Canonical Allele Identifier: CA381653955
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68937032A>C , CM000673.2:g.68937032A>C GRCh38
NC_000011.9:g.68704500A>C , CM000673.1:g.68704500A>C GRCh37
NC_000011.8:g.68461076A>C NCBI36
NG_007976.1:g.38182A>C , LRG_250:g.38182A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2552A>C MANE Select ENSP00000255078.4:p.Lys851Thr
ENST00000674675.1:c.697A>C
ENST00000674878.1:c.657A>C
ENST00000675118.1:c.2040A>C
ENST00000675389.1:n.827A>C
ENST00000675615.1:c.2552A>C ENSP00000502413.1:p.Lys851Thr
ENST00000675648.1:n.1927A>C
ENST00000675916.1:c.796A>C
ENST00000676173.1:n.3297A>C
ENST00000676182.1:c.983A>C
ENST00000676228.1:c.*1875A>C ENSP00000502375.1:n.*1875A>C
ENST00000255078.7:c.2552A>C ENSP00000255078.3:p.Lys851Thr
ENST00000539064.5:n.2311A>C
ENST00000543739.5:n.1545A>C
NM_002180.2:c.2552A>C , LRG_250t1:c.2552A>C NP_002171.2:p.Lys851Thr
XM_005273974.2:c.1541A>C XP_005274031.1:p.Lys514Thr
XM_005273975.2:c.1424A>C XP_005274032.1:p.Lys475Thr
XM_011544994.1:c.1319A>C XP_011543296.1:p.Lys440Thr
XR_949903.1:n.2654A>C
XM_005273975.3:c.1424A>C XP_005274032.1:p.Lys475Thr
XM_017017669.2:c.1541A>C XP_016873158.1:p.Lys514Thr
XM_017017670.2:c.1541A>C XP_016873159.1:p.Lys514Thr
XR_949903.3:n.2650A>C
NM_002180.3:c.2552A>C MANE Select NP_002171.2:p.Lys851Thr