Canonical Allele Identifier: CA350991745

Gene: PRSS56

Linked Data

• dbSNP Id: rs1691333191
• gnomAD v4: 2-232523579-G-T
• MyVariant Identifiers: chr2:g.233388289G>T (hg19) ; chr2:g.232523579G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232523579G>T , CM000664.2:g.232523579G>T	GRCh38
NC_000002.11:g.233388289G>T , CM000664.1:g.233388289G>T	GRCh37
NC_000002.10:g.233096533G>T	NCBI36
NG_008028.1:g.2368G>T
NG_031969.1:g.8117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617714.2:c.1012+1G>T MANE Select	ENSP00000479745.1:n.1012+1G>T
ENST00000449534.6:c.1012+1G>T	ENSP00000473410.1:n.1012+1G>T
ENST00000617714.1:c.1012+1G>T	ENSP00000479745.1:n.1012+1G>T
NM_001195129.1:c.1012+1G>T	NP_001182058.1:n.1012+1G>T
NM_001195129.2:c.1012+1G>T MANE Select	NP_001182058.1:n.1012+1G>T
NM_001369848.1:c.1012+1G>T	NP_001356777.1:n.1012+1G>T