Canonical Allele Identifier: CA381653350

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704293T>A (hg19) ; chr11:g.68936825T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936825T>A , CM000673.2:g.68936825T>A	GRCh38
NC_000011.9:g.68704293T>A , CM000673.1:g.68704293T>A	GRCh37
NC_000011.8:g.68460869T>A	NCBI36
NG_007976.1:g.37975T>A , LRG_250:g.37975T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2345T>A MANE Select	ENSP00000255078.4:p.Val782Glu
ENST00000674675.1:c.587+2T>A
ENST00000674878.1:c.547+42T>A
ENST00000674955.1:c.*1062T>A	ENSP00000502463.1:n.*1062T>A
ENST00000675118.1:c.1833T>A
ENST00000675389.1:n.620T>A
ENST00000675615.1:c.2345T>A	ENSP00000502413.1:p.Val782Glu
ENST00000675648.1:n.1720T>A
ENST00000675916.1:c.589T>A
ENST00000676173.1:n.3090T>A
ENST00000676182.1:c.776T>A
ENST00000676228.1:c.*1668T>A	ENSP00000502375.1:n.*1668T>A
ENST00000255078.7:c.2345T>A	ENSP00000255078.3:p.Val782Glu
ENST00000539064.5:n.2104T>A
ENST00000543739.5:n.1338T>A
NM_002180.2:c.2345T>A , LRG_250t1:c.2345T>A	NP_002171.2:p.Val782Glu
XM_005273974.2:c.1334T>A	XP_005274031.1:p.Val445Glu
XM_005273975.2:c.1217T>A	XP_005274032.1:p.Val406Glu
XM_011544994.1:c.1112T>A	XP_011543296.1:p.Val371Glu
XR_949903.1:n.2447T>A
XM_005273975.3:c.1217T>A	XP_005274032.1:p.Val406Glu
XM_017017669.2:c.1334T>A	XP_016873158.1:p.Val445Glu
XM_017017670.2:c.1334T>A	XP_016873159.1:p.Val445Glu
XR_949903.3:n.2443T>A
NM_002180.3:c.2345T>A MANE Select	NP_002171.2:p.Val782Glu