Canonical Allele Identifier: CA381652935

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704110A>C (hg19) ; chr11:g.68936642A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936642A>C , CM000673.2:g.68936642A>C	GRCh38
NC_000011.9:g.68704110A>C , CM000673.1:g.68704110A>C	GRCh37
NC_000011.8:g.68460686A>C	NCBI36
NG_007976.1:g.37792A>C , LRG_250:g.37792A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2162A>C MANE Select	ENSP00000255078.4:p.Glu721Ala
ENST00000674675.1:c.406A>C
ENST00000674878.1:c.406A>C
ENST00000674955.1:c.*879A>C	ENSP00000502463.1:n.*879A>C
ENST00000675118.1:c.1650A>C
ENST00000675389.1:n.437A>C
ENST00000675615.1:c.2162A>C	ENSP00000502413.1:p.Glu721Ala
ENST00000675648.1:n.1537A>C
ENST00000675916.1:c.406A>C
ENST00000676173.1:n.2907A>C
ENST00000676182.1:c.593A>C
ENST00000676228.1:c.*1485A>C	ENSP00000502375.1:n.*1485A>C
ENST00000255078.7:c.2162A>C	ENSP00000255078.3:p.Glu721Ala
ENST00000539064.5:n.1921A>C
ENST00000543739.5:n.1155A>C
NM_002180.2:c.2162A>C , LRG_250t1:c.2162A>C	NP_002171.2:p.Glu721Ala
XM_005273974.2:c.1151A>C	XP_005274031.1:p.Glu384Ala
XM_005273975.2:c.1034A>C	XP_005274032.1:p.Glu345Ala
XM_011544994.1:c.929A>C	XP_011543296.1:p.Glu310Ala
XR_949903.1:n.2264A>C
XM_005273975.3:c.1034A>C	XP_005274032.1:p.Glu345Ala
XM_017017669.2:c.1151A>C	XP_016873158.1:p.Glu384Ala
XM_017017670.2:c.1151A>C	XP_016873159.1:p.Glu384Ala
XR_949903.3:n.2260A>C
NM_002180.3:c.2162A>C MANE Select	NP_002171.2:p.Glu721Ala