Canonical Allele Identifier: CA2614748660

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936491-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936492dup , CM000673.2:g.68936492dup	GRCh38
NC_000011.9:g.68703960dup , CM000673.1:g.68703960dup	GRCh37
NC_000011.8:g.68460536dup	NCBI36
NG_007976.1:g.37642dup , LRG_250:g.37642dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2012dup MANE Select	ENSP00000255078.4:p.Ser672ValfsTer?
ENST00000674675.1:c.256dup
ENST00000674878.1:c.256dup
ENST00000674955.1:c.*729dup	ENSP00000502463.1:n.*729dup
ENST00000675118.1:c.1500dup
ENST00000675389.1:n.287dup
ENST00000675615.1:c.2012dup	ENSP00000502413.1:p.Ser672ValfsTer?
ENST00000675648.1:n.1387dup
ENST00000675916.1:c.256dup
ENST00000676173.1:n.2757dup
ENST00000676182.1:c.443dup
ENST00000676228.1:c.*1335dup	ENSP00000502375.1:n.*1335dup
ENST00000255078.7:c.2012dup	ENSP00000255078.3:p.Ser672ValfsTer?
ENST00000539064.5:n.1771dup
ENST00000543739.5:n.1005dup
NM_002180.2:c.2012dup , LRG_250t1:c.2012dup	NP_002171.2:p.Ser672ValfsTer?
XM_005273974.2:c.1001dup	XP_005274031.1:p.Ser335ValfsTer?
XM_005273975.2:c.884dup	XP_005274032.1:p.Ser296ValfsTer?
XM_011544994.1:c.779dup	XP_011543296.1:p.Ser261ValfsTer?
XR_949903.1:n.2114dup
XM_005273975.3:c.884dup	XP_005274032.1:p.Ser296ValfsTer?
XM_017017669.2:c.1001dup	XP_016873158.1:p.Ser335ValfsTer?
XM_017017670.2:c.1001dup	XP_016873159.1:p.Ser335ValfsTer?
XR_949903.3:n.2110dup
NM_002180.3:c.2012dup MANE Select	NP_002171.2:p.Ser672ValfsTer?