Canonical Allele Identifier: CA764683551
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1176488792
gnomAD v3: 2-216028981-C-T
gnomAD v4: 2-216028981-C-T
MyVariant Identifiers: chr2:g.216893704C>T (hg19) chr2:g.216028981C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028981C>T , CM000664.2:g.216028981C>T GRCh38
NC_000002.11:g.216893704C>T , CM000664.1:g.216893704C>T GRCh37
NC_000002.10:g.216601949C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+3808G>A (MREG) ENSP00000404470.1:n.-68+3808G>A
ENST00000424992.5:c.-68+4981G>A (MREG) ENSP00000413302.1:n.-68+4981G>A
ENST00000439791.5:c.-68+4702G>A (MREG) ENSP00000411076.1:n.-68+4702G>A
ENST00000442122.5:c.*440+10210G>A (PECR) ENSP00000395512.1:n.*440+10210G>A
NM_001372189.1:c.-68+4981G>A (MREG) NP_001359118.1:n.-68+4981G>A
NM_001372190.1:c.-68+4702G>A (MREG) NP_001359119.1:n.-68+4702G>A
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