Canonical Allele Identifier: CA764687306
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1424198688
MyVariant Identifiers: chr2:g.216898515_216898516del (hg19) chr2:g.216033792_216033793del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033795_216033796del , CM000664.2:g.216033795_216033796del GRCh38
NC_000002.11:g.216898518_216898519del , CM000664.1:g.216898518_216898519del GRCh37
NC_000002.10:g.216606763_216606764del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424992.5:c.-68+169_-68+170del (MREG) ENSP00000413302.1:n.-68+169_-68+170del
ENST00000439791.5:c.-178_-177del (MREG) ENSP00000411076.1:n.-178_-177del
ENST00000442122.5:c.*440+5398_*440+5399del (PECR) ENSP00000395512.1:n.*440+5398_*440+5399del
XR_001738847.2:n.1056-941_1056-940del (PECR)
NM_001372189.1:c.-68+169_-68+170del (MREG) NP_001359118.1:n.-68+169_-68+170del
NM_001372190.1:c.-178_-177del (MREG) NP_001359119.1:n.-178_-177del
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