Canonical Allele Identifier: CA350992276
Gene: PRSS56 HGNC NCBI

Linked Data

gnomAD v4: 2-232523826-A-C
MyVariant Identifiers: chr2:g.233388536A>C (hg19) chr2:g.232523826A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523826A>C , CM000664.2:g.232523826A>C GRCh38
NC_000002.11:g.233388536A>C , CM000664.1:g.233388536A>C GRCh37
NC_000002.10:g.233096780A>C NCBI36
NG_008028.1:g.2615A>C
NG_031969.1:g.8364A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1067A>C MANE Select ENSP00000479745.1:p.Gln356Pro
ENST00000449534.6:c.1070A>C ENSP00000473410.1:p.Gln357Pro
ENST00000617714.1:c.1067A>C ENSP00000479745.1:p.Gln356Pro
NM_001195129.1:c.1067A>C NP_001182058.1:p.Gln356Pro
NM_001195129.2:c.1067A>C MANE Select NP_001182058.1:p.Gln356Pro
NM_001369848.1:c.1070A>C NP_001356777.1:p.Gln357Pro
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