Canonical Allele Identifier: CA65565099

Gene: MREG PECR

Linked Data

• dbSNP Id: rs905048280
• gnomAD v3: 2-216033765-C-G
• gnomAD v4: 2-216033765-C-G
• MyVariant Identifiers: chr2:g.216898488C>G (hg19) ; chr2:g.216033765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216033765C>G , CM000664.2:g.216033765C>G	GRCh38
NC_000002.11:g.216898488C>G , CM000664.1:g.216898488C>G	GRCh37
NC_000002.10:g.216606733C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424992.5:c.-68+197G>C (MREG)	ENSP00000413302.1:n.-68+197G>C
ENST00000439791.5:c.-150G>C (MREG)	ENSP00000411076.1:n.-150G>C
ENST00000442122.5:c.*440+5426G>C (PECR)	ENSP00000395512.1:n.*440+5426G>C
XR_001738847.2:n.1056-913G>C (PECR)
NM_001372189.1:c.-68+197G>C (MREG)	NP_001359118.1:n.-68+197G>C
NM_001372190.1:c.-150G>C (MREG)	NP_001359119.1:n.-150G>C