Canonical Allele Identifier: CA381651508

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703725G>A (hg19) ; chr11:g.68936257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936257G>A , CM000673.2:g.68936257G>A	GRCh38
NC_000011.9:g.68703725G>A , CM000673.1:g.68703725G>A	GRCh37
NC_000011.8:g.68460301G>A	NCBI36
NG_007976.1:g.37407G>A , LRG_250:g.37407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1777G>A MANE Select	ENSP00000255078.4:p.Glu593Lys
ENST00000674675.1:c.21G>A
ENST00000674878.1:c.21G>A
ENST00000674955.1:c.*494G>A	ENSP00000502463.1:n.*494G>A
ENST00000675118.1:c.1265G>A
ENST00000675389.1:n.52G>A
ENST00000675615.1:c.1777G>A	ENSP00000502413.1:p.Glu593Lys
ENST00000675648.1:n.1152G>A
ENST00000675916.1:c.21G>A
ENST00000676173.1:n.2522G>A
ENST00000676182.1:c.208G>A
ENST00000676228.1:c.*1100G>A	ENSP00000502375.1:n.*1100G>A
ENST00000255078.7:c.1777G>A	ENSP00000255078.3:p.Glu593Lys
ENST00000539064.5:n.1536G>A
ENST00000541229.5:n.472G>A
ENST00000543739.5:n.770G>A
ENST00000545475.1:n.373G>A
NM_002180.2:c.1777G>A , LRG_250t1:c.1777G>A	NP_002171.2:p.Glu593Lys
XM_005273974.2:c.766G>A	XP_005274031.1:p.Glu256Lys
XM_005273975.2:c.649G>A	XP_005274032.1:p.Glu217Lys
XM_011544994.1:c.544G>A	XP_011543296.1:p.Glu182Lys
XR_949903.1:n.1879G>A
XM_005273975.3:c.649G>A	XP_005274032.1:p.Glu217Lys
XM_017017669.2:c.766G>A	XP_016873158.1:p.Glu256Lys
XM_017017670.2:c.766G>A	XP_016873159.1:p.Glu256Lys
XR_949903.3:n.1875G>A
NM_002180.3:c.1777G>A MANE Select	NP_002171.2:p.Glu593Lys