Canonical Allele Identifier: CA223413728
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 466591
ClinVar RCV Id: RCV000543729
dbSNP Id: rs950453484

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936926G>C , CM000673.2:g.68936926G>C GRCh38
NC_000011.9:g.68704394G>C , CM000673.1:g.68704394G>C GRCh37
NC_000011.8:g.68460970G>C NCBI36
NG_007976.1:g.38076G>C , LRG_250:g.38076G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2446G>C MANE Select ENSP00000255078.4:p.Glu816Gln
ENST00000674675.1:c.591G>C
ENST00000674878.1:c.551G>C
ENST00000675118.1:c.1934G>C
ENST00000675389.1:n.721G>C
ENST00000675615.1:c.2446G>C ENSP00000502413.1:p.Glu816Gln
ENST00000675648.1:n.1821G>C
ENST00000675916.1:c.690G>C
ENST00000676173.1:n.3191G>C
ENST00000676182.1:c.877G>C
ENST00000676228.1:c.*1769G>C ENSP00000502375.1:n.*1769G>C
ENST00000255078.7:c.2446G>C ENSP00000255078.3:p.Glu816Gln
ENST00000539064.5:n.2205G>C
ENST00000543739.5:n.1439G>C
NM_002180.2:c.2446G>C , LRG_250t1:c.2446G>C NP_002171.2:p.Glu816Gln
XM_005273974.2:c.1435G>C XP_005274031.1:p.Glu479Gln
XM_005273975.2:c.1318G>C XP_005274032.1:p.Glu440Gln
XM_011544994.1:c.1213G>C XP_011543296.1:p.Glu405Gln
XR_949903.1:n.2548G>C
XM_005273975.3:c.1318G>C XP_005274032.1:p.Glu440Gln
XM_017017669.2:c.1435G>C XP_016873158.1:p.Glu479Gln
XM_017017670.2:c.1435G>C XP_016873159.1:p.Glu479Gln
XR_949903.3:n.2544G>C
NM_002180.3:c.2446G>C MANE Select NP_002171.2:p.Glu816Gln