Canonical Allele Identifier: CA2754235724
Gene: MREG HGNC NCBI
PECR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028843C>G , CM000664.2:g.216028843C>G GRCh38
NC_000002.11:g.216893566C>G , CM000664.1:g.216893566C>G GRCh37
NC_000002.10:g.216601811C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000420348.1:c.-68+3946G>C (MREG) ENSP00000404470.1:n.-68+3946G>C
ENST00000424992.5:c.-68+5119G>C (MREG) ENSP00000413302.1:n.-68+5119G>C
ENST00000439791.5:c.-68+4840G>C (MREG) ENSP00000411076.1:n.-68+4840G>C
ENST00000442122.5:c.*440+10348G>C (PECR) ENSP00000395512.1:n.*440+10348G>C
NM_001372189.1:c.-68+5119G>C (MREG) NP_001359118.1:n.-68+5119G>C
NM_001372190.1:c.-68+4840G>C (MREG) NP_001359119.1:n.-68+4840G>C
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