Canonical Allele Identifier: CA381653444

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704325C>A (hg19) ; chr11:g.68936857C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936857C>A , CM000673.2:g.68936857C>A	GRCh38
NC_000011.9:g.68704325C>A , CM000673.1:g.68704325C>A	GRCh37
NC_000011.8:g.68460901C>A	NCBI36
NG_007976.1:g.38007C>A , LRG_250:g.38007C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2377C>A MANE Select	ENSP00000255078.4:p.Leu793Met
ENST00000674675.1:c.587+34C>A
ENST00000674878.1:c.548-66C>A
ENST00000674955.1:c.*1094C>A	ENSP00000502463.1:n.*1094C>A
ENST00000675118.1:c.1865C>A
ENST00000675389.1:n.652C>A
ENST00000675615.1:c.2377C>A	ENSP00000502413.1:p.Leu793Met
ENST00000675648.1:n.1752C>A
ENST00000675916.1:c.621C>A
ENST00000676173.1:n.3122C>A
ENST00000676182.1:c.808C>A
ENST00000676228.1:c.*1700C>A	ENSP00000502375.1:n.*1700C>A
ENST00000255078.7:c.2377C>A	ENSP00000255078.3:p.Leu793Met
ENST00000539064.5:n.2136C>A
ENST00000543739.5:n.1370C>A
NM_002180.2:c.2377C>A , LRG_250t1:c.2377C>A	NP_002171.2:p.Leu793Met
XM_005273974.2:c.1366C>A	XP_005274031.1:p.Leu456Met
XM_005273975.2:c.1249C>A	XP_005274032.1:p.Leu417Met
XM_011544994.1:c.1144C>A	XP_011543296.1:p.Leu382Met
XR_949903.1:n.2479C>A
XM_005273975.3:c.1249C>A	XP_005274032.1:p.Leu417Met
XM_017017669.2:c.1366C>A	XP_016873158.1:p.Leu456Met
XM_017017670.2:c.1366C>A	XP_016873159.1:p.Leu456Met
XR_949903.3:n.2475C>A
NM_002180.3:c.2377C>A MANE Select	NP_002171.2:p.Leu793Met