Canonical Allele Identifier: CA65565090
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs145067555
gnomAD v2: 2-216898476-T-C
gnomAD v3: 2-216033753-T-C
gnomAD v4: 2-216033753-T-C
MyVariant Identifiers: chr2:g.216898476T>C (hg19) chr2:g.216033753T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033753T>C , CM000664.2:g.216033753T>C GRCh38
NC_000002.11:g.216898476T>C , CM000664.1:g.216898476T>C GRCh37
NC_000002.10:g.216606721T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-68+209A>G (MREG) ENSP00000413302.1:n.-68+209A>G
ENST00000439791.5:c.-138A>G (MREG) ENSP00000411076.1:n.-138A>G
ENST00000442122.5:c.*440+5438A>G (PECR) ENSP00000395512.1:n.*440+5438A>G
XR_001738847.2:n.1056-901A>G (PECR)
NM_001372189.1:c.-68+209A>G (MREG) NP_001359118.1:n.-68+209A>G
NM_001372190.1:c.-138A>G (MREG) NP_001359119.1:n.-138A>G
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