Canonical Allele Identifier: CA679586717
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1298787017

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936400dup , CM000673.2:g.68936400dup GRCh38
NC_000011.9:g.68703868dup , CM000673.1:g.68703868dup GRCh37
NC_000011.8:g.68460444dup NCBI36
NG_007976.1:g.37550dup , LRG_250:g.37550dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1920dup MANE Select ENSP00000255078.4:p.Glu641Ter
ENST00000674675.1:c.164dup
ENST00000674878.1:c.164dup
ENST00000674955.1:c.*637dup ENSP00000502463.1:n.*637dup
ENST00000675118.1:c.1408dup
ENST00000675389.1:n.195dup
ENST00000675615.1:c.1920dup ENSP00000502413.1:p.Glu641Ter
ENST00000675648.1:n.1295dup
ENST00000675916.1:c.164dup
ENST00000676173.1:n.2665dup
ENST00000676182.1:c.351dup
ENST00000676228.1:c.*1243dup ENSP00000502375.1:n.*1243dup
ENST00000255078.7:c.1920dup ENSP00000255078.3:p.Glu641Ter
ENST00000539064.5:n.1679dup
ENST00000543739.5:n.913dup
ENST00000545475.1:n.516dup
NM_002180.2:c.1920dup , LRG_250t1:c.1920dup NP_002171.2:p.Glu641Ter
XM_005273974.2:c.909dup XP_005274031.1:p.Glu304Ter
XM_005273975.2:c.792dup XP_005274032.1:p.Glu265Ter
XM_011544994.1:c.687dup XP_011543296.1:p.Glu230Ter
XR_949903.1:n.2022dup
XM_005273975.3:c.792dup XP_005274032.1:p.Glu265Ter
XM_017017669.2:c.909dup XP_016873158.1:p.Glu304Ter
XM_017017670.2:c.909dup XP_016873159.1:p.Glu304Ter
XR_949903.3:n.2018dup
NM_002180.3:c.1920dup MANE Select NP_002171.2:p.Glu641Ter