Canonical Allele Identifier: CA475204244

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703727G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936259G>A , CM000673.2:g.68936259G>A	GRCh38
NC_000011.9:g.68703727G>A , CM000673.1:g.68703727G>A	GRCh37
NC_000011.8:g.68460303G>A	NCBI36
NG_007976.1:g.37409G>A , LRG_250:g.37409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1779G>A MANE Select	ENSP00000255078.4:p.Glu593=
ENST00000674675.1:c.23G>A
ENST00000674878.1:c.23G>A
ENST00000674955.1:c.*496G>A	ENSP00000502463.1:n.*496G>A
ENST00000675118.1:c.1267G>A
ENST00000675389.1:n.54G>A
ENST00000675615.1:c.1779G>A	ENSP00000502413.1:p.Glu593=
ENST00000675648.1:n.1154G>A
ENST00000675916.1:c.23G>A
ENST00000676173.1:n.2524G>A
ENST00000676182.1:c.210G>A
ENST00000676228.1:c.*1102G>A	ENSP00000502375.1:n.*1102G>A
ENST00000255078.7:c.1779G>A	ENSP00000255078.3:p.Glu593=
ENST00000539064.5:n.1538G>A
ENST00000541229.5:n.474G>A
ENST00000543739.5:n.772G>A
ENST00000545475.1:n.375G>A
NM_002180.2:c.1779G>A , LRG_250t1:c.1779G>A	NP_002171.2:p.Glu593=
XM_005273974.2:c.768G>A	XP_005274031.1:p.Glu256=
XM_005273975.2:c.651G>A	XP_005274032.1:p.Glu217=
XM_011544994.1:c.546G>A	XP_011543296.1:p.Glu182=
XR_949903.1:n.1881G>A
XM_005273975.3:c.651G>A	XP_005274032.1:p.Glu217=
XM_017017669.2:c.768G>A	XP_016873158.1:p.Glu256=
XM_017017670.2:c.768G>A	XP_016873159.1:p.Glu256=
XR_949903.3:n.1877G>A
NM_002180.3:c.1779G>A MANE Select	NP_002171.2:p.Glu593=