Canonical Allele Identifier: CA65561186
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs776368040
gnomAD v2: 2-216893688-C-T
gnomAD v3: 2-216028965-C-T
gnomAD v4: 2-216028965-C-T
MyVariant Identifiers: chr2:g.216893688C>T (hg19) chr2:g.216028965C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028965C>T , CM000664.2:g.216028965C>T GRCh38
NC_000002.11:g.216893688C>T , CM000664.1:g.216893688C>T GRCh37
NC_000002.10:g.216601933C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+3824G>A (MREG) ENSP00000404470.1:n.-68+3824G>A
ENST00000424992.5:c.-68+4997G>A (MREG) ENSP00000413302.1:n.-68+4997G>A
ENST00000439791.5:c.-68+4718G>A (MREG) ENSP00000411076.1:n.-68+4718G>A
ENST00000442122.5:c.*440+10226G>A (PECR) ENSP00000395512.1:n.*440+10226G>A
NM_001372189.1:c.-68+4997G>A (MREG) NP_001359118.1:n.-68+4997G>A
NM_001372190.1:c.-68+4718G>A (MREG) NP_001359119.1:n.-68+4718G>A
Search 100 bp 5'
Search 100 bp 3'