Canonical Allele Identifier: CA381653709

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936941-G-A
• MyVariant Identifiers: chr11:g.68704409G>A (hg19) ; chr11:g.68936941G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936941G>A , CM000673.2:g.68936941G>A	GRCh38
NC_000011.9:g.68704409G>A , CM000673.1:g.68704409G>A	GRCh37
NC_000011.8:g.68460985G>A	NCBI36
NG_007976.1:g.38091G>A , LRG_250:g.38091G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2461G>A MANE Select	ENSP00000255078.4:p.Glu821Lys
ENST00000674675.1:c.606G>A
ENST00000674878.1:c.566G>A
ENST00000675118.1:c.1949G>A
ENST00000675389.1:n.736G>A
ENST00000675615.1:c.2461G>A	ENSP00000502413.1:p.Glu821Lys
ENST00000675648.1:n.1836G>A
ENST00000675916.1:c.705G>A
ENST00000676173.1:n.3206G>A
ENST00000676182.1:c.892G>A
ENST00000676228.1:c.*1784G>A	ENSP00000502375.1:n.*1784G>A
ENST00000255078.7:c.2461G>A	ENSP00000255078.3:p.Glu821Lys
ENST00000539064.5:n.2220G>A
ENST00000543739.5:n.1454G>A
NM_002180.2:c.2461G>A , LRG_250t1:c.2461G>A	NP_002171.2:p.Glu821Lys
XM_005273974.2:c.1450G>A	XP_005274031.1:p.Glu484Lys
XM_005273975.2:c.1333G>A	XP_005274032.1:p.Glu445Lys
XM_011544994.1:c.1228G>A	XP_011543296.1:p.Glu410Lys
XR_949903.1:n.2563G>A
XM_005273975.3:c.1333G>A	XP_005274032.1:p.Glu445Lys
XM_017017669.2:c.1450G>A	XP_016873158.1:p.Glu484Lys
XM_017017670.2:c.1450G>A	XP_016873159.1:p.Glu484Lys
XR_949903.3:n.2559G>A
NM_002180.3:c.2461G>A MANE Select	NP_002171.2:p.Glu821Lys