Canonical Allele Identifier: CA1042294318

Gene: MREG PECR

Linked Data

• dbSNP Id: rs1694748842
• gnomAD v3: 2-216033796-C-G
• gnomAD v4: 2-216033796-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216033796C>G , CM000664.2:g.216033796C>G	GRCh38
NC_000002.11:g.216898519C>G , CM000664.1:g.216898519C>G	GRCh37
NC_000002.10:g.216606764C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000424992.5:c.-68+166G>C (MREG)	ENSP00000413302.1:n.-68+166G>C
ENST00000439791.5:c.-181G>C (MREG)	ENSP00000411076.1:n.-181G>C
ENST00000442122.5:c.*440+5395G>C (PECR)	ENSP00000395512.1:n.*440+5395G>C
XR_001738847.2:n.1056-944G>C (PECR)
NM_001372189.1:c.-68+166G>C (MREG)	NP_001359118.1:n.-68+166G>C
NM_001372190.1:c.-181G>C (MREG)	NP_001359119.1:n.-181G>C