Canonical Allele Identifier: CA764683537
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1404653007
gnomAD v3: 2-216028978-T-C
gnomAD v4: 2-216028978-T-C
MyVariant Identifiers: chr2:g.216893701T>C (hg19) chr2:g.216028978T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028978T>C , CM000664.2:g.216028978T>C GRCh38
NC_000002.11:g.216893701T>C , CM000664.1:g.216893701T>C GRCh37
NC_000002.10:g.216601946T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+3811A>G (MREG) ENSP00000404470.1:n.-68+3811A>G
ENST00000424992.5:c.-68+4984A>G (MREG) ENSP00000413302.1:n.-68+4984A>G
ENST00000439791.5:c.-68+4705A>G (MREG) ENSP00000411076.1:n.-68+4705A>G
ENST00000442122.5:c.*440+10213A>G (PECR) ENSP00000395512.1:n.*440+10213A>G
NM_001372189.1:c.-68+4984A>G (MREG) NP_001359118.1:n.-68+4984A>G
NM_001372190.1:c.-68+4705A>G (MREG) NP_001359119.1:n.-68+4705A>G
Search 100 bp 5'
Search 100 bp 3'