Canonical Allele Identifier: CA129650

Gene: PRSS56

Linked Data

• ClinVar Variation Id: 31077
• ClinVar RCV Id: RCV000024073 ; RCV001008778 ; RCV001195301 ; RCV003407359
• dbSNP Id: rs730882064
• ExAC: 2:233388527 A / AC
• gnomAD v2: 2-233388527-A-AC
• gnomAD v3: 2-232523817-A-AC
• gnomAD v4: 2-232523817-A-AC
• COSMIC: COSN20080373
• MyVariant Identifiers: chr2:g.233388535dupC (hg19) ; chr2:g.233388528_233388529insC (hg19) ; chr2:g.233388527_233388528insC (hg19) ; chr2:g.232523825dupC (hg38) ; chr2:g.232523818_232523819insC (hg38) ; chr2:g.232523817_232523818insC (hg38)
• PubMed: PMID:19526372 ; PMID:21397065 ; PMID:21532570 ; PMID:21670352 ; PMID:23127749

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232523825dup , CM000664.2:g.232523825dup	GRCh38
NC_000002.11:g.233388535dup , CM000664.1:g.233388535dup	GRCh37
NC_000002.10:g.233096779dup	NCBI36
NG_008028.1:g.2614dup
NG_031969.1:g.8363dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617714.2:c.1066dup MANE Select	ENSP00000479745.1:p.Gln356ProfsTer?
ENST00000449534.6:c.1069dup	ENSP00000473410.1:p.Gln357ProfsTer?
ENST00000617714.1:c.1066dup	ENSP00000479745.1:p.Gln356ProfsTer?
NM_001195129.1:c.1066dup	NP_001182058.1:p.Gln356ProfsTer?
NM_001195129.2:c.1066dup MANE Select	NP_001182058.1:p.Gln356ProfsTer?
NM_001369848.1:c.1069dup	NP_001356777.1:p.Gln357ProfsTer?