Canonical Allele Identifier: CA381652917

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704101A>T (hg19) ; chr11:g.68936633A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936633A>T , CM000673.2:g.68936633A>T	GRCh38
NC_000011.9:g.68704101A>T , CM000673.1:g.68704101A>T	GRCh37
NC_000011.8:g.68460677A>T	NCBI36
NG_007976.1:g.37783A>T , LRG_250:g.37783A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2153A>T MANE Select	ENSP00000255078.4:p.Glu718Val
ENST00000674675.1:c.397A>T
ENST00000674878.1:c.397A>T
ENST00000674955.1:c.*870A>T	ENSP00000502463.1:n.*870A>T
ENST00000675118.1:c.1641A>T
ENST00000675389.1:n.428A>T
ENST00000675615.1:c.2153A>T	ENSP00000502413.1:p.Glu718Val
ENST00000675648.1:n.1528A>T
ENST00000675916.1:c.397A>T
ENST00000676173.1:n.2898A>T
ENST00000676182.1:c.584A>T
ENST00000676228.1:c.*1476A>T	ENSP00000502375.1:n.*1476A>T
ENST00000255078.7:c.2153A>T	ENSP00000255078.3:p.Glu718Val
ENST00000539064.5:n.1912A>T
ENST00000543739.5:n.1146A>T
NM_002180.2:c.2153A>T , LRG_250t1:c.2153A>T	NP_002171.2:p.Glu718Val
XM_005273974.2:c.1142A>T	XP_005274031.1:p.Glu381Val
XM_005273975.2:c.1025A>T	XP_005274032.1:p.Glu342Val
XM_011544994.1:c.920A>T	XP_011543296.1:p.Glu307Val
XR_949903.1:n.2255A>T
XM_005273975.3:c.1025A>T	XP_005274032.1:p.Glu342Val
XM_017017669.2:c.1142A>T	XP_016873158.1:p.Glu381Val
XM_017017670.2:c.1142A>T	XP_016873159.1:p.Glu381Val
XR_949903.3:n.2251A>T
NM_002180.3:c.2153A>T MANE Select	NP_002171.2:p.Glu718Val