Canonical Allele Identifier: CA2663016677
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

gnomAD v4: 2-216033746-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033746G>C , CM000664.2:g.216033746G>C GRCh38
NC_000002.11:g.216898469G>C , CM000664.1:g.216898469G>C GRCh37
NC_000002.10:g.216606714G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-68+216C>G (MREG) ENSP00000413302.1:n.-68+216C>G
ENST00000439791.5:c.-131C>G (MREG) ENSP00000411076.1:n.-131C>G
ENST00000442122.5:c.*440+5445C>G (PECR) ENSP00000395512.1:n.*440+5445C>G
XR_001738847.2:n.1056-894C>G (PECR)
NM_001372189.1:c.-68+216C>G (MREG) NP_001359118.1:n.-68+216C>G
NM_001372190.1:c.-131C>G (MREG) NP_001359119.1:n.-131C>G
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