Canonical Allele Identifier: CA2497321228

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1859536454
• gnomAD v4: 11-68936547-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936548_68936549del , CM000673.2:g.68936548_68936549del	GRCh38
NC_000011.9:g.68704016_68704017del , CM000673.1:g.68704016_68704017del	GRCh37
NC_000011.8:g.68460592_68460593del	NCBI36
NG_007976.1:g.37698_37699del , LRG_250:g.37698_37699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2068_2069del MANE Select	ENSP00000255078.4:p.Ala690GlnfsTer15
ENST00000674675.1:c.312_313del
ENST00000674878.1:c.312_313del
ENST00000674955.1:c.*785_*786del	ENSP00000502463.1:n.*785_*786del
ENST00000675118.1:c.1556_1557del
ENST00000675389.1:n.343_344del
ENST00000675615.1:c.2068_2069del	ENSP00000502413.1:p.Ala690GlnfsTer15
ENST00000675648.1:n.1443_1444del
ENST00000675916.1:c.312_313del
ENST00000676173.1:n.2813_2814del
ENST00000676182.1:c.499_500del
ENST00000676228.1:c.*1391_*1392del	ENSP00000502375.1:n.*1391_*1392del
ENST00000255078.7:c.2068_2069del	ENSP00000255078.3:p.Ala690GlnfsTer15
ENST00000539064.5:n.1827_1828del
ENST00000543739.5:n.1061_1062del
NM_002180.2:c.2068_2069del , LRG_250t1:c.2068_2069del	NP_002171.2:p.Ala690GlnfsTer15
XM_005273974.2:c.1057_1058del	XP_005274031.1:p.Ala353GlnfsTer15
XM_005273975.2:c.940_941del	XP_005274032.1:p.Ala314GlnfsTer15
XM_011544994.1:c.835_836del	XP_011543296.1:p.Ala279GlnfsTer15
XR_949903.1:n.2170_2171del
XM_005273975.3:c.940_941del	XP_005274032.1:p.Ala314GlnfsTer15
XM_017017669.2:c.1057_1058del	XP_016873158.1:p.Ala353GlnfsTer15
XM_017017670.2:c.1057_1058del	XP_016873159.1:p.Ala353GlnfsTer15
XR_949903.3:n.2166_2167del
NM_002180.3:c.2068_2069del MANE Select	NP_002171.2:p.Ala690GlnfsTer15