Canonical Allele Identifier: CA381653012
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936678T>C , CM000673.2:g.68936678T>C GRCh38
NC_000011.9:g.68704146T>C , CM000673.1:g.68704146T>C GRCh37
NC_000011.8:g.68460722T>C NCBI36
NG_007976.1:g.37828T>C , LRG_250:g.37828T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2198T>C MANE Select ENSP00000255078.4:p.Ile733Thr
ENST00000674675.1:c.442T>C
ENST00000674878.1:c.442T>C
ENST00000674955.1:c.*915T>C ENSP00000502463.1:n.*915T>C
ENST00000675118.1:c.1686T>C
ENST00000675389.1:n.473T>C
ENST00000675615.1:c.2198T>C ENSP00000502413.1:p.Ile733Thr
ENST00000675648.1:n.1573T>C
ENST00000675916.1:c.442T>C
ENST00000676173.1:n.2943T>C
ENST00000676182.1:c.629T>C
ENST00000676228.1:c.*1521T>C ENSP00000502375.1:n.*1521T>C
ENST00000255078.7:c.2198T>C ENSP00000255078.3:p.Ile733Thr
ENST00000539064.5:n.1957T>C
ENST00000543739.5:n.1191T>C
NM_002180.2:c.2198T>C , LRG_250t1:c.2198T>C NP_002171.2:p.Ile733Thr
XM_005273974.2:c.1187T>C XP_005274031.1:p.Ile396Thr
XM_005273975.2:c.1070T>C XP_005274032.1:p.Ile357Thr
XM_011544994.1:c.965T>C XP_011543296.1:p.Ile322Thr
XR_949903.1:n.2300T>C
XM_005273975.3:c.1070T>C XP_005274032.1:p.Ile357Thr
XM_017017669.2:c.1187T>C XP_016873158.1:p.Ile396Thr
XM_017017670.2:c.1187T>C XP_016873159.1:p.Ile396Thr
XR_949903.3:n.2296T>C
NM_002180.3:c.2198T>C MANE Select NP_002171.2:p.Ile733Thr