Canonical Allele Identifier: CA381644783

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68685234G>C (hg19) ; chr11:g.68917766G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917766G>C , CM000673.2:g.68917766G>C	GRCh38
NC_000011.9:g.68685234G>C , CM000673.1:g.68685234G>C	GRCh37
NC_000011.8:g.68441810G>C	NCBI36
NG_007976.1:g.18916G>C , LRG_250:g.18916G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.943G>C MANE Select	ENSP00000255078.4:p.Glu315Gln
ENST00000674745.1:c.31G>C	ENSP00000502738.1:p.Glu11Gln
ENST00000674775.1:n.31G>C
ENST00000674955.1:c.943G>C	ENSP00000502463.1:p.Glu315Gln
ENST00000675118.1:c.431G>C
ENST00000675119.1:c.370G>C	ENSP00000501861.1:n.370G>C
ENST00000675305.1:c.263G>C	ENSP00000502365.1:n.263G>C
ENST00000675464.1:c.226G>C	ENSP00000502650.1:p.Glu76Gln
ENST00000675493.1:n.31G>C
ENST00000675615.1:c.943G>C	ENSP00000502413.1:p.Glu315Gln
ENST00000675648.1:n.318G>C
ENST00000675683.1:c.330G>C
ENST00000675684.1:c.31G>C	ENSP00000502192.1:p.Glu11Gln
ENST00000676173.1:n.987G>C
ENST00000676228.1:c.*266G>C	ENSP00000502375.1:n.*266G>C
ENST00000255078.7:c.943G>C	ENSP00000255078.3:p.Glu315Gln
NM_002180.2:c.943G>C , LRG_250t1:c.943G>C	NP_002171.2:p.Glu315Gln
XM_005273974.2:c.-69G>C	XP_005274031.1:n.-69G>C
XM_005273976.1:c.943G>C	XP_005274033.1:p.Glu315Gln
XR_247198.1:n.1045G>C
XR_949903.1:n.1045G>C
XM_005273976.2:c.943G>C	XP_005274033.1:p.Glu315Gln
XM_017017669.2:c.-69G>C	XP_016873158.1:n.-69G>C
XM_017017670.2:c.-69G>C	XP_016873159.1:n.-69G>C
XM_017017671.2:c.943G>C	XP_016873160.1:p.Glu315Gln
XR_949903.3:n.1041G>C
NM_002180.3:c.943G>C MANE Select	NP_002171.2:p.Glu315Gln