Canonical Allele Identifier: CA539546661

Gene: MREG PECR

Linked Data

• dbSNP Id: rs1333068741
• gnomAD v2: 2-216898459-T-A
• gnomAD v3: 2-216033736-T-A
• gnomAD v4: 2-216033736-T-A
• MyVariant Identifiers: chr2:g.216898459T>A (hg19) ; chr2:g.216033736T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216033736T>A , CM000664.2:g.216033736T>A	GRCh38
NC_000002.11:g.216898459T>A , CM000664.1:g.216898459T>A	GRCh37
NC_000002.10:g.216606704T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424992.5:c.-68+226A>T (MREG)	ENSP00000413302.1:n.-68+226A>T
ENST00000439791.5:c.-121A>T (MREG)	ENSP00000411076.1:n.-121A>T
ENST00000442122.5:c.*440+5455A>T (PECR)	ENSP00000395512.1:n.*440+5455A>T
XR_001738847.2:n.1056-884A>T (PECR)
NM_001372189.1:c.-68+226A>T (MREG)	NP_001359118.1:n.-68+226A>T
NM_001372190.1:c.-121A>T (MREG)	NP_001359119.1:n.-121A>T