Canonical Allele Identifier: CA764683467
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1192879417
gnomAD v3: 2-216028913-A-G
gnomAD v4: 2-216028913-A-G
MyVariant Identifiers: chr2:g.216893636A>G (hg19) chr2:g.216028913A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028913A>G , CM000664.2:g.216028913A>G GRCh38
NC_000002.11:g.216893636A>G , CM000664.1:g.216893636A>G GRCh37
NC_000002.10:g.216601881A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+3876T>C (MREG) ENSP00000404470.1:n.-68+3876T>C
ENST00000424992.5:c.-68+5049T>C (MREG) ENSP00000413302.1:n.-68+5049T>C
ENST00000439791.5:c.-68+4770T>C (MREG) ENSP00000411076.1:n.-68+4770T>C
ENST00000442122.5:c.*440+10278T>C (PECR) ENSP00000395512.1:n.*440+10278T>C
NM_001372189.1:c.-68+5049T>C (MREG) NP_001359118.1:n.-68+5049T>C
NM_001372190.1:c.-68+4770T>C (MREG) NP_001359119.1:n.-68+4770T>C
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