Canonical Allele Identifier: CA350992547

Gene: PRSS56

Linked Data

• MyVariant Identifiers: chr2:g.233388571T>G (hg19) ; chr2:g.232523861T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232523861T>G , CM000664.2:g.232523861T>G	GRCh38
NC_000002.11:g.233388571T>G , CM000664.1:g.233388571T>G	GRCh37
NC_000002.10:g.233096815T>G	NCBI36
NG_008028.1:g.2650T>G
NG_031969.1:g.8399T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617714.2:c.1102T>G MANE Select	ENSP00000479745.1:p.Phe368Val
ENST00000449534.6:c.1105T>G	ENSP00000473410.1:p.Phe369Val
ENST00000617714.1:c.1102T>G	ENSP00000479745.1:p.Phe368Val
NM_001195129.1:c.1102T>G	NP_001182058.1:p.Phe368Val
NM_001195129.2:c.1102T>G MANE Select	NP_001182058.1:p.Phe368Val
NM_001369848.1:c.1105T>G	NP_001356777.1:p.Phe369Val