Canonical Allele Identifier: CA65561111

Gene: MREG PECR

Linked Data

• dbSNP Id: rs532261808
• MyVariant Identifiers: chr2:g.216893525A>G (hg19) ; chr2:g.216028802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216028802A>G , CM000664.2:g.216028802A>G	GRCh38
NC_000002.11:g.216893525A>G , CM000664.1:g.216893525A>G	GRCh37
NC_000002.10:g.216601770A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420348.1:c.-68+3987T>C (MREG)	ENSP00000404470.1:n.-68+3987T>C
ENST00000424992.5:c.-68+5160T>C (MREG)	ENSP00000413302.1:n.-68+5160T>C
ENST00000439791.5:c.-68+4881T>C (MREG)	ENSP00000411076.1:n.-68+4881T>C
ENST00000442122.5:c.*440+10389T>C (PECR)	ENSP00000395512.1:n.*440+10389T>C
NM_001372189.1:c.-68+5160T>C (MREG)	NP_001359118.1:n.-68+5160T>C
NM_001372190.1:c.-68+4881T>C (MREG)	NP_001359119.1:n.-68+4881T>C