Canonical Allele Identifier: CA2663016682

Gene: MREG PECR

Linked Data

• gnomAD v4: 2-216033758-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216033758A>G , CM000664.2:g.216033758A>G	GRCh38
NC_000002.11:g.216898481A>G , CM000664.1:g.216898481A>G	GRCh37
NC_000002.10:g.216606726A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000424992.5:c.-68+204T>C (MREG)	ENSP00000413302.1:n.-68+204T>C
ENST00000439791.5:c.-143T>C (MREG)	ENSP00000411076.1:n.-143T>C
ENST00000442122.5:c.*440+5433T>C (PECR)	ENSP00000395512.1:n.*440+5433T>C
XR_001738847.2:n.1056-906T>C (PECR)
NM_001372189.1:c.-68+204T>C (MREG)	NP_001359118.1:n.-68+204T>C
NM_001372190.1:c.-143T>C (MREG)	NP_001359119.1:n.-143T>C