Canonical Allele Identifier: CA764687374
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1403473688
MyVariant Identifiers: chr2:g.216898595A>C (hg19) chr2:g.216033872A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033872A>C , CM000664.2:g.216033872A>C GRCh38
NC_000002.11:g.216898595A>C , CM000664.1:g.216898595A>C GRCh37
NC_000002.10:g.216606840A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-68+90T>G (MREG) ENSP00000413302.1:n.-68+90T>G
ENST00000442122.5:c.*440+5319T>G (PECR) ENSP00000395512.1:n.*440+5319T>G
XR_001738847.2:n.1056-1020T>G (PECR)
NM_001372189.1:c.-68+90T>G (MREG) NP_001359118.1:n.-68+90T>G
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