Canonical Allele Identifier: CA350992134
Gene: PRSS56 HGNC NCBI

Linked Data

gnomAD v4: 2-232523808-T-G
MyVariant Identifiers: chr2:g.233388518T>G (hg19) chr2:g.232523808T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232523808T>G , CM000664.2:g.232523808T>G GRCh38
NC_000002.11:g.233388518T>G , CM000664.1:g.233388518T>G GRCh37
NC_000002.10:g.233096762T>G NCBI36
NG_008028.1:g.2597T>G
NG_031969.1:g.8346T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617714.2:c.1049T>G MANE Select ENSP00000479745.1:p.Leu350Arg
ENST00000449534.6:c.1052T>G ENSP00000473410.1:p.Leu351Arg
ENST00000617714.1:c.1049T>G ENSP00000479745.1:p.Leu350Arg
NM_001195129.1:c.1049T>G NP_001182058.1:p.Leu350Arg
NM_001195129.2:c.1049T>G MANE Select NP_001182058.1:p.Leu350Arg
NM_001369848.1:c.1052T>G NP_001356777.1:p.Leu351Arg
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