Canonical Allele Identifier: CA381653710
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936941G>C , CM000673.2:g.68936941G>C GRCh38
NC_000011.9:g.68704409G>C , CM000673.1:g.68704409G>C GRCh37
NC_000011.8:g.68460985G>C NCBI36
NG_007976.1:g.38091G>C , LRG_250:g.38091G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2461G>C MANE Select ENSP00000255078.4:p.Glu821Gln
ENST00000674675.1:c.606G>C
ENST00000674878.1:c.566G>C
ENST00000675118.1:c.1949G>C
ENST00000675389.1:n.736G>C
ENST00000675615.1:c.2461G>C ENSP00000502413.1:p.Glu821Gln
ENST00000675648.1:n.1836G>C
ENST00000675916.1:c.705G>C
ENST00000676173.1:n.3206G>C
ENST00000676182.1:c.892G>C
ENST00000676228.1:c.*1784G>C ENSP00000502375.1:n.*1784G>C
ENST00000255078.7:c.2461G>C ENSP00000255078.3:p.Glu821Gln
ENST00000539064.5:n.2220G>C
ENST00000543739.5:n.1454G>C
NM_002180.2:c.2461G>C , LRG_250t1:c.2461G>C NP_002171.2:p.Glu821Gln
XM_005273974.2:c.1450G>C XP_005274031.1:p.Glu484Gln
XM_005273975.2:c.1333G>C XP_005274032.1:p.Glu445Gln
XM_011544994.1:c.1228G>C XP_011543296.1:p.Glu410Gln
XR_949903.1:n.2563G>C
XM_005273975.3:c.1333G>C XP_005274032.1:p.Glu445Gln
XM_017017669.2:c.1450G>C XP_016873158.1:p.Glu484Gln
XM_017017670.2:c.1450G>C XP_016873159.1:p.Glu484Gln
XR_949903.3:n.2559G>C
NM_002180.3:c.2461G>C MANE Select NP_002171.2:p.Glu821Gln