Canonical Allele Identifier: CA539546669
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1172293968
gnomAD v2: 2-216898657-A-G
gnomAD v3: 2-216033934-A-G
gnomAD v4: 2-216033934-A-G
MyVariant Identifiers: chr2:g.216898657A>G (hg19) chr2:g.216033934A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033934A>G , CM000664.2:g.216033934A>G GRCh38
NC_000002.11:g.216898657A>G , CM000664.1:g.216898657A>G GRCh37
NC_000002.10:g.216606902A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-68+28T>C (MREG) ENSP00000413302.1:n.-68+28T>C
ENST00000442122.5:c.*440+5257T>C (PECR) ENSP00000395512.1:n.*440+5257T>C
XR_001738847.2:n.1056-1082T>C (PECR)
NM_001372189.1:c.-68+28T>C (MREG) NP_001359118.1:n.-68+28T>C
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