Canonical Allele Identifier: CA764687417
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1189794303
gnomAD v3: 2-216034042-G-A
gnomAD v4: 2-216034042-G-A
MyVariant Identifiers: chr2:g.216898765G>A (hg19) chr2:g.216034042G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216034042G>A , CM000664.2:g.216034042G>A GRCh38
NC_000002.11:g.216898765G>A , CM000664.1:g.216898765G>A GRCh37
NC_000002.10:g.216607010G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-148C>T (MREG) ENSP00000413302.1:n.-148C>T
ENST00000442122.5:c.*440+5149C>T (PECR) ENSP00000395512.1:n.*440+5149C>T
XR_001738847.2:n.1056-1190C>T (PECR)
NM_001372189.1:c.-148C>T (MREG) NP_001359118.1:n.-148C>T
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