Canonical Allele Identifier: CA475204488

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936943-G-A
• MyVariant Identifiers: chr11:g.68704411G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936943G>A , CM000673.2:g.68936943G>A	GRCh38
NC_000011.9:g.68704411G>A , CM000673.1:g.68704411G>A	GRCh37
NC_000011.8:g.68460987G>A	NCBI36
NG_007976.1:g.38093G>A , LRG_250:g.38093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2463G>A MANE Select	ENSP00000255078.4:p.Glu821=
ENST00000674675.1:c.608G>A
ENST00000674878.1:c.568G>A
ENST00000675118.1:c.1951G>A
ENST00000675389.1:n.738G>A
ENST00000675615.1:c.2463G>A	ENSP00000502413.1:p.Glu821=
ENST00000675648.1:n.1838G>A
ENST00000675916.1:c.707G>A
ENST00000676173.1:n.3208G>A
ENST00000676182.1:c.894G>A
ENST00000676228.1:c.*1786G>A	ENSP00000502375.1:n.*1786G>A
ENST00000255078.7:c.2463G>A	ENSP00000255078.3:p.Glu821=
ENST00000539064.5:n.2222G>A
ENST00000543739.5:n.1456G>A
NM_002180.2:c.2463G>A , LRG_250t1:c.2463G>A	NP_002171.2:p.Glu821=
XM_005273974.2:c.1452G>A	XP_005274031.1:p.Glu484=
XM_005273975.2:c.1335G>A	XP_005274032.1:p.Glu445=
XM_011544994.1:c.1230G>A	XP_011543296.1:p.Glu410=
XR_949903.1:n.2565G>A
XM_005273975.3:c.1335G>A	XP_005274032.1:p.Glu445=
XM_017017669.2:c.1452G>A	XP_016873158.1:p.Glu484=
XM_017017670.2:c.1452G>A	XP_016873159.1:p.Glu484=
XR_949903.3:n.2561G>A
NM_002180.3:c.2463G>A MANE Select	NP_002171.2:p.Glu821=