Canonical Allele Identifier: CA2663016672

Gene: MREG PECR

Linked Data

• gnomAD v4: 2-216033737-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216033737C>T , CM000664.2:g.216033737C>T	GRCh38
NC_000002.11:g.216898460C>T , CM000664.1:g.216898460C>T	GRCh37
NC_000002.10:g.216606705C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000424992.5:c.-68+225G>A (MREG)	ENSP00000413302.1:n.-68+225G>A
ENST00000439791.5:c.-122G>A (MREG)	ENSP00000411076.1:n.-122G>A
ENST00000442122.5:c.*440+5454G>A (PECR)	ENSP00000395512.1:n.*440+5454G>A
XR_001738847.2:n.1056-885G>A (PECR)
NM_001372189.1:c.-68+225G>A (MREG)	NP_001359118.1:n.-68+225G>A
NM_001372190.1:c.-122G>A (MREG)	NP_001359119.1:n.-122G>A