Canonical Allele Identifier: CA381653021
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936683G>A , CM000673.2:g.68936683G>A GRCh38
NC_000011.9:g.68704151G>A , CM000673.1:g.68704151G>A GRCh37
NC_000011.8:g.68460727G>A NCBI36
NG_007976.1:g.37833G>A , LRG_250:g.37833G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2203G>A MANE Select ENSP00000255078.4:p.Glu735Lys
ENST00000674675.1:c.447G>A
ENST00000674878.1:c.447G>A
ENST00000674955.1:c.*920G>A ENSP00000502463.1:n.*920G>A
ENST00000675118.1:c.1691G>A
ENST00000675389.1:n.478G>A
ENST00000675615.1:c.2203G>A ENSP00000502413.1:p.Glu735Lys
ENST00000675648.1:n.1578G>A
ENST00000675916.1:c.447G>A
ENST00000676173.1:n.2948G>A
ENST00000676182.1:c.634G>A
ENST00000676228.1:c.*1526G>A ENSP00000502375.1:n.*1526G>A
ENST00000255078.7:c.2203G>A ENSP00000255078.3:p.Glu735Lys
ENST00000539064.5:n.1962G>A
ENST00000543739.5:n.1196G>A
NM_002180.2:c.2203G>A , LRG_250t1:c.2203G>A NP_002171.2:p.Glu735Lys
XM_005273974.2:c.1192G>A XP_005274031.1:p.Glu398Lys
XM_005273975.2:c.1075G>A XP_005274032.1:p.Glu359Lys
XM_011544994.1:c.970G>A XP_011543296.1:p.Glu324Lys
XR_949903.1:n.2305G>A
XM_005273975.3:c.1075G>A XP_005274032.1:p.Glu359Lys
XM_017017669.2:c.1192G>A XP_016873158.1:p.Glu398Lys
XM_017017670.2:c.1192G>A XP_016873159.1:p.Glu398Lys
XR_949903.3:n.2301G>A
NM_002180.3:c.2203G>A MANE Select NP_002171.2:p.Glu735Lys