Canonical Allele Identifier: CA475199336

Gene: IGHMBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933350G>A , CM000673.2:g.68933350G>A	GRCh38
NC_000011.9:g.68700818G>A , CM000673.1:g.68700818G>A	GRCh37
NC_000011.8:g.68457394G>A	NCBI36
NG_007976.1:g.34500G>A , LRG_250:g.34500G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002180.3:c.1287G>A MANE Select	NP_002171.2:p.Glu429=
ENST00000255078.8:c.1287G>A MANE Select	ENSP00000255078.4:p.Glu429=
NM_002180.2:c.1287G>A , LRG_250t1:c.1287G>A	NP_002171.2:p.Glu429=
ENST00000255078.7:c.1287G>A	ENSP00000255078.3:p.Glu429=
ENST00000536803.1:n.396G>A
ENST00000536803.2:n.198G>A
ENST00000537458.5:n.404G>A
ENST00000539064.5:n.1046G>A
ENST00000543739.5:n.404G>A
ENST00000568742.1:n.509G>A
ENST00000674955.1:c.*4G>A	ENSP00000502463.1:n.*4G>A
ENST00000675118.1:c.775G>A
ENST00000675205.1:n.52G>A
ENST00000675310.1:n.424G>A
ENST00000675615.1:c.1287G>A	ENSP00000502413.1:p.Glu429=
ENST00000675648.1:n.662G>A
ENST00000675997.1:n.113-1114G>A
ENST00000676149.1:n.361G>A
ENST00000676173.1:n.2032G>A
ENST00000676228.1:c.*610G>A	ENSP00000502375.1:n.*610G>A
XM_005273974.2:c.276G>A	XP_005274031.1:p.Glu92=
XM_005273975.2:c.159G>A	XP_005274032.1:p.Glu53=
XM_005273975.3:c.159G>A	XP_005274032.1:p.Glu53=
XM_011544994.1:c.54G>A	XP_011543296.1:p.Glu18=
XM_017017669.2:c.276G>A	XP_016873158.1:p.Glu92=
XM_017017670.2:c.276G>A	XP_016873159.1:p.Glu92=
XM_017017671.2:c.1287G>A	XP_016873160.1:p.Glu429=
XR_247198.1:n.2090G>A
XR_949903.1:n.1389G>A
XR_949903.3:n.1385G>A