
• gnomAD v4: 2-232520611-G-A
• MyVariant Identifiers: chr2:g.233385321G>A (hg19) ; chr2:g.233385321_233385324delinsATGC (hg19) ; chr2:g.232520611G>A (hg38) ; chr2:g.232520611_232520614delinsATGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232520611G>A , CM000664.2:g.232520611G>A	GRCh38
NC_000002.11:g.233385321G>A , CM000664.1:g.233385321G>A	GRCh37
NC_000002.10:g.233093565G>A	NCBI36
NG_031969.1:g.5149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617714.2:c.13G>A MANE Select	ENSP00000479745.1:p.Val5Met
ENST00000449534.6:c.13G>A	ENSP00000473410.1:p.Val5Met
ENST00000617714.1:c.13G>A	ENSP00000479745.1:p.Val5Met
NM_001195129.1:c.13G>A	NP_001182058.1:p.Val5Met
NM_001195129.2:c.13G>A MANE Select	NP_001182058.1:p.Val5Met
NM_001369848.1:c.13G>A	NP_001356777.1:p.Val5Met