Canonical Allele Identifier: CA381653024
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936684A>T , CM000673.2:g.68936684A>T GRCh38
NC_000011.9:g.68704152A>T , CM000673.1:g.68704152A>T GRCh37
NC_000011.8:g.68460728A>T NCBI36
NG_007976.1:g.37834A>T , LRG_250:g.37834A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2204A>T MANE Select ENSP00000255078.4:p.Glu735Val
ENST00000674675.1:c.448A>T
ENST00000674878.1:c.448A>T
ENST00000674955.1:c.*921A>T ENSP00000502463.1:n.*921A>T
ENST00000675118.1:c.1692A>T
ENST00000675389.1:n.479A>T
ENST00000675615.1:c.2204A>T ENSP00000502413.1:p.Glu735Val
ENST00000675648.1:n.1579A>T
ENST00000675916.1:c.448A>T
ENST00000676173.1:n.2949A>T
ENST00000676182.1:c.635A>T
ENST00000676228.1:c.*1527A>T ENSP00000502375.1:n.*1527A>T
ENST00000255078.7:c.2204A>T ENSP00000255078.3:p.Glu735Val
ENST00000539064.5:n.1963A>T
ENST00000543739.5:n.1197A>T
NM_002180.2:c.2204A>T , LRG_250t1:c.2204A>T NP_002171.2:p.Glu735Val
XM_005273974.2:c.1193A>T XP_005274031.1:p.Glu398Val
XM_005273975.2:c.1076A>T XP_005274032.1:p.Glu359Val
XM_011544994.1:c.971A>T XP_011543296.1:p.Glu324Val
XR_949903.1:n.2306A>T
XM_005273975.3:c.1076A>T XP_005274032.1:p.Glu359Val
XM_017017669.2:c.1193A>T XP_016873158.1:p.Glu398Val
XM_017017670.2:c.1193A>T XP_016873159.1:p.Glu398Val
XR_949903.3:n.2302A>T
NM_002180.3:c.2204A>T MANE Select NP_002171.2:p.Glu735Val