Canonical Allele Identifier: CA2167766

Gene: PRSS56

Linked Data

• ClinVar Variation Id: 1368444
• ClinVar RCV Id: RCV001874413 ; RCV002551028
• dbSNP Id: rs764526661
• ExAC: 2:233388529 C / G
• gnomAD v2: 2-233388529-C-G
• gnomAD v3: 2-232523819-C-G
• gnomAD v4: 2-232523819-C-G
• MyVariant Identifiers: chr2:g.233388529C>G (hg19) ; chr2:g.232523819C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232523819C>G , CM000664.2:g.232523819C>G	GRCh38
NC_000002.11:g.233388529C>G , CM000664.1:g.233388529C>G	GRCh37
NC_000002.10:g.233096773C>G	NCBI36
NG_008028.1:g.2608C>G
NG_031969.1:g.8357C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617714.2:c.1060C>G MANE Select	ENSP00000479745.1:p.Pro354Ala
ENST00000449534.6:c.1063C>G	ENSP00000473410.1:p.Pro355Ala
ENST00000617714.1:c.1060C>G	ENSP00000479745.1:p.Pro354Ala
NM_001195129.1:c.1060C>G	NP_001182058.1:p.Pro354Ala
NM_001195129.2:c.1060C>G MANE Select	NP_001182058.1:p.Pro354Ala
NM_001369848.1:c.1063C>G	NP_001356777.1:p.Pro355Ala