Canonical Allele Identifier: CA381652713

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704002A>C (hg19) ; chr11:g.68936534A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936534A>C , CM000673.2:g.68936534A>C	GRCh38
NC_000011.9:g.68704002A>C , CM000673.1:g.68704002A>C	GRCh37
NC_000011.8:g.68460578A>C	NCBI36
NG_007976.1:g.37684A>C , LRG_250:g.37684A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2054A>C MANE Select	ENSP00000255078.4:p.Glu685Ala
ENST00000674675.1:c.298A>C
ENST00000674878.1:c.298A>C
ENST00000674955.1:c.*771A>C	ENSP00000502463.1:n.*771A>C
ENST00000675118.1:c.1542A>C
ENST00000675389.1:n.329A>C
ENST00000675615.1:c.2054A>C	ENSP00000502413.1:p.Glu685Ala
ENST00000675648.1:n.1429A>C
ENST00000675916.1:c.298A>C
ENST00000676173.1:n.2799A>C
ENST00000676182.1:c.485A>C
ENST00000676228.1:c.*1377A>C	ENSP00000502375.1:n.*1377A>C
ENST00000255078.7:c.2054A>C	ENSP00000255078.3:p.Glu685Ala
ENST00000539064.5:n.1813A>C
ENST00000543739.5:n.1047A>C
NM_002180.2:c.2054A>C , LRG_250t1:c.2054A>C	NP_002171.2:p.Glu685Ala
XM_005273974.2:c.1043A>C	XP_005274031.1:p.Glu348Ala
XM_005273975.2:c.926A>C	XP_005274032.1:p.Glu309Ala
XM_011544994.1:c.821A>C	XP_011543296.1:p.Glu274Ala
XR_949903.1:n.2156A>C
XM_005273975.3:c.926A>C	XP_005274032.1:p.Glu309Ala
XM_017017669.2:c.1043A>C	XP_016873158.1:p.Glu348Ala
XM_017017670.2:c.1043A>C	XP_016873159.1:p.Glu348Ala
XR_949903.3:n.2152A>C
NM_002180.3:c.2054A>C MANE Select	NP_002171.2:p.Glu685Ala