Canonical Allele Identifier: CA65565259

Gene: MREG PECR

Linked Data

• dbSNP Id: rs988832898
• gnomAD v3: 2-216033912-G-T
• gnomAD v4: 2-216033912-G-T
• MyVariant Identifiers: chr2:g.216898635G>T (hg19) ; chr2:g.216033912G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216033912G>T , CM000664.2:g.216033912G>T	GRCh38
NC_000002.11:g.216898635G>T , CM000664.1:g.216898635G>T	GRCh37
NC_000002.10:g.216606880G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000424992.5:c.-68+50C>A (MREG)	ENSP00000413302.1:n.-68+50C>A
ENST00000442122.5:c.*440+5279C>A (PECR)	ENSP00000395512.1:n.*440+5279C>A
XR_001738847.2:n.1056-1060C>A (PECR)
NM_001372189.1:c.-68+50C>A (MREG)	NP_001359118.1:n.-68+50C>A