Canonical Allele Identifier: CA2663016705

Gene: MREG PECR

Linked Data

• gnomAD v4: 2-216033798-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216033798C>A , CM000664.2:g.216033798C>A	GRCh38
NC_000002.11:g.216898521C>A , CM000664.1:g.216898521C>A	GRCh37
NC_000002.10:g.216606766C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424992.5:c.-68+164G>T (MREG)	ENSP00000413302.1:n.-68+164G>T
ENST00000439791.5:c.-183G>T (MREG)	ENSP00000411076.1:n.-183G>T
ENST00000442122.5:c.*440+5393G>T (PECR)	ENSP00000395512.1:n.*440+5393G>T
XR_001738847.2:n.1056-946G>T (PECR)
NM_001372189.1:c.-68+164G>T (MREG)	NP_001359118.1:n.-68+164G>T
NM_001372190.1:c.-183G>T (MREG)	NP_001359119.1:n.-183G>T