Canonical Allele Identifier: CA764687398
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1224761218
gnomAD v4: 2-216033942-C-T
MyVariant Identifiers: chr2:g.216898665C>T (hg19) chr2:g.216033942C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033942C>T , CM000664.2:g.216033942C>T GRCh38
NC_000002.11:g.216898665C>T , CM000664.1:g.216898665C>T GRCh37
NC_000002.10:g.216606910C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-68+20G>A (MREG) ENSP00000413302.1:n.-68+20G>A
ENST00000442122.5:c.*440+5249G>A (PECR) ENSP00000395512.1:n.*440+5249G>A
XR_001738847.2:n.1056-1090G>A (PECR)
NM_001372189.1:c.-68+20G>A (MREG) NP_001359118.1:n.-68+20G>A
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