Canonical Allele Identifier: CA65565327
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs559542060
gnomAD v3: 2-216033976-G-A
gnomAD v4: 2-216033976-G-A
MyVariant Identifiers: chr2:g.216898699G>A (hg19) chr2:g.216033976G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033976G>A , CM000664.2:g.216033976G>A GRCh38
NC_000002.11:g.216898699G>A , CM000664.1:g.216898699G>A GRCh37
NC_000002.10:g.216606944G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-82C>T (MREG) ENSP00000413302.1:n.-82C>T
ENST00000442122.5:c.*440+5215C>T (PECR) ENSP00000395512.1:n.*440+5215C>T
XR_001738847.2:n.1056-1124C>T (PECR)
NM_001372189.1:c.-82C>T (MREG) NP_001359118.1:n.-82C>T
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