Canonical Allele Identifier: CA381652876

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704082C>A (hg19) ; chr11:g.68936614C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936614C>A , CM000673.2:g.68936614C>A	GRCh38
NC_000011.9:g.68704082C>A , CM000673.1:g.68704082C>A	GRCh37
NC_000011.8:g.68460658C>A	NCBI36
NG_007976.1:g.37764C>A , LRG_250:g.37764C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2134C>A MANE Select	ENSP00000255078.4:p.Leu712Ile
ENST00000674675.1:c.378C>A
ENST00000674878.1:c.378C>A
ENST00000674955.1:c.*851C>A	ENSP00000502463.1:n.*851C>A
ENST00000675118.1:c.1622C>A
ENST00000675389.1:n.409C>A
ENST00000675615.1:c.2134C>A	ENSP00000502413.1:p.Leu712Ile
ENST00000675648.1:n.1509C>A
ENST00000675916.1:c.378C>A
ENST00000676173.1:n.2879C>A
ENST00000676182.1:c.565C>A
ENST00000676228.1:c.*1457C>A	ENSP00000502375.1:n.*1457C>A
ENST00000255078.7:c.2134C>A	ENSP00000255078.3:p.Leu712Ile
ENST00000539064.5:n.1893C>A
ENST00000543739.5:n.1127C>A
NM_002180.2:c.2134C>A , LRG_250t1:c.2134C>A	NP_002171.2:p.Leu712Ile
XM_005273974.2:c.1123C>A	XP_005274031.1:p.Leu375Ile
XM_005273975.2:c.1006C>A	XP_005274032.1:p.Leu336Ile
XM_011544994.1:c.901C>A	XP_011543296.1:p.Leu301Ile
XR_949903.1:n.2236C>A
XM_005273975.3:c.1006C>A	XP_005274032.1:p.Leu336Ile
XM_017017669.2:c.1123C>A	XP_016873158.1:p.Leu375Ile
XM_017017670.2:c.1123C>A	XP_016873159.1:p.Leu375Ile
XR_949903.3:n.2232C>A
NM_002180.3:c.2134C>A MANE Select	NP_002171.2:p.Leu712Ile