Canonical Allele Identifier: CA1327642245
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1694635721
gnomAD v3: 2-216028777-G-A
gnomAD v4: 2-216028777-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028777G>A , CM000664.2:g.216028777G>A GRCh38
NC_000002.11:g.216893500G>A , CM000664.1:g.216893500G>A GRCh37
NC_000002.10:g.216601745G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+4012C>T (MREG) ENSP00000404470.1:n.-68+4012C>T
ENST00000424992.5:c.-68+5185C>T (MREG) ENSP00000413302.1:n.-68+5185C>T
ENST00000439791.5:c.-68+4906C>T (MREG) ENSP00000411076.1:n.-68+4906C>T
ENST00000442122.5:c.*440+10414C>T (PECR) ENSP00000395512.1:n.*440+10414C>T
NM_001372189.1:c.-68+5185C>T (MREG) NP_001359118.1:n.-68+5185C>T
NM_001372190.1:c.-68+4906C>T (MREG) NP_001359119.1:n.-68+4906C>T
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