Canonical Allele Identifier: CA2724579333

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs2154007484

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917805_68917815dup , CM000673.2:g.68917805_68917815dup	GRCh38
NC_000011.9:g.68685273_68685283dup , CM000673.1:g.68685273_68685283dup	GRCh37
NC_000011.8:g.68441849_68441859dup	NCBI36
NG_007976.1:g.18955_18965dup , LRG_250:g.18955_18965dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.982_992dup MANE Select	ENSP00000255078.4:p.Glu332LysfsTer3
ENST00000674745.1:c.70_80dup	ENSP00000502738.1:p.Glu28LysfsTer3
ENST00000674775.1:n.70_80dup
ENST00000674955.1:c.982_992dup	ENSP00000502463.1:p.Glu332LysfsTer3
ENST00000675118.1:c.470_480dup
ENST00000675119.1:c.409_419dup	ENSP00000501861.1:n.409_419dup
ENST00000675305.1:c.302_312dup	ENSP00000502365.1:n.302_312dup
ENST00000675464.1:c.265_275dup	ENSP00000502650.1:p.Glu93LysfsTer3
ENST00000675493.1:n.70_80dup
ENST00000675615.1:c.982_992dup	ENSP00000502413.1:p.Glu332LysfsTer3
ENST00000675648.1:n.357_367dup
ENST00000675683.1:c.369_379dup
ENST00000675684.1:c.70_80dup	ENSP00000502192.1:p.Glu28LysfsTer3
ENST00000676173.1:n.1026_1036dup
ENST00000676228.1:c.*305_*315dup	ENSP00000502375.1:n.*305_*315dup
ENST00000255078.7:c.982_992dup	ENSP00000255078.3:p.Glu332LysfsTer3
NM_002180.2:c.982_992dup , LRG_250t1:c.982_992dup	NP_002171.2:p.Glu332LysfsTer3
XM_005273974.2:c.-30_-20dup	XP_005274031.1:n.-30_-20dup
XM_005273976.1:c.982_992dup	XP_005274033.1:p.Glu332LysfsTer3
XR_247198.1:n.1084_1094dup
XR_949903.1:n.1084_1094dup
XM_005273976.2:c.982_992dup	XP_005274033.1:p.Glu332LysfsTer3
XM_017017669.2:c.-30_-20dup	XP_016873158.1:n.-30_-20dup
XM_017017670.2:c.-30_-20dup	XP_016873159.1:n.-30_-20dup
XM_017017671.2:c.982_992dup	XP_016873160.1:p.Glu332LysfsTer3
XR_949903.3:n.1080_1090dup
NM_002180.3:c.982_992dup MANE Select	NP_002171.2:p.Glu332LysfsTer3