Canonical Allele Identifier: CA381651614

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936297G>A , CM000673.2:g.68936297G>A	GRCh38
NC_000011.9:g.68703765G>A , CM000673.1:g.68703765G>A	GRCh37
NC_000011.8:g.68460341G>A	NCBI36
NG_007976.1:g.37447G>A , LRG_250:g.37447G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1817G>A MANE Select	NP_002171.2:p.Arg606His
ENST00000255078.8:c.1817G>A MANE Select	ENSP00000255078.4:p.Arg606His
NM_002180.2:c.1817G>A , LRG_250t1:c.1817G>A	NP_002171.2:p.Arg606His
ENST00000255078.7:c.1817G>A	ENSP00000255078.3:p.Arg606His
ENST00000539064.5:n.1576G>A
ENST00000541229.5:n.512G>A
ENST00000543739.5:n.810G>A
ENST00000545475.1:n.413G>A
ENST00000674675.1:c.61G>A
ENST00000674878.1:c.61G>A
ENST00000674955.1:c.*534G>A	ENSP00000502463.1:n.*534G>A
ENST00000675118.1:c.1305G>A
ENST00000675389.1:n.92G>A
ENST00000675615.1:c.1817G>A	ENSP00000502413.1:p.Arg606His
ENST00000675648.1:n.1192G>A
ENST00000675916.1:c.61G>A
ENST00000676173.1:n.2562G>A
ENST00000676182.1:c.248G>A
ENST00000676228.1:c.*1140G>A	ENSP00000502375.1:n.*1140G>A
XM_005273974.2:c.806G>A	XP_005274031.1:p.Arg269His
XM_005273975.2:c.689G>A	XP_005274032.1:p.Arg230His
XM_005273975.3:c.689G>A	XP_005274032.1:p.Arg230His
XM_011544994.1:c.584G>A	XP_011543296.1:p.Arg195His
XM_017017669.2:c.806G>A	XP_016873158.1:p.Arg269His
XM_017017670.2:c.806G>A	XP_016873159.1:p.Arg269His
XR_949903.1:n.1919G>A
XR_949903.3:n.1915G>A