Canonical Allele Identifier: CA539546668

Gene: MREG PECR

Linked Data

• dbSNP Id: rs1477818649
• gnomAD v2: 2-216898586-A-G
• gnomAD v3: 2-216033863-A-G
• gnomAD v4: 2-216033863-A-G
• MyVariant Identifiers: chr2:g.216898586A>G (hg19) ; chr2:g.216033863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216033863A>G , CM000664.2:g.216033863A>G	GRCh38
NC_000002.11:g.216898586A>G , CM000664.1:g.216898586A>G	GRCh37
NC_000002.10:g.216606831A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000424992.5:c.-68+99T>C (MREG)	ENSP00000413302.1:n.-68+99T>C
ENST00000442122.5:c.*440+5328T>C (PECR)	ENSP00000395512.1:n.*440+5328T>C
XR_001738847.2:n.1056-1011T>C (PECR)
NM_001372189.1:c.-68+99T>C (MREG)	NP_001359118.1:n.-68+99T>C