Canonical Allele Identifier: CA2614749243

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936849-G-GAGCAGCCCTGGGACCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936855_68936872dup , CM000673.2:g.68936855_68936872dup	GRCh38
NC_000011.9:g.68704323_68704340dup , CM000673.1:g.68704323_68704340dup	GRCh37
NC_000011.8:g.68460899_68460916dup	NCBI36
NG_007976.1:g.38005_38022dup , LRG_250:g.38005_38022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2375_2392dup MANE Select	ENSP00000255078.4:p.Ala797_Gly798insAlaLeuGlyProProAla
ENST00000674675.1:c.587+32_587+49dup
ENST00000674878.1:c.548-68_548-51dup
ENST00000675118.1:c.1863_1880dup
ENST00000675389.1:n.650_667dup
ENST00000675615.1:c.2375_2392dup	ENSP00000502413.1:p.Ala797_Gly798insAlaLeuGlyProProAla
ENST00000675648.1:n.1750_1767dup
ENST00000675916.1:c.619_636dup
ENST00000676173.1:n.3120_3137dup
ENST00000676182.1:c.806_823dup
ENST00000676228.1:c.*1698_*1715dup	ENSP00000502375.1:n.*1698_*1715dup
ENST00000255078.7:c.2375_2392dup	ENSP00000255078.3:p.Ala797_Gly798insAlaLeuGlyProProAla
ENST00000539064.5:n.2134_2151dup
ENST00000543739.5:n.1368_1385dup
NM_002180.2:c.2375_2392dup , LRG_250t1:c.2375_2392dup	NP_002171.2:p.Ala797_Gly798insAlaLeuGlyProProAla
XM_005273974.2:c.1364_1381dup	XP_005274031.1:p.Ala460_Gly461insAlaLeuGlyProProAla
XM_005273975.2:c.1247_1264dup	XP_005274032.1:p.Ala421_Gly422insAlaLeuGlyProProAla
XM_011544994.1:c.1142_1159dup	XP_011543296.1:p.Ala386_Gly387insAlaLeuGlyProProAla
XR_949903.1:n.2477_2494dup
XM_005273975.3:c.1247_1264dup	XP_005274032.1:p.Ala421_Gly422insAlaLeuGlyProProAla
XM_017017669.2:c.1364_1381dup	XP_016873158.1:p.Ala460_Gly461insAlaLeuGlyProProAla
XM_017017670.2:c.1364_1381dup	XP_016873159.1:p.Ala460_Gly461insAlaLeuGlyProProAla
XR_949903.3:n.2473_2490dup
NM_002180.3:c.2375_2392dup MANE Select	NP_002171.2:p.Ala797_Gly798insAlaLeuGlyProProAla