Canonical Allele Identifier: CA65565237

Gene: MREG PECR

Linked Data

• dbSNP Id: rs976169440
• gnomAD v2: 2-216898594-T-C
• gnomAD v3: 2-216033871-T-C
• gnomAD v4: 2-216033871-T-C
• MyVariant Identifiers: chr2:g.216898594T>C (hg19) ; chr2:g.216033871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216033871T>C , CM000664.2:g.216033871T>C	GRCh38
NC_000002.11:g.216898594T>C , CM000664.1:g.216898594T>C	GRCh37
NC_000002.10:g.216606839T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000424992.5:c.-68+91A>G (MREG)	ENSP00000413302.1:n.-68+91A>G
ENST00000442122.5:c.*440+5320A>G (PECR)	ENSP00000395512.1:n.*440+5320A>G
XR_001738847.2:n.1056-1019A>G (PECR)
NM_001372189.1:c.-68+91A>G (MREG)	NP_001359118.1:n.-68+91A>G