Canonical Allele Identifier: CA65561192
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs913099160
gnomAD v3: 2-216028975-GT-G
gnomAD v4: 2-216028975-GT-G
MyVariant Identifiers: chr2:g.216893699del (hg19) chr2:g.216028976del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028979del , CM000664.2:g.216028979del GRCh38
NC_000002.11:g.216893702del , CM000664.1:g.216893702del GRCh37
NC_000002.10:g.216601947del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+3813del (MREG) ENSP00000404470.1:n.-68+3813del
ENST00000424992.5:c.-68+4986del (MREG) ENSP00000413302.1:n.-68+4986del
ENST00000439791.5:c.-68+4707del (MREG) ENSP00000411076.1:n.-68+4707del
ENST00000442122.5:c.*440+10215del (PECR) ENSP00000395512.1:n.*440+10215del
NM_001372189.1:c.-68+4986del (MREG) NP_001359118.1:n.-68+4986del
NM_001372190.1:c.-68+4707del (MREG) NP_001359119.1:n.-68+4707del
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